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For: Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2017;19:249-55. [PMID: 27854360 DOI: 10.1038/gim.2016.190] [Cited by in Crossref: 910] [Cited by in F6Publishing: 761] [Article Influence: 151.7] [Reference Citation Analysis]
Number Citing Articles
1 Rodríguez-Salgado LE, Silva-Aldana CT, Medina-Méndez E, Bareño-Silva J, Arcos-Burgos M, Silgado-Guzmán DF, Restrepo CM. Frequency of actionable Exomic secondary findings in 160 Colombian patients: Impact in the healthcare system. Gene 2022;838:146699. [PMID: 35803546 DOI: 10.1016/j.gene.2022.146699] [Reference Citation Analysis]
2 Rajagopal VM, Duan J, Vilar-Ribó L, Grove J, Zayats T, Ramos-Quiroga JA, Satterstrom FK, Artigas MS, Bybjerg-Grauholm J, Bækvad-Hansen M, Als TD, Rosengren A, Daly MJ, Neale BM, Nordentoft M, Werge T, Mors O, Hougaard DM, Mortensen PB, Ribasés M, Børglum AD, Demontis D. Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention-deficit hyperactivity disorder. Nat Genet 2022;54:1117-24. [PMID: 35927488 DOI: 10.1038/s41588-022-01143-7] [Reference Citation Analysis]
3 Kingdom R, Wright CF. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts. Front Genet 2022;13:920390. [DOI: 10.3389/fgene.2022.920390] [Reference Citation Analysis]
4 Yamamoto Y, Fukuyama K, Kanai M, Kondo T, Yoshioka M, Kou T, Quy PN, Kimura-tsuchiya R, Yamada T, Matsumoto S, Kosugi S, Muto M. Prevalence of pathogenic germline variants in the circulating tumor DNA testing. Int J Clin Oncol. [DOI: 10.1007/s10147-022-02220-x] [Reference Citation Analysis]
5 Watson MS, Lloyd-puryear MA, Howell RR. The Progress and Future of US Newborn Screening. IJNS 2022;8:41. [DOI: 10.3390/ijns8030041] [Reference Citation Analysis]
6 Farncombe KM, Thain E, Barnett-Tapia C, Sadeghian H, Kim RH. LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis. BMC Med Genomics 2022;15:160. [PMID: 35840934 DOI: 10.1186/s12920-022-01304-x] [Reference Citation Analysis]
7 McDermott H, Sherlaw-Sturrock C, Baptista J, Hartles-Spencer L, Naik S. Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation. Eur J Med Genet 2022;65:104571. [PMID: 35842091 DOI: 10.1016/j.ejmg.2022.104571] [Reference Citation Analysis]
8 Bombard Y, Ginsburg GS, Sturm AC, Zhou AY, Lemke AA. Digital health-enabled genomics: Opportunities and challenges. Am J Hum Genet 2022;109:1190-8. [PMID: 35803232 DOI: 10.1016/j.ajhg.2022.05.001] [Reference Citation Analysis]
9 Li MM, Tayoun AA, Distefano M, Pandya A, Rehm HL, Robin NH, Schaefer AM, Yoshinaga-itano C. Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2022;24:1392-406. [DOI: 10.1016/j.gim.2022.03.018] [Reference Citation Analysis]
10 Miller DT, Lee K, Abul-husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2022;24:1407-14. [DOI: 10.1016/j.gim.2022.04.006] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
11 López-rivera JJ, Rodríguez-salazar L, Soto-ospina A, Estrada-serrato C, Serrano D, Chaparro-solano HM, Londoño O, Rueda PA, Ardila G, Villegas-lanau A, Godoy-corredor M, Cuartas M, Vélez JI, Vidal OM, Isaza-ruget MA, Arcos-burgos M. Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics–Molecular Mechanics Framework. Brain Sciences 2022;12:871. [DOI: 10.3390/brainsci12070871] [Reference Citation Analysis]
12 Ganapathi M, Thomas-Wilson A, Buchovecky C, Dharmadhikari A, Barua S, Lee W, Ruan MZC, Soucy M, Ragi S, Tanaka J, Clark LN, Naini AB, Liao J, Mansukhani M, Tsang S, Jobanputra V. Clinical exome sequencing for inherited retinal degenerations at a tertiary care center. Sci Rep 2022;12:9358. [PMID: 35672425 DOI: 10.1038/s41598-022-13026-2] [Reference Citation Analysis]
13 Savatt JM, Ortiz NM, Thone GM, McDonald WS, Kelly MA, Berry ASF, Alvi MM, Hallquist MLG, Malinowski J, Purdy NC, Williams MS, Sturm AC, Buchanan AH. Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort. BMC Med 2022;20:205. [PMID: 35668420 DOI: 10.1186/s12916-022-02375-4] [Reference Citation Analysis]
14 Foss-Skiftesvik J, Stoltze UK. Genetic predisposition to central nervous system tumors in children - what the neurosurgeon should know. Acta Neurochir (Wien) 2022. [PMID: 35660974 DOI: 10.1007/s00701-022-05258-y] [Reference Citation Analysis]
15 Verma KP, Marwick TH, Duarte C, Meikle P, Inouye M, Carrington MJ. Use of coronary computed tomography or polygenic risk scores to prompt action to reduce coronary artery disease risk: the CAPAR-CAD trial. Am Heart J 2022;248:97-107. [PMID: 35218726 DOI: 10.1016/j.ahj.2022.02.007] [Reference Citation Analysis]
16 Rego S, Hoban H, Outram S, Zamora AN, Chen F, Sahin-Hodoglugil N, Anguiano B, Norstad M, Yip T, Lianoglou B, Sparks TN, Norton ME, Koenig BA, Slavotinek AM, Ackerman SL. Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach. Genet Med 2022;24:1206-16. [PMID: 35396980 DOI: 10.1016/j.gim.2022.02.004] [Reference Citation Analysis]
17 Amendola LM, Shuster E, Leo MC, Dorschner MO, Rolf BA, Shirts BH, Gilmore MJ, Okuyama S, Zepp JM, Kauffman TL, Mittendorf KF, Bellcross C, Jenkins CL, Joseph G, Riddle L, Syngal S, Ukaegbu C, Goddard KAB, Wilfond BS, Jarvik GP; CHARM Study. Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access. Genet Med 2022;24:1196-205. [PMID: 35305866 DOI: 10.1016/j.gim.2022.02.006] [Reference Citation Analysis]
18 Hunter JE, Jenkins CL, Bulkley JE, Gilmore MJ, Lee K, Pak CM, Wallace KE, Buchanan AH, Foreman AKM, Freed AS, Goehringer S, Manickam K, Meeks NJL, Ramos EM, Shah N, Steiner RD, Subramanian SL, Trotter T, Webber EM, Williams MS, Goddard KAB, Powell BC; ClinGen. ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. Genet Med 2022;24:1328-35. [PMID: 35341655 DOI: 10.1016/j.gim.2022.02.019] [Reference Citation Analysis]
19 Schmidlen T, Jones CL, Campbell-Salome G, McCormick CZ, Vanenkevort E, Sturm AC. Use of a chatbot to increase uptake of cascade genetic testing. J Genet Couns 2022. [PMID: 35616645 DOI: 10.1002/jgc4.1592] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
20 Jones LK, Strande NT, Calvo EM, Chen J, Rodriguez G, Mccormick CZ, Hallquist MLG, Savatt JM, Rocha H, Williams MS, Sturm AC, Buchanan AH, Glasgow RE, Martin CL, Rahm AK. A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System. Front Genet 2022;13:883073. [DOI: 10.3389/fgene.2022.883073] [Reference Citation Analysis]
21 Saugstad AA, Petry N, Hajek C. Pharmacogenetic Review: Germline Genetic Variants Possessing Increased Cancer Risk With Clinically Actionable Therapeutic Relationships. Front Genet 2022;13:857120. [DOI: 10.3389/fgene.2022.857120] [Reference Citation Analysis]
22 Feng YA, Stanaway IB, Connolly JJ, Denny JC, Luo Y, Weng C, Wei WQ, Weiss ST, Karlson EW, Smoller JW. Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC Genomics 2022;23:385. [PMID: 35590255 DOI: 10.1186/s12864-022-08600-x] [Reference Citation Analysis]
23 Fischer J, Rohena L, Mittal B. Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. Case Reports in Genetics 2022;2022:1-5. [DOI: 10.1155/2022/7510079] [Reference Citation Analysis]
24 Yang Y, Zhao S, Sun G, Chen F, Zhang T, Song J, Yang W, Wang L, Zhan N, Yang X, Zhu X, Rao B, Yin Z, Zhou J, Yan H, Huang Y, Ye J, Huang H, Cheng C, Zhu S, Guo J, Xu X, Chen X. Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing. NPJ Genom Med 2022;7:31. [PMID: 35562572 DOI: 10.1038/s41525-022-00301-4] [Reference Citation Analysis]
25 Patel AP, Dron JS, Wang M, Pirruccello JP, Ng K, Natarajan P, Lebo M, Ellinor PT, Aragam KG, Khera AV. Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA Cardiol 2022. [PMID: 35544052 DOI: 10.1001/jamacardio.2022.0901] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
26 Quaio CRD'C, Ceroni JRM, Cervato MC, Thurow HS, Moreira CM, Trindade ACG, Furuzawa CR, de Souza RRF, Perazzio SF, Dutra AP, Chung CH, Kim CA. Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases. Sci Rep 2022;12:7764. [PMID: 35546177 DOI: 10.1038/s41598-022-11932-z] [Reference Citation Analysis]
27 Liles EG, Leo MC, Freed AS, Porter KM, Zepp JM, Kauffman TL, Keast E, McMullen CK, Gruß I, Biesecker BB, Muessig KR, Eubanks DJ, Amendola LM, Dorschner MO, Rolf BA, Jarvik GP, Goddard KAB, Wilfond BS. ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial. Genet Med 2022:S1098-3600(22)00725-0. [PMID: 35522237 DOI: 10.1016/j.gim.2022.04.008] [Reference Citation Analysis]
28 Li Q, Ren Z, Cao K, Li MM, Wang K, Zhou Y. CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer. Sci Adv 2022;8:eabj1624. [PMID: 35522753 DOI: 10.1126/sciadv.abj1624] [Reference Citation Analysis]
29 Yap TA, Ashok A, Stoll J, Mauer E, Nepomuceno VM, Blackwell KL, Garber JE, Meric-Bernstam F. Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines. JAMA Netw Open 2022;5:e2213070. [PMID: 35594047 DOI: 10.1001/jamanetworkopen.2022.13070] [Reference Citation Analysis]
30 Leppig KA, Kulchak Rahm A, Appelbaum P, Aufox S, Bland ST, Buchanan A, Christensen KD, Chung WK, Clayton EW, Crosslin D, Denny J, DeVange S, Gordon A, Green RC, Hakonarson H, Harr MH, Henrikson N, Hoell C, Holm IA, Kullo IJ, Jarvik GP, Lammers PE, Larson EB, Lindor NM, Marasa M, Myers MF, Perez E, Peterson JF, Pratap S, Prows CA, Ralston JD, Rasouly HM, Roden DM, Sharp RR, Singh R, Shaibi G, Smith ME, Sturm A, Thiese HA, Van Driest SL, Williams J, Williams MS, Wynn J, Blout Zawatsky CL, Wiesner GL. The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. Genet Med 2022;24:1130-8. [PMID: 35216901 DOI: 10.1016/j.gim.2022.01.015] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
31 Jegathisawaran J, Tsiplova K, Hayeems RZ, Marshall CR, Stavropoulos DJ, Pereira SL, Thiruvahindrapuram B, Liston E, Reuter MS, Manshaei R, Cohn I, Jobling R, Kim RH, Mital S, Ungar WJ. Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis. Genet Med 2022;24:1027-36. [PMID: 35219592 DOI: 10.1016/j.gim.2022.01.020] [Reference Citation Analysis]
32 Buchanan J, Hill M, Vass CM, Hammond J, Riedijk S, Klapwijk JE, Harding E, Lou S, Vogel I, Hui L, Ingvoldstad-Malmgren C, Soller MJ, Ormond KE, Choolani M, Zheng Q, Chitty LS, Lewis C. Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey. Prenat Diagn 2022. [PMID: 35476801 DOI: 10.1002/pd.6159] [Reference Citation Analysis]
33 Armstrong B, Christensen KD, Genetti CA, Parad RB, Robinson JO, Blout Zawatsky CL, Zettler B, Beggs AH, Holm IA, Green RC, Mcguire AL, Smith HS, Pereira S; The BabySeq Project Team. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet 2022;13:867371. [DOI: 10.3389/fgene.2022.867371] [Reference Citation Analysis]
34 Meiser B, Butow P, Davies G, Napier CE, Schlub TE, Bartley N, Juraskova I, Ballinger ML, Thomas DM, Best MC; members of the Psychosocial Issues in Genomics in Oncology (PiGeOn) Project. Psychological predictors of cancer patients' and their relatives' attitudes towards the return of genomic sequencing results. Eur J Med Genet 2022;:104516. [PMID: 35487418 DOI: 10.1016/j.ejmg.2022.104516] [Reference Citation Analysis]
35 Johnson LM, Mandrell BN, Li C, Lu Z, Gattuso J, Harrison LW, Mori M, Ouma AA, Pritchard M, Sharp KMH, Nichols KE. Managing Pandora's Box: Familial Expectations around the Return of (Future) Germline Results. AJOB Empir Bioeth 2022;:1-14. [PMID: 35471132 DOI: 10.1080/23294515.2022.2063994] [Reference Citation Analysis]
36 Lu T, Forgetta V, Richards JB, Greenwood CMT. Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases. Genet Med 2022:S1098-3600(22)00717-1. [PMID: 35460399 DOI: 10.1016/j.gim.2022.03.022] [Cited by in Crossref: 3] [Article Influence: 3.0] [Reference Citation Analysis]
37 Monte MA, Veroux M, Rodolico MS, Losi V, Di Pino L, Bella R, Lanza G, Monte IP. Fabry’s Disease: The Utility of a Multidisciplinary Screening Approach. Life 2022;12:623. [DOI: 10.3390/life12050623] [Reference Citation Analysis]
38 Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol 2022. [PMID: 35446370 DOI: 10.1001/jamaoncol.2022.0373] [Cited by in Crossref: 3] [Article Influence: 3.0] [Reference Citation Analysis]
39 Kucińska-chahwan A, Geremek M, Roszkowski T, Bijok J, Massalska D, Ciebiera M, Correia H, Pereira-caetano I, Barreta A, Obersztyn E, Kutkowska-kaźmierczak A, Własienko P, Krajewska-walasek M, Węgrzyn P, Dudarewicz L, Krzeszowski W, Rybak-krzyszkowska M, Nowakowska B. Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience. Genes 2022;13:724. [DOI: 10.3390/genes13050724] [Reference Citation Analysis]
40 Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL; Medical Genome Initiative*. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med 2022;7:27. [PMID: 35395838 DOI: 10.1038/s41525-022-00295-z] [Reference Citation Analysis]
41 Morales J, Pujar S, Loveland JE, Astashyn A, Bennett R, Berry A, Cox E, Davidson C, Ermolaeva O, Farrell CM, Fatima R, Gil L, Goldfarb T, Gonzalez JM, Haddad D, Hardy M, Hunt T, Jackson J, Joardar VS, Kay M, Kodali VK, McGarvey KM, McMahon A, Mudge JM, Murphy DN, Murphy MR, Rajput B, Rangwala SH, Riddick LD, Thibaud-Nissen F, Threadgold G, Vatsan AR, Wallin C, Webb D, Flicek P, Birney E, Pruitt KD, Frankish A, Cunningham F, Murphy TD. A joint NCBI and EMBL-EBI transcript set for clinical genomics and research. Nature 2022. [PMID: 35388217 DOI: 10.1038/s41586-022-04558-8] [Cited by in Crossref: 11] [Cited by in F6Publishing: 3] [Article Influence: 11.0] [Reference Citation Analysis]
42 Wilde AAM, Semsarian C, Márquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; ESC Scientific Document Group . European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace 2022:euac030. [PMID: 35373836 DOI: 10.1093/europace/euac030] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 5.0] [Reference Citation Analysis]
43 Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; Document Reviewers. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Heart Rhythm 2022:S1547-5271(22)01697-6. [PMID: 35390533 DOI: 10.1016/j.hrthm.2022.03.1225] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
44 Lippa N, Bier L, Revah-Politi A, May H, Kushary S, Vena N, Giordano JL, Rasouly HM, Cocchi E, Sands TT, Wapner RJ, Anyane-Yeboa K, Gharavi AG, Goldstein DB. Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting. Genet Med 2022;24:862-9. [PMID: 35078725 DOI: 10.1016/j.gim.2021.12.010] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
45 Smogavec M, Gerykova Bujalkova M, Lehner R, Neesen J, Behunova J, Yerlikaya-Schatten G, Reischer T, Altmann R, Weis D, Duba HC, Laccone F. Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations. Eur J Hum Genet 2022;30:428-38. [PMID: 34974531 DOI: 10.1038/s41431-021-01012-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
46 Nash BM, Ma A, Ho G, Farnsworth E, Minoche AE, Cowley MJ, Barnett C, Smith JM, Loi TH, Wong K, St Heaps L, Wright D, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies. Int J Mol Sci 2022;23:3905. [PMID: 35409265 DOI: 10.3390/ijms23073905] [Reference Citation Analysis]
47 Prokop JW, Jdanov V, Savage L, Morris M, Lamb N, VanSickle E, Stenger CL, Rajasekaran S, Bupp CP. Computational and Experimental Analysis of Genetic Variants. Compr Physiol 2022;12:3303-36. [PMID: 35578967 DOI: 10.1002/cphy.c210012] [Reference Citation Analysis]
48 Venner E, Muzny D, Smith JD, Walker K, Neben CL, Lockwood CM, Empey PE, Metcalf GA, Kachulis C, Mian S, Musick A, Rehm HL, Harrison S, Gabriel S, Gibbs RA, Nickerson D, Zhou AY, Doheny K, Ozenberger B, Topper SE, Lennon NJ; The All of Us Research Program Regulatory Working Group. Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. Genome Med 2022;14. [DOI: 10.1186/s13073-022-01031-z] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
49 Singh G, Gohh R, Clark D, Kalra K, Das M, Bradauskaite G, Bleyer AJ, Tanriover B, Chang AR, Anand PM. Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors. Genes 2022;13:592. [DOI: 10.3390/genes13040592] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
50 Caliskan Y, Lee B, Whelan AM, Abualrub F, Lentine KL, Jittirat A. Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment. Curr Transpl Rep. [DOI: 10.1007/s40472-021-00340-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
51 Cherukuri PF, Soe MM, Condon DE, Bartaria S, Meis K, Gu S, Frost FG, Fricke LM, Lubieniecki KP, Lubieniecka JM, Pyatt RE, Hajek C, Boerkoel CF, Carmichael L. Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets. BMC Med Genomics 2022;15:56. [PMID: 35287663 DOI: 10.1186/s12920-022-01199-8] [Reference Citation Analysis]
52 Uber R, Wright E. Pharmacogenomics implementation and multidisciplinary genomics collaboration: Real-world experience from Geisinger. Am J Health Syst Pharm 2022:zxac065. [PMID: 35279024 DOI: 10.1093/ajhp/zxac065] [Reference Citation Analysis]
53 Zhou G, Zhou M, Zeng F, Zhang N, Sun Y, Qiao Z, Guo X, Zhou S, Yun G, Xie J, Wang X, Liu F, Fan C, Wang Y, Fang Z, Tian Z, Dai W, Sun J, Peng Z, Song L. Performance characterization of PCR-free whole genome sequencing for clinical diagnosis. Medicine (Baltimore) 2022;101:e28972. [PMID: 35451387 DOI: 10.1097/MD.0000000000028972] [Reference Citation Analysis]
54 Best MC, Butow P, Savard J, Jacobs C, Bartley N, Davies G, Napier CE, Ballinger ML, Thomas DM, Biesecker B, Tucker KM, Juraskova I, Meiser B, Schlub T, Newson AJ. Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting. Eur J Hum Genet 2022. [PMID: 35277654 DOI: 10.1038/s41431-022-01069-y] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
55 Daum H, Segel R, Meiner V, Goldberg Y, Zeligson S, Weiss O, Stern S, Frumkin A, Zenvirt S, Ganz G, Shkedi-Rafid S. Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome. J Med Genet 2022:jmedgenet-2021-107890. [PMID: 35264407 DOI: 10.1136/jmedgenet-2021-107890] [Reference Citation Analysis]
56 Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, Brewer C, Drummond J, Butler S, Cranston T, Casey R, Tan T, Morganstein D, Eccles DM, Tischkowitz M, Turnbull C, Woodward ER, Maher ER; UK Cancer Genetics Centres. UK recommendations for SDHA germline genetic testing and surveillance in clinical practice. J Med Genet 2022:jmedgenet-2021-108355. [PMID: 35260474 DOI: 10.1136/jmedgenet-2021-108355] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
57 Naslavsky MS, Scliar MO, Yamamoto GL, Wang JYT, Zverinova S, Karp T, Nunes K, Ceroni JRM, de Carvalho DL, da Silva Simões CE, Bozoklian D, Nonaka R, Dos Santos Brito Silva N, da Silva Souza A, de Souza Andrade H, Passos MRS, Castro CFB, Mendes-Junior CT, Mercuri RLV, Miller TLA, Buzzo JL, Rego FO, Araújo NM, Magalhães WCS, Mingroni-Netto RC, Borda V, Guio H, Rojas CP, Sanchez C, Caceres O, Dean M, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E, Meyer D, Galante PAF, Guryev V, Castelli EC, Duarte YAO, Passos-Bueno MR, Zatz M. Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil. Nat Commun 2022;13:1004. [PMID: 35246524 DOI: 10.1038/s41467-022-28648-3] [Reference Citation Analysis]
58 Kim NK, Kim JW. A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting. Ann Lab Med 2022;42:296-7. [PMID: 34635625 DOI: 10.3343/alm.2022.42.2.296] [Reference Citation Analysis]
59 Zhao J, Guan Y, Mcbride CM. A Systematic Review of Theory-Informed Strategies Used in Interventions Fostering Family Genetic Risk Communication. Patient Education and Counseling 2022. [DOI: 10.1016/j.pec.2022.03.009] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
60 Klanderman BJ, Koch C, Machini K, Parpattedar SS, Bandyadka S, Lin CF, Hynes E, Lebo MS, Amr SS. Automated Pharmacogenomic Reports for Clinical Genome Sequencing. J Mol Diagn 2022;24:205-18. [PMID: 35041930 DOI: 10.1016/j.jmoldx.2021.12.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
61 Menko FH, Monkhorst K, Hogervorst FB, Rosenberg EH, Adank M, Ruijs MW, Bleiker EM, Sonke GS, Russell NS, Oldenburg HS, van der Kolk LE. Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation. Critical Reviews in Oncology/Hematology 2022. [DOI: 10.1016/j.critrevonc.2022.103642] [Reference Citation Analysis]
62 Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing? J Mol Diagn 2022;24:274-86. [PMID: 35065284 DOI: 10.1016/j.jmoldx.2021.12.002] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
63 Chen G, Xiong S, Zou G, Wu F, Qu X, Alawbathani S, Sun L. A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review. Mol Cytogenet 2022;15. [DOI: 10.1186/s13039-022-00584-3] [Reference Citation Analysis]
64 Veldman A, Kiewiet MBG, Heiner-fokkema MR, Nelen MR, Sinke RJ, Sikkema-raddatz B, Voorhoeve E, Westra D, Dollé MET, Schielen PCJI, van Spronsen FJ. Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead. IJNS 2022;8:17. [DOI: 10.3390/ijns8010017] [Reference Citation Analysis]
65 Reardon B, Moore ND, Moore NS, Kofman E, AlDubayan SH, Cheung ATM, Conway J, Elmarakeby H, Imamovic A, Kamran SC, Keenan T, Keliher D, Konieczkowski DJ, Liu D, Mouw KW, Park J, Vokes NI, Dietlein F, Van Allen EM. Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. Nat Cancer 2021;2:1102-12. [PMID: 35121878 DOI: 10.1038/s43018-021-00243-3] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 4.0] [Reference Citation Analysis]
66 Cheung F, Birch P, Friedman JM, Elliott AM, Adam S; CAUSES Study, GenCOUNSEL Study. The long‐term impact of receiving incidental findings on parents undergoing genome‐wide sequencing. Journal of Genetic Counseling. [DOI: 10.1002/jgc4.1558] [Reference Citation Analysis]
67 Baxi EG, Thompson T, Li J, Kaye JA, Lim RG, Wu J, Ramamoorthy D, Lima L, Vaibhav V, Matlock A, Frank A, Coyne AN, Landin B, Ornelas L, Mosmiller E, Thrower S, Farr SM, Panther L, Gomez E, Galvez E, Perez D, Meepe I, Lei S, Mandefro B, Trost H, Pinedo L, Banuelos MG, Liu C, Moran R, Garcia V, Workman M, Ho R, Wyman S, Roggenbuck J, Harms MB, Stocksdale J, Miramontes R, Wang K, Venkatraman V, Holewenski R, Sundararaman N, Pandey R, Manalo DM, Donde A, Huynh N, Adam M, Wassie BT, Vertudes E, Amirani N, Raja K, Thomas R, Hayes L, Lenail A, Cerezo A, Luppino S, Farrar A, Pothier L, Prina C, Morgan T, Jamil A, Heintzman S, Jockel-Balsarotti J, Karanja E, Markway J, McCallum M, Joslin B, Alibazoglu D, Kolb S, Ajroud-Driss S, Baloh R, Heitzman D, Miller T, Glass JD, Patel-Murray NL, Yu H, Sinani E, Vigneswaran P, Sherman AV, Ahmad O, Roy P, Beavers JC, Zeiler S, Krakauer JW, Agurto C, Cecchi G, Bellard M, Raghav Y, Sachs K, Ehrenberger T, Bruce E, Cudkowicz ME, Maragakis N, Norel R, Van Eyk JE, Finkbeiner S, Berry J, Sareen D, Thompson LM, Fraenkel E, Svendsen CN, Rothstein JD. Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. Nat Neurosci 2022. [PMID: 35115730 DOI: 10.1038/s41593-021-01006-0] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 9.0] [Reference Citation Analysis]
68 Liu L, Zhou M, Mao J, Deng Y, Cai Y. A case of Adams-Oliver syndrome associated with c.3190_3191del and c.4491 + 1G > T mutations in the DOCK6 gene. Meta Gene 2022;31:100988. [DOI: 10.1016/j.mgene.2021.100988] [Reference Citation Analysis]
69 Sarathy H, Salman LA, Lee C, Cohen JB. Evaluation and Management of Secondary Hypertension. Medical Clinics of North America 2022. [DOI: 10.1016/j.mcna.2021.11.004] [Reference Citation Analysis]
70 Chowns J, Hoffman-andrews L, Marzolf A, Reza N, Owens AT. Cardiovascular Genetics. Medical Clinics of North America 2022. [DOI: 10.1016/j.mcna.2021.11.007] [Reference Citation Analysis]
71 Bora E, Caglayan AO, Koc A, Cankaya T, Ozkalayci H, Kocabey M, Kemer D, Aksoy S, Alicikus ZA, Akin IB, Durak MG, Gurel D, Yavuzsen T, Sevinc A, Somali I, Gorken I, Balci P, Karaoglu A, Saydam S, Ulgenalp A. Evaluation of Hereditary/Familial Breast Cancer Patients with Multigene Targeted Next Generation Sequencing Panel and MLPA Analysis in Turkey. Cancer Genetics 2022. [DOI: 10.1016/j.cancergen.2022.02.006] [Reference Citation Analysis]
72 Murray MF. Enabling Diagnostic Resulting as a New Category of Secondary Genomic Findings. JPM 2022;12:158. [DOI: 10.3390/jpm12020158] [Reference Citation Analysis]
73 Etchegary H, Pullman D, Simmonds C, Rahman P. Public interest in unexpected genomic findings: a survey study identifying aspects of sequencing attitudes that influence preferences. J Community Genet. [DOI: 10.1007/s12687-022-00577-0] [Reference Citation Analysis]
74 Vears D, Amor DJ. A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom? Prenat Diagn 2022. [PMID: 35032068 DOI: 10.1002/pd.6097] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
75 Greve V, Odom K, Pudner S, Lamb NE, Cooper SJ, East K. Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative. HGG Adv 2022;3:100055. [PMID: 35047846 DOI: 10.1016/j.xhgg.2021.100055] [Reference Citation Analysis]
76 Owens K. The passivists: Managing risk through institutionalized ignorance in genomic medicine. Soc Sci Med 2022;294:114715. [PMID: 35033797 DOI: 10.1016/j.socscimed.2022.114715] [Reference Citation Analysis]
77 Kotecha UH, Mistri M, Rayabarapu P, Shah P, Shah N. The diagnostic utility of exome-based carrier screening in families with a positive family history. Am J Med Genet A 2022. [PMID: 34997808 DOI: 10.1002/ajmg.a.62633] [Reference Citation Analysis]
78 Ronquillo JG, Lester WT. Precision Medicine Landscape of Genomic Testing for Patients With Cancer in the National Institutes of Health All of Us Database Using Informatics Approaches. JCO Clin Cancer Inform 2022;6:e2100152. [PMID: 34985965 DOI: 10.1200/CCI.21.00152] [Reference Citation Analysis]
79 Kilbride MK, Bradbury AR. Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility. JCO Precis Oncol 2020;4:PO. [PMID: 34970636 DOI: 10.1200/PO.19.00317] [Cited by in Crossref: 4] [Article Influence: 4.0] [Reference Citation Analysis]
80 Matsui K, Yamamoto K, Tashiro S, Ibuki T. A systematic approach to the disclosure of genomic findings in clinical practice and research: a proposed framework with colored matrix and decision-making pathways. BMC Med Ethics 2021;22:168. [PMID: 34953504 DOI: 10.1186/s12910-021-00738-9] [Reference Citation Analysis]
81 Moon D, Park HW, Surl D, Won D, Lee ST, Shin S, Choi JR, Han J. Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort. Genes (Basel) 2021;13:27. [PMID: 35052368 DOI: 10.3390/genes13010027] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
82 Halvorsen M, Gould L, Wang X, Grant G, Moya R, Rabin R, Ackerman MJ, Tester DJ, Lin PT, Pappas JG, Maurano MT, Goldstein DB, Tsien RW, Devinsky O. De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca 2+ regulation. Proc Natl Acad Sci USA 2021;118:e2115140118. [DOI: 10.1073/pnas.2115140118] [Reference Citation Analysis]
83 Harrison SM, Austin-Tse CA, Kim S, Lebo M, Leon A, Murdock D, Radhakrishnan A, Shirts BH, Steeves M, Venner E, Gibbs RA, Jarvik GP, Rehm HL. Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat 2021. [PMID: 34923710 DOI: 10.1002/humu.24317] [Reference Citation Analysis]
84 Vaknin N, Azoulay N, Tsur E, Tripolszki K, Urzi A, Rolfs A, Bauer P, Achiron R, Lipitz S, Goldberg Y, Berger R, Shohat M. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses. Prenat Diagn 2021. [PMID: 34918830 DOI: 10.1002/pd.6077] [Reference Citation Analysis]
85 Akyüz K, Chassang G, Goisauf M, Kozera Ł, Mezinska S, Tzortzatou O, Mayrhofer MT. Biobanking and risk assessment: a comprehensive typology of risks for an adaptive risk governance. Life Sci Soc Policy 2021;17:10. [PMID: 34903285 DOI: 10.1186/s40504-021-00117-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
86 Huang Y, Bi B, Zhao P, Yu T, Luo S, Tan L, Liu Z, Liu J, He X. Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene. Mol Genet Genomic Med 2021;:e1846. [PMID: 34898052 DOI: 10.1002/mgg3.1846] [Reference Citation Analysis]
87 Tillmar A, Sturk-andreaggi K, Daniels-higginbotham J, Thomas JT, Marshall C. The FORCE Panel: An All-in-One SNP Marker Set for Confirming Investigative Genetic Genealogy Leads and for General Forensic Applications. Genes 2021;12:1968. [DOI: 10.3390/genes12121968] [Reference Citation Analysis]
88 Blout Zawatsky CL, Shah N, Machini K, Perez E, Christensen KD, Zouk H, Steeves M, Koch C, Uveges M, Shea J, Gold N, Krier J, Boutin N, Mahanta L, Rehm HL, Weiss ST, Karlson EW, Smoller JW, Lebo MS, Green RC. Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization. Am J Hum Genet 2021;108:2224-37. [PMID: 34752750 DOI: 10.1016/j.ajhg.2021.10.005] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
89 Uveges MK, Holm IA. Current Trends in Genetics and Neonatal Care. Adv Neonatal Care 2021;21:473-81. [PMID: 33538495 DOI: 10.1097/ANC.0000000000000834] [Reference Citation Analysis]
90 Gold NB, Green RC. Reevaluating the "right not to know" in genomics research. Genet Med 2021:S1098-3600(21)05353-3. [PMID: 34906468 DOI: 10.1016/j.gim.2021.10.003] [Reference Citation Analysis]
91 Kang HJ, Lee HY, Kim KT, Kim JW, Lee JY, Kim SW, Kim JC, Shin IS, Kim N, Kim JM. Genetic Differences between Physical Injury Patients With and Without Post-traumatic Syndrome: Focus on Secondary Findings and Potential Variants Revealed by Whole Exome Sequencing. Clin Psychopharmacol Neurosci 2021;19:683-94. [PMID: 34690123 DOI: 10.9758/cpn.2021.19.4.683] [Reference Citation Analysis]
92 Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Genome sequencing as a first-line diagnostic test for hospitalized infants. Genet Med 2021:S1098-3600(21)05400-9. [PMID: 34930662 DOI: 10.1016/j.gim.2021.11.020] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
93 Jalloul N, Gomy I, Stokes S, Gusev A, Johnson BE, Lindeman NI, Macconaill L, Ganesan S, Garber JE, Khiabanian H. Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing. JCO Precis Oncol 2021;5:PO. [PMID: 34820595 DOI: 10.1200/PO.21.00279] [Reference Citation Analysis]
94 Frone MN, Stewart DR, Savage SA, Khincha PP. Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome. JCO Precis Oncol 2021;5:PO. [PMID: 34805717 DOI: 10.1200/PO.21.00320] [Reference Citation Analysis]
95 Finucane B, Oetjens MT, Johns A, Myers SM, Fisher C, Habegger L, Maxwell EK, Reid JG, Ledbetter DH, Kirchner HL, Martin CL. Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants. Genet Med 2021:S1098-3600(21)05388-0. [PMID: 34906480 DOI: 10.1016/j.gim.2021.11.010] [Reference Citation Analysis]
96 Johnston JJ, Brennan ML, Radenbaugh B, Yoo SJ, Hernandez SM, Lewis KL, Katz AE, Manolio TA, Biesecker LG; NHGRI Reverse Phenotyping Core. The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort. Genet Med 2021:S1098-3600(21)05390-9. [PMID: 34906458 DOI: 10.1016/j.gim.2021.11.012] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
97 Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genet Med 2021:S1098-3600(21)04140-X. [PMID: 34906454 DOI: 10.1016/j.gim.2021.09.012] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 5.0] [Reference Citation Analysis]
98 Cunningham F, Allen JE, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Austine-Orimoloye O, Azov AG, Barnes I, Bennett R, Berry A, Bhai J, Bignell A, Billis K, Boddu S, Brooks L, Charkhchi M, Cummins C, Da Rin Fioretto L, Davidson C, Dodiya K, Donaldson S, El Houdaigui B, El Naboulsi T, Fatima R, Giron CG, Genez T, Martinez JG, Guijarro-Clarke C, Gymer A, Hardy M, Hollis Z, Hourlier T, Hunt T, Juettemann T, Kaikala V, Kay M, Lavidas I, Le T, Lemos D, Marugán JC, Mohanan S, Mushtaq A, Naven M, Ogeh DN, Parker A, Parton A, Perry M, Piližota I, Prosovetskaia I, Sakthivel MP, Salam AIA, Schmitt BM, Schuilenburg H, Sheppard D, Pérez-Silva JG, Stark W, Steed E, Sutinen K, Sukumaran R, Sumathipala D, Suner MM, Szpak M, Thormann A, Tricomi FF, Urbina-Gómez D, Veidenberg A, Walsh TA, Walts B, Willhoft N, Winterbottom A, Wass E, Chakiachvili M, Flint B, Frankish A, Giorgetti S, Haggerty L, Hunt SE, IIsley GR, Loveland JE, Martin FJ, Moore B, Mudge JM, Muffato M, Perry E, Ruffier M, Tate J, Thybert D, Trevanion SJ, Dyer S, Harrison PW, Howe KL, Yates AD, Zerbino DR, Flicek P. Ensembl 2022. Nucleic Acids Res 2021:gkab1049. [PMID: 34791404 DOI: 10.1093/nar/gkab1049] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
99 Hayeems RZ, Luca S, Ungar WJ, Venkataramanan V, Tsiplova K, Bashir NS, Costain G, Inglese C, McNiven V, Quercia N, Shugar A, Yoon G, Cytrynbaum C, Dupuis L, Shao Z, Hewson S, Shuman C, Aul R, Liston E, Babul-Hirji R, Bushby A, Pullenayegum E, Chad L, Meyn MS. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability. Genet Med 2021:S1098-3600(21)05355-7. [PMID: 34906486 DOI: 10.1016/j.gim.2021.10.005] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
100 Marangoni M, Smits G, Ceysens G, Costa E, Coulon R, Daelemans C, De Coninck C, Derisbourg S, Gajewska K, Garofalo G, Gounongbe C, Guizani M, Holoye A, Houba C, Makhoul J, Norgaard C, Regnard C, Romée S, Soto J, Stagel-Trabbia A, Van Rysselberge M, Vercoutere A, Zaytouni S, Bouri S, D'Haene N, D'Onle D, Dugauquier C, Racu ML, Rocq L, Segers V, Verocq C, Avni EF, Cassart M, Massez A, Blaumeiser B, Brischoux-Boucher E, Bulk S, De Ravel T, Debray G, Dimitrov B, Janssens S, Keymolen K, Laterre M, van Berkel K, Van Maldergem L, Vandernoot I, Vilain C, Donner C, Tecco L, Thomas D, Désir J, Abramowicz M, Migeotte I. Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts. Genet Med 2021:S1098-3600(21)05244-8. [PMID: 34906519 DOI: 10.1016/j.gim.2021.09.016] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
101 Laan M, Kasak L, Punab M. Translational aspects of novel findings in genetics of male infertility-status quo 2021. Br Med Bull 2021:ldab025. [PMID: 34755838 DOI: 10.1093/bmb/ldab025] [Reference Citation Analysis]
102 Sebastian A, Carroll JC, Vanstone M, Clausen M, Kodida R, Reble E, Mighton C, Shickh S, Aronson M, Eisen A, Elser C, Lerner-Ellis J, Kim RH, Bombard Y. Challenges and practical solutions for managing secondary genomic findings in primary care. Eur J Med Genet 2021;65:104384. [PMID: 34768014 DOI: 10.1016/j.ejmg.2021.104384] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
103 Vears DF, Minion JT, Roberts SJ, Cummings J, Machirori M, Blell M, Budin-Ljøsne I, Cowley L, Dyke SOM, Gaff C, Green R, Hall A, Johns AL, Knoppers BM, Mulrine S, Patch C, Winkler E, Murtagh MJ. Return of individual research results from genomic research: A systematic review of stakeholder perspectives. PLoS One 2021;16:e0258646. [PMID: 34748551 DOI: 10.1371/journal.pone.0258646] [Reference Citation Analysis]
104 Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Conceptualization of utility in translational clinical genomics research. Am J Hum Genet 2021;108:2027-36. [PMID: 34687653 DOI: 10.1016/j.ajhg.2021.08.013] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
105 Takahashi K. Pheochromocytoma and Paraganglioma: Challenges and Opportunities in 2021. Intern Med 2021;60:3349-50. [PMID: 34024860 DOI: 10.2169/internalmedicine.7413-21] [Reference Citation Analysis]
106 Antoniades A, Papaioannou M, Malatras A, Papagregoriou G, Müller H, Holub P, Deltas C, Schizas CN. Integration of Biobanks in National eHealth Ecosystems Facilitating Long-Term Longitudinal Clinical-Omics Studies and Citizens' Engagement in Research Through eHealthBioR. Front Digit Health 2021;3:628646. [PMID: 34713101 DOI: 10.3389/fdgth.2021.628646] [Reference Citation Analysis]
107 Frazer J, Notin P, Dias M, Gomez A, Min JK, Brock K, Gal Y, Marks DS. Disease variant prediction with deep generative models of evolutionary data. Nature 2021;599:91-5. [PMID: 34707284 DOI: 10.1038/s41586-021-04043-8] [Reference Citation Analysis]
108 Hagio K, Hatanaka KC, Amano T, Matsuno Y, Hatanaka Y, Yamashita H. Genetic heterogeneity during breast cancer progression in young patients. Breast 2021;60:206-13. [PMID: 34736091 DOI: 10.1016/j.breast.2021.10.011] [Reference Citation Analysis]
109 Ramensky VE, Ershova AI, Zaicenoka M, Kiseleva AV, Zharikova AA, Vyatkin YV, Sotnikova EA, Efimova IA, Divashuk MG, Kurilova OV, Skirko OP, Muromtseva GA, Belova OA, Rachkova SA, Pokrovskaya MS, Shalnova SA, Meshkov AN, Drapkina OM. Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. Front Genet 2021;12:709419. [PMID: 34691145 DOI: 10.3389/fgene.2021.709419] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
110 Comber DA, Davies B, Roberts JD, Tadros R, Green MS, Healey JS, Simpson CS, Sanatani S, Steinberg C, MacIntyre C, Angaran P, Duff H, Hamilton R, Arbour L, Leather R, Seifer C, Fournier A, Atallah J, Kimber S, Makanjee B, Alqarawi W, Cadrin-Tourigny J, Joza J, Gibbs K, Robb L, Zahavich L, Gardner M, Talajic M, Virani A, Krahn AD, Lehman A, Laksman ZWM. Return of Results Policies for Genomic Research: Current Practices & The Hearts in Rhythm Organization Approach. Can J Cardiol 2021:S0828-282X(21)00807-2. [PMID: 34715283 DOI: 10.1016/j.cjca.2021.10.006] [Reference Citation Analysis]
111 van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, van Agt F, Arens YHJM, Brunner HG, Vissers LELM, Yntema HG. Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals. Eur J Hum Genet 2021. [PMID: 34697415 DOI: 10.1038/s41431-021-00964-0] [Reference Citation Analysis]
112 Thaxton C, Good ME, DiStefano MT, Luo X, Andersen EF, Thorland E, Berg J, Martin CL, Rehm HL, Riggs ER; ClinGen Gene Curation Working Group., ClinGen Dosage Sensitivity Working Group. Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification. Hum Mutat 2021. [PMID: 34694049 DOI: 10.1002/humu.24291] [Reference Citation Analysis]
113 Lillie N, Prows CA, McGowan ML, Blumling AA, Myers MF. Experiences of adolescents and their parents after receiving adolescents' genomic screening results. J Genet Couns 2021. [PMID: 34695272 DOI: 10.1002/jgc4.1528] [Reference Citation Analysis]
114 Haga SB. Revisiting Secondary Information Related to Pharmacogenetic Testing. Front Genet 2021;12:741395. [PMID: 34659361 DOI: 10.3389/fgene.2021.741395] [Reference Citation Analysis]
115 Truong H, Sheikh R, Kotecha R, Kemel Y, Reisz PA, Lenis AT, Mehta NN, Khurram A, Joseph V, Mandelker D, Latham A, Ceyhan-Birsoy O, Ladanyi M, Shah NJ, Walsh MF, Voss MH, Lee CH, Russo P, Coleman JA, Hakimi AA, Feldman DR, Stadler ZK, Robson ME, Motzer RJ, Offit K, Patil S, Carlo MI. Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing. Eur Urol Oncol 2021:S2588-9311(21)00180-2. [PMID: 34654685 DOI: 10.1016/j.euo.2021.09.005] [Reference Citation Analysis]
116 Chetruengchai W, Shotelersuk V. Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes. J Hum Genet 2021. [PMID: 34621001 DOI: 10.1038/s10038-021-00982-2] [Reference Citation Analysis]
117 Hirsch S, Dikow N, Pfister SM, Pajtler KW. Cancer predisposition in pediatric neuro-oncology-practical approaches and ethical considerations. Neurooncol Pract 2021;8:526-38. [PMID: 34594567 DOI: 10.1093/nop/npab031] [Reference Citation Analysis]
118 Hekel R, Budis J, Kucharik M, Radvanszky J, Pös Z, Szemes T. Privacy-preserving storage of sequenced genomic data. BMC Genomics 2021;22:712. [PMID: 34600465 DOI: 10.1186/s12864-021-07996-2] [Reference Citation Analysis]
119 Kang E, Chung LY, Kim YJ, Oh KE, Rhie Y. Monogenic diabetes mellitus and clinical implications of genetic diagnosis. Precis Future Med 2021;5:106-16. [DOI: 10.23838/pfm.2021.00100] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
120 Zhu X, Yang M, Zhao P, Li S, Zhang L, Huang L, Huang Y, Fei P, Yang Y, Zhang S, Xu H, Yuan Y, Zhang X, Zhu X, Ma S, Hao F, Sundaresan P, Zhu W, Yang Z. Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling. J Clin Invest 2021;131:139869. [PMID: 33497368 DOI: 10.1172/JCI139869] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
121 Higgs E, Dagan-Rosenfeld O, Snyder M. Adapting skills from genetic counseling to wearables technology research during the COVID-19 pandemic: Poised for the pivot. J Genet Couns 2021;30:1269-75. [PMID: 34580951 DOI: 10.1002/jgc4.1509] [Reference Citation Analysis]
122 Peng Y, Yang S, Huang X, Pang J, Liu J, Hu J, Shen X, Tang C, Wang H. Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases. Front Genet 2021;12:728544. [PMID: 34567078 DOI: 10.3389/fgene.2021.728544] [Reference Citation Analysis]
123 Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ; NICUSeq Study Group. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr 2021. [PMID: 34570182 DOI: 10.1001/jamapediatrics.2021.3496] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
124 O'Neill SC, Hamilton JG, Conley CC, Peshkin BN, Sacca R, McDonnell GA, Isaacs C, Robson ME, Tercyak KP. Improving our model of cascade testing for hereditary cancer risk by leveraging patient peer support: a concept report. Hered Cancer Clin Pract 2021;19:40. [PMID: 34565430 DOI: 10.1186/s13053-021-00198-7] [Reference Citation Analysis]
125 Lazier J, Hartley T, Brock JA, Caluseriu O, Chitayat D, Laberge AM, Langlois S, Lauzon J, Nelson TN, Parboosingh J, Stavropoulos DJ, Boycott K, Armour CM; Canadian College of Medical Geneticists. Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists. J Med Genet 2021:jmedgenet-2021-107897. [PMID: 34544840 DOI: 10.1136/jmedgenet-2021-107897] [Reference Citation Analysis]
126 de Marvao A, McGurk KA, Zheng SL, Thanaj M, Bai W, Duan J, Biffi C, Mazzarotto F, Statton B, Dawes TJW, Savioli N, Halliday BP, Xu X, Buchan RJ, Baksi AJ, Quinlan M, Tokarczuk P, Tayal U, Francis C, Whiffin N, Theotokis PI, Zhang X, Jang M, Berry A, Pantazis A, Barton PJR, Rueckert D, Prasad SK, Walsh R, Ho CY, Cook SA, Ware JS, O'Regan DP. Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy. J Am Coll Cardiol 2021;78:1097-110. [PMID: 34503678 DOI: 10.1016/j.jacc.2021.07.017] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
127 Tafazoli A, Guchelaar HJ, Miltyk W, Kretowski AJ, Swen JJ. Applying Next-Generation Sequencing Platforms for Pharmacogenomic Testing in Clinical Practice. Front Pharmacol 2021;12:693453. [PMID: 34512329 DOI: 10.3389/fphar.2021.693453] [Reference Citation Analysis]
128 Aloraini T, Alsubaie L, Alasker S, Al Muitiri A, Alswaid A, Eyiad W, Al Mutairi F, Ababneh F, Alfadhel M, Alfares A. The rate of secondary genomic findings in the Saudi population. Am J Med Genet A 2021. [PMID: 34515413 DOI: 10.1002/ajmg.a.62491] [Reference Citation Analysis]
129 Zhang H, Colclough K, Gloyn AL, Pollin TI. Monogenic diabetes: a gateway to precision medicine in diabetes. J Clin Invest 2021;131:142244. [PMID: 33529164 DOI: 10.1172/JCI142244] [Cited by in Crossref: 2] [Article Influence: 2.0] [Reference Citation Analysis]
130 Mirham L, Hanna J, Yousef GM. Addressing the Diagnostic Miscommunication in Pathology. Am J Clin Pathol 2021;156:521-8. [PMID: 33907793 DOI: 10.1093/ajcp/aqab014] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
131 Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H, Shuldiner AR, Van Hout CV, Gonzaga-Jauregui C, Mitchell BD; Regeneron Genetics Center. The burden of pathogenic variants in clinically actionable genes in a founder population. Am J Med Genet A 2021;185:3476-84. [PMID: 34467620 DOI: 10.1002/ajmg.a.62472] [Reference Citation Analysis]
132 Owens K. "The ultimate risk:" How clinicians assess the value and meaning of genetic data in cardiology. Clin Ethics 2021;16:189-95. [PMID: 34650330 DOI: 10.1177/1477750920959562] [Reference Citation Analysis]
133 Sapp JC, Facio FM, Cooper D, Lewis KL, Modlin E, van der Wees P, Biesecker LG. A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings. Genet Med 2021. [PMID: 34433902 DOI: 10.1038/s41436-021-01295-7] [Reference Citation Analysis]
134 Duan DM, Chiu HH, Chen PL, Yeh PT, Yu CW, Yang KC, Yu CC. Clinical manifestations and genetic characteristics in the Taiwan thoracic aortic aneurysm and dissection cohort - a prospective cohort study. J Formos Med Assoc 2021:S0929-6646(21)00392-2. [PMID: 34456093 DOI: 10.1016/j.jfma.2021.08.016] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
135 Christensen KD, Schonman EF, Robinson JO, Roberts JS, Diamond PM, Lee KB, Green RC, McGuire AL. Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients. NPJ Genom Med 2021;6:72. [PMID: 34429410 DOI: 10.1038/s41525-021-00236-2] [Reference Citation Analysis]
136 Elfatih A, Mifsud B, Syed N, Badii R, Mbarek H, Abbaszadeh F, Estivill X; Qatar Genome Program Research Consortium. Actionable genomic variants in 6045 participants from the Qatar Genome Program. Hum Mutat 2021. [PMID: 34428338 DOI: 10.1002/humu.24278] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
137 Landstrom AP, Kim JJ, Gelb BD, Helm BM, Kannankeril PJ, Semsarian C, Sturm AC, Tristani-Firouzi M, Ware SM; American Heart Association Council on Genomic and Precision Medicine; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Arteriosclerosis, Thrombosis and Vascular Biology; and Council on Lifestyle and Cardiometabolic Health. Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association. Circ Genom Precis Med 2021;14:e000086. [PMID: 34412507 DOI: 10.1161/HCG.0000000000000086] [Reference Citation Analysis]
138 Foil KE. Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency. Ther Adv Chronic Dis 2021;12_suppl:20406223211015954. [PMID: 34408833 DOI: 10.1177/20406223211015954] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
139 Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med 2021;19:199. [PMID: 34404389 DOI: 10.1186/s12916-021-01999-2] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
140 Yang M, Xie H, Xu B, Xiang Q, Wang H, Hu T, Liu S. Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing. J Clin Lab Anal 2021;35:e23968. [PMID: 34403521 DOI: 10.1002/jcla.23968] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
141 Cercek A, Chatila WK, Yaeger R, Walch H, Fernandes GDS, Krishnan A, Palmaira L, Maio A, Kemel Y, Srinivasan P, Bandlamudi C, Salo-Mullen E, Tejada PR, Belanfanti K, Galle J, Joseph V, Segal N, Varghese A, Reidy-Lagunes D, Shia J, Vakiani E, Mondaca S, Mendelsohn R, Lumish MA, Steinruecke F, Kemeny N, Connell L, Ganesh K, Markowitz A, Nash G, Guillem J, Smith JJ, Paty PB, Zhang L, Mandelker D, Birsoy O, Robson M, Offit K, Taylor B, Berger M, Solit D, Weiser M, Saltz LB, Aguilar JG, Schultz N, Diaz LA, Stadler ZK. A Comprehensive Comparison of Early-Onset and Average-Onset Colorectal Cancers. J Natl Cancer Inst 2021:djab124. [PMID: 34405229 DOI: 10.1093/jnci/djab124] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
142 Chart NA, Kisor DF, Farrell CL. Defining the role of pharmacists in medication-related genetic counseling. Per Med 2021;18:509-22. [PMID: 34402307 DOI: 10.2217/pme-2021-0005] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
143 Ezekian JE, Rehder C, Kishnani PS, Landstrom AP. Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies. Circ Genom Precis Med 2021;14:e003200. [PMID: 34384235 DOI: 10.1161/CIRCGEN.120.003200] [Reference Citation Analysis]
144 Lekstutiene J, Holm S, Gefenas E. Biobanks and Individual Health Related Findings: from an Obstacle to an Incentive. Sci Eng Ethics 2021;27:55. [PMID: 34379215 DOI: 10.1007/s11948-021-00330-9] [Reference Citation Analysis]
145 Wilcox E, Harrison SM, Lockhart E, Voelkerding K, Lubin IM, Rehm HL, Kalman L, Funke B; ClinGen Expert Panels. Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project. J Mol Diagn 2021:S1525-1578(21)00243-9. [PMID: 34384894 DOI: 10.1016/j.jmoldx.2021.07.018] [Reference Citation Analysis]
146 Shickh S, Mighton C, Uleryk E, Pechlivanoglou P, Bombard Y. The clinical utility of exome and genome sequencing across clinical indications: a systematic review. Hum Genet 2021. [PMID: 34368901 DOI: 10.1007/s00439-021-02331-x] [Reference Citation Analysis]
147 Saelaert M, Mertes H, Moerenhout T, Van Cauwenbergh C, Leroy BP, Devisch I, De Baere E. A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings. Sci Rep 2021;11:15834. [PMID: 34349199 DOI: 10.1038/s41598-021-95258-2] [Reference Citation Analysis]
148 Wong AK, Sealfon RSG, Theesfeld CL, Troyanskaya OG. Decoding disease: from genomes to networks to phenotypes. Nat Rev Genet 2021. [PMID: 34341555 DOI: 10.1038/s41576-021-00389-x] [Reference Citation Analysis]
149 Zhytnik L, Peters M, Tilk K, Simm K, Tõnisson N, Reimand T, Maasalu K, Acharya G, Krjutškov K, Salumets A. From late fatherhood to prenatal screening of monogenic disorders: evidence and ethical concerns. Hum Reprod Update 2021:dmab023. [PMID: 34329448 DOI: 10.1093/humupd/dmab023] [Reference Citation Analysis]
150 Peltekova I, Buhas D, Stern L, Kirby E, Yusuf A, Elsabbagh M. Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series. J Pers Med 2021;11:755. [PMID: 34442399 DOI: 10.3390/jpm11080755] [Reference Citation Analysis]
151 Horak P, Leichsenring J, Goldschmid H, Kreutzfeldt S, Kazdal D, Teleanu V, Endris V, Gieldon L, Allgäuer M, Volckmar AL, Dikow N, Renner M, Kirchner M, Penzel R, Ploeger C, Brandt R, Seker-Cin H, Budczies J, Heilig CE, Neumann O, Schaaf CP, Schirmacher P, Fröhling S, Stenzinger A. Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine. Genes Chromosomes Cancer 2021. [PMID: 34331337 DOI: 10.1002/gcc.22987] [Reference Citation Analysis]
152 Achatz MI, Caleffi M, Guindalini R, Marques RM, Nogueira-Rodrigues A, Ashton-Prolla P. Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil. JCO Glob Oncol 2020;6:439-52. [PMID: 32155091 DOI: 10.1200/JGO.19.00170] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 5.0] [Reference Citation Analysis]
153 Choi SH, Jurgens SJ, Haggerty CM, Hall AW, Halford JL, Morrill VN, Weng LC, Lagerman B, Mirshahi T, Pettinger M, Guo X, Lin HJ, Alonso A, Soliman EZ, Kornej J, Lin H, Moscati A, Nadkarni GN, Brody JA, Wiggins KL, Cade BE, Lee J, Austin-Tse C, Blackwell T, Chaffin MD, Lee CJ, Rehm HL, Roselli C, Redline S, Mitchell BD, Sotoodehnia N, Psaty BM, Heckbert SR, Loos RJF, Vasan RS, Benjamin EJ, Correa A, Boerwinkle E, Arking DE, Rotter JI, Rich SS, Whitsel EA, Perez M, Kooperberg C, Fornwalt BK, Lunetta KL, Ellinor PT, Lubitz SA; Regeneron Genetics Center., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis. Circ Genom Precis Med 2021;14:e003300. [PMID: 34319147 DOI: 10.1161/CIRCGEN.120.003300] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
154 Cochran M, East K, Greve V, Kelly M, Kelley W, Moore T, Myers RM, Odom K, Schroeder MC, Bick D. A study of elective genome sequencing and pharmacogenetic testing in an unselected population. Mol Genet Genomic Med 2021;:e1766. [PMID: 34313030 DOI: 10.1002/mgg3.1766] [Reference Citation Analysis]
155 AlFayyad I, Al-Tannir M, Abu-Shaheen A, AlGhamdi S. To disclose, or not to disclose? Perspectives of clinical genomics professionals toward returning incidental findings from genomic research. BMC Med Ethics 2021;22:101. [PMID: 34315465 DOI: 10.1186/s12910-021-00670-y] [Reference Citation Analysis]
156 Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC, Bachmann GA, Rabson AB, Holm IA; BabySeq Project Team. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns 2021. [PMID: 34309124 DOI: 10.1002/jgc4.1475] [Reference Citation Analysis]
157 Ueki A, Sugano K, Misu K, Aimono E, Nakamura K, Tanishima S, Tanaka N, Mikami S, Hirasawa A, Ando M, Yoshida T, Oya M, Nishihara H, Kosaki K. Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling. Int J Mol Sci 2021;22:7962. [PMID: 34360727 DOI: 10.3390/ijms22157962] [Reference Citation Analysis]
158 Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol 2021;20:573-84. [PMID: 34146515 DOI: 10.1016/S1474-4422(21)00098-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
159 Burdon KP. The utility of genomic testing in the ophthalmology clinic: A review. Clin Exp Ophthalmol 2021;49:615-25. [PMID: 34231298 DOI: 10.1111/ceo.13970] [Reference Citation Analysis]
160 Leveson J, Oates TM. Exome sequencing as a diagnostic tool in chronic kidney disease: ready for clinical application? Curr Opin Nephrol Hypertens 2020;29:608-12. [PMID: 32889981 DOI: 10.1097/MNH.0000000000000639] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
161 Turbitt E, Biesecker BB. A primer in genomics for social and behavioral investigators. Transl Behav Med 2020;10:451-6. [PMID: 30793199 DOI: 10.1093/tbm/ibz018] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
162 Auzanneau C, Bacq D, Bellera C, Blons H, Boland A, Boucheix M, Bourdon A, Chollet E, Chomienne C, Deleuze JF, Delmas C, Dinart D, Espérou H, Geillon F, Geneste D, Italiano A, Jean D, Khalifa E, Laizet Y, Laurent-Puig P, Lethimonnier F, Lévy-Marchal C, Lucchesi C, Malle C, Mancini P, Mathoulin-Pélissier S, Meyer V, Marie-Ange P, Perkins G, Sellan-Albert S, Soubeyran I, Wallet C; FGM 2025 Workflow Study Group (Alliance nationale des Sciences de la Vie et de la Santé). Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan. ESMO Open 2020;5:e000744. [PMID: 32713836 DOI: 10.1136/esmoopen-2020-000744] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
163 Tlemsani C, Takahashi N, Pongor L, Rajapakse VN, Tyagi M, Wen X, Fasaye GA, Schmidt KT, Desai P, Kim C, Rajan A, Swift S, Sciuto L, Vilimas R, Webb S, Nichols S, Figg WD, Pommier Y, Calzone K, Steinberg SM, Wei JS, Guha U, Turner CE, Khan J, Thomas A. Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies. Sci Transl Med 2021;13:eabc7488. [PMID: 33504652 DOI: 10.1126/scitranslmed.abc7488] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
164 Kawame H, Fukushima A, Fuse N, Nagami F, Suzuki Y, Sakurai-Yageta M, Yasuda J, Yamaguchi-Kabata Y, Kinoshita K, Ogishima S, Takai T, Kuriyama S, Hozawa A, Nakaya N, Nakamura T, Minegishi N, Sugawara J, Suzuki K, Tomita H, Uruno A, Kobayashi T, Aizawa Y, Tokutomi T, Yamamoto K, Ohneda K, Kure S, Aoki Y, Katagiri H, Ishigaki Y, Sawada S, Sasaki M, Yamamoto M. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. J Hum Genet 2021. [PMID: 34234266 DOI: 10.1038/s10038-021-00952-8] [Reference Citation Analysis]
165 Kalfakakou D, Fostira F, Papathanasiou A, Apostolou P, Dellatola V, Gavra IE, Vlachos IS, Scouras ZG, Drosopoulou E, Yannoukakos D, Konstantopoulou I. CanVaS: Documenting the genetic variation spectrum of Greek cancer patients. Hum Mutat 2021;42:1081-93. [PMID: 34174131 DOI: 10.1002/humu.24249] [Reference Citation Analysis]
166 Wang Z, Xu H, Xiang T, Liu D, Xu F, Zhao L, Feng Y, Xu L, Liu J, Fang Y, Liu H, Li R, Hu X, Guan J, Liu L, Feng G, Shen Q, Xu H, Frishman D, Tang W, Guo J, Rao J, Shang W. An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease. NPJ Genom Med 2021;6:57. [PMID: 34215756 DOI: 10.1038/s41525-021-00219-3] [Reference Citation Analysis]
167 Finkle JD, Boulos H, Driessen TM, Lo C, Blidner RA, Hafez A, Khan AA, Lozac'hmeur A, McKinnon KE, Perera J, Zhu W, Dowlati A, White KP, Tell R, Beaubier N. Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA. NPJ Precis Oncol 2021;5:63. [PMID: 34215841 DOI: 10.1038/s41698-021-00202-2] [Reference Citation Analysis]
168 Fontes Marx M, Ataguba JE, de Vries J, Wonkam A. Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research. Front Public Health 2021;9:697381. [PMID: 34277554 DOI: 10.3389/fpubh.2021.697381] [Reference Citation Analysis]
169 Li H, Dawood M, Khayat MM, Farek JR, Jhangiani SN, Khan ZM, Mitani T, Coban-Akdemir Z, Lupski JR, Venner E, Posey JE, Sabo A, Gibbs RA. Exome variant discrepancies due to reference-genome differences. Am J Hum Genet 2021;108:1239-50. [PMID: 34129815 DOI: 10.1016/j.ajhg.2021.05.011] [Cited by in Crossref: 14] [Cited by in F6Publishing: 4] [Article Influence: 14.0] [Reference Citation Analysis]
170 Arriaga-MacKenzie IS, Matesi G, Chen S, Ronco A, Marker KM, Hall JR, Scherenberg R, Khajeh-Sharafabadi M, Wu Y, Gignoux CR, Null M, Hendricks AE. Summix: A method for detecting and adjusting for population structure in genetic summary data. Am J Hum Genet 2021;108:1270-82. [PMID: 34157305 DOI: 10.1016/j.ajhg.2021.05.016] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
171 Ku GY, Kemel Y, Maron SB, Chou JF, Ravichandran V, Shameer Z, Maio A, Won ES, Kelsen DP, Ilson DH, Capanu M, Strong VE, Molena D, Sihag S, Jones DR, Coit DG, Tuvy Y, Cowie K, Solit DB, Schultz N, Hechtman JF, Offit K, Joseph V, Mandelker D, Janjigian YY, Stadler ZK. Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric Cancer. JAMA Netw Open 2021;4:e2114753. [PMID: 34251444 DOI: 10.1001/jamanetworkopen.2021.14753] [Reference Citation Analysis]
172 Cléophat JE, Dorval M, El Haffaf Z, Chiquette J, Collins S, Malo B, Fradet V, Joly Y, Nabi H. Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings. BMC Med Genomics 2021;14:167. [PMID: 34174888 DOI: 10.1186/s12920-021-01016-8] [Reference Citation Analysis]
173 Rosenquist R, Cuppen E, Buettner R, Caldas C, Dreau H, Elemento O, Frederix G, Grimmond S, Haferlach T, Jobanputra V, Meggendorfer M, Mullighan CG, Wordsworth S, Schuh A. Clinical utility of whole-genome sequencing in precision oncology. Semin Cancer Biol 2021:S1044-579X(21)00189-9. [PMID: 34175442 DOI: 10.1016/j.semcancer.2021.06.018] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 6.0] [Reference Citation Analysis]
174 Busch AS, Ljubicic ML, Upners EN, Fischer MB, Kolby N, Eckert-Lind C, Jespersen K, Andersson AM, Frederiksen H, Johannsen TH, Hegaard HK, Sharif H, Hagen CP, Juul A. Cohort profile: The COPENHAGEN Minipuberty Study-A longitudinal prospective cohort of healthy full-term infants and their parents. Paediatr Perinat Epidemiol 2021;35:601-11. [PMID: 34156716 DOI: 10.1111/ppe.12777] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
175 Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T. Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Hum Genet 2021. [PMID: 34148116 DOI: 10.1007/s00439-021-02303-1] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
176 Verlouw JAM, Clemens E, de Vries JH, Zolk O, Verkerk AJMH, Am Zehnhoff-Dinnesen A, Medina-Gomez C, Lanvers-Kaminsky C, Rivadeneira F, Langer T, van Meurs JBJ, van den Heuvel-Eibrink MM, Uitterlinden AG, Broer L. A comparison of genotyping arrays. Eur J Hum Genet 2021. [PMID: 34140649 DOI: 10.1038/s41431-021-00917-7] [Reference Citation Analysis]
177 Conley BA, Staudt L, Takebe N, Wheeler DA, Wang L, Cardenas MF, Korchina V, Zenklusen JC, McShane LM, Tricoli JV, Williams PM, Lubensky I, O'Sullivan-Coyne G, Kohn E, Little RF, White J, Malik S, Harris LN, Mann B, Weil C, Tarnuzzer R, Karlovich C, Rodgers B, Shankar L, Jacobs PM, Nolan T, Berryman SM, Gastier-Foster J, Bowen J, Leraas K, Shen H, Laird PW, Esteller M, Miller V, Johnson A, Edmondson EF, Giordano TJ, Kim B, Ivy SP. The Exceptional Responders Initiative: Feasibility of a National Cancer Institute Pilot Study. J Natl Cancer Inst 2021;113:27-37. [PMID: 32339229 DOI: 10.1093/jnci/djaa061] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 5.0] [Reference Citation Analysis]
178 Stadler ZK, Maio A, Chakravarty D, Kemel Y, Sheehan M, Salo-Mullen E, Tkachuk K, Fong CJ, Nguyen B, Erakky A, Cadoo K, Liu Y, Carlo MI, Latham A, Zhang H, Kundra R, Smith S, Galle J, Aghajanian C, Abu-Rustum N, Varghese A, O'Reilly EM, Morris M, Abida W, Walsh M, Drilon A, Jayakumaran G, Zehir A, Ladanyi M, Ceyhan-Birsoy O, Solit DB, Schultz N, Berger MF, Mandelker D, Diaz LA Jr, Offit K, Robson ME. Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. J Clin Oncol 2021;39:2698-709. [PMID: 34133209 DOI: 10.1200/JCO.20.03661] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
179 Reynolds TM, Wierzbicki AS, Skrahina V, Beetz C; PATHFINDER Project Collaboration group. Screening for patients with Gaucher's disease using routine pathology results: PATHFINDER (ferritin, alkaline phosphatase, platelets) study. Int J Clin Pract 2021;75:e14422. [PMID: 34053162 DOI: 10.1111/ijcp.14422] [Reference Citation Analysis]
180 Mezina A, Philips N, Bogus Z, Erez N, Xiao R, Fan R, Olthoff KM, Reddy KR, Samadder NJ, Nielsen SM, Hatchell KE, Esplin ED, Rustgi AK, Katona BW, Hoteit MA, Nathanson KL, Wangensteen KJ. Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants. JCO Precis Oncol 2021;5:PO. [PMID: 34250406 DOI: 10.1200/PO.21.00079] [Reference Citation Analysis]
181 Chen W, Qin J, Shen Y, Liang J, Cui Y, Zhang Y. Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study. Brain Dev 2021:S0387-7604(21)00103-0. [PMID: 34120799 DOI: 10.1016/j.braindev.2021.05.014] [Reference Citation Analysis]
182 May HJ, Fasheun JA, Bain JM, Baugh EH, Bier LE, Revah-Politi A, Roye DP Jr, Goldstein DB, Carmel JB; New York Presbyterian Hospital/Columbia University Irving Medical Center Genomics Team. Genetic testing in individuals with cerebral palsy. Dev Med Child Neurol 2021. [PMID: 34114234 DOI: 10.1111/dmcn.14948] [Reference Citation Analysis]
183 Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, Dornbos P, Koesterer R, Zappala Z, Zhang H, Maloney KA, Dahl A, Aguilar-Salinas CA, Atzmon G, Barajas-Olmos F, Barzilai N, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Centeno-Cruz F, Chambers JC, Chami N, Chan E, Chan J, Cheng CY, Cho YS, Contreras-Cubas C, Córdova E, Correa A, DeFronzo RA, Duggirala R, Dupuis J, Garay-Sevilla ME, García-Ortiz H, Gieger C, Glaser B, González-Villalpando C, Gonzalez ME, Grarup N, Groop L, Gross M, Haiman C, Han S, Hanis CL, Hansen T, Heard-Costa NL, Henderson BE, Hernandez JMM, Hwang MY, Islas-Andrade S, Jørgensen ME, Kang HM, Kim BJ, Kim YJ, Koistinen HA, Kooner JS, Kuusisto J, Kwak SH, Laakso M, Lange L, Lee JY, Lee J, Lehman DM, Linneberg A, Liu J, Loos RJF, Lyssenko V, Ma RCW, Martínez-Hernández A, Meigs JB, Meitinger T, Mendoza-Caamal E, Mohlke KL, Morris AD, Morrison AC, Ng MCY, Nilsson PM, O'Donnell CJ, Orozco L, Palmer CNA, Park KS, Post WS, Pedersen O, Preuss M, Psaty BM, Reiner AP, Revilla-Monsalve C, Rich SS, Rotter JI, Saleheen D, Schurmann C, Sim X, Sladek R, Small KS, So WY, Spector TD, Strauch K, Strom TM, Tai ES, Tam CHT, Teo YY, Thameem F, Tomlinson B, Tracy RP, Tuomi T, Tuomilehto J, Tusié-Luna T, van Dam RM, Vasan RS, Wilson JG, Witte DR, Wong TY, Burtt NP, Zaitlen N, McCarthy MI, Boehnke M, Pollin TI, Flannick J, Mercader JM, O'Donnell-Luria A, Baxter S, Florez JC, MacArthur DG, Udler MS; AMP-T2D-GENES Consortia. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun 2021;12:3505. [PMID: 34108472 DOI: 10.1038/s41467-021-23556-4] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
184 Uitto J, Saeidian AH, Youssefian L, Vahidnezhad H. Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians. J Am Acad Dermatol 2021:S0190-9622(21)01114-2. [PMID: 34118299 DOI: 10.1016/j.jaad.2021.06.013] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
185 Myserlis P, Radmanesh F, Anderson CD. Translational Genomics in Neurocritical Care: a Review. Neurotherapeutics 2020;17:563-80. [PMID: 32080794 DOI: 10.1007/s13311-020-00838-1] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
186 Byrjalsen A, Diets IJ, Bakhuizen J, Hansen TVO, Schmiegelow K, Gerdes AM, Stoltze U, Kuiper RP, Merks JHM, Wadt K, Jongmans M. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel. Fam Cancer 2021. [PMID: 34061292 DOI: 10.1007/s10689-021-00254-0] [Reference Citation Analysis]
187 Swanson K, Sparks TN, Lianoglou BR, Chen F, Downum S, Patel S, Rego S, Yip T, Van Ziffle J, Koenig BA, Slavotinek AM, Norton ME. Preference for secondary findings in prenatal and pediatric exome sequencing. Prenat Diagn 2021. [PMID: 34057224 DOI: 10.1002/pd.5973] [Reference Citation Analysis]
188 Imafidon ME, Sikkema-Raddatz B, Abbott KM, Meems-Veldhuis MT, Swertz MA, van der Velde KJ, Beunders G, Bos DK, Knoers NVAM, Kerstjens-Frederikse WS, van Diemen CC. Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital. Front Pediatr 2021;9:600556. [PMID: 34136434 DOI: 10.3389/fped.2021.600556] [Reference Citation Analysis]
189 Arslan Ateş E, Türkyilmaz A, Yıldırım Ö, Alavanda C, Polat H, Demir Ş, Çebi AH, Geçkinli BB, Güney Aİ, Ata P, Arman A. Secondary findings in 622 Turkish clinical exome sequencing data. J Hum Genet 2021. [PMID: 34050257 DOI: 10.1038/s10038-021-00936-8] [Reference Citation Analysis]
190 Taylor A, Alloub Z, Tayoun AA. A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting. Genes (Basel) 2021;12:818. [PMID: 34071827 DOI: 10.3390/genes12060818] [Reference Citation Analysis]
191 Dockery A, Whelan L, Humphries P, Farrar GJ. Next-Generation Sequencing Applications for Inherited Retinal Diseases. Int J Mol Sci 2021;22:5684. [PMID: 34073611 DOI: 10.3390/ijms22115684] [Reference Citation Analysis]
192 Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, Kovac J, Groselj U, Tesovnik T, Battelino T, Debeljak M. Next-Generation Sequencing in Newborn Screening: A Review of Current State. Front Genet 2021;12:662254. [PMID: 34122514 DOI: 10.3389/fgene.2021.662254] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
193 Dong F, Xiao F, Ge T, Li X, Xu W, Wu S, Zhang T, Wang Y. Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease. Front Pediatr 2021;9:678390. [PMID: 34113591 DOI: 10.3389/fped.2021.678390] [Reference Citation Analysis]
194 Bartley N, Davies G, Butow P, Napier CE, Schlub T, Ballinger ML, Thomas DM, Juraskova I, Meiser B, Best MC. Fear of cancer recurrence in patients undergoing germline genome sequencing. Support Care Cancer 2021. [PMID: 34036439 DOI: 10.1007/s00520-021-06311-9] [Reference Citation Analysis]
195 Soumaré A, Beguedou N, Laurent A, Brochet B, Bordes C, Mournet S, Mellet E, Pereira E, Pollet C, Lachaize M, Mougin M, Tsuchida A, Loiseau H, Tourdias T, Tzourio C, Mazoyer B, Debette S. Prevalence, Severity, and Clinical Management of Brain Incidental Findings in Healthy Young Adults: MRi-Share Cross-Sectional Study. Front Neurol 2021;12:675244. [PMID: 34093421 DOI: 10.3389/fneur.2021.675244] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
196 Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, Chung WK, Gollob MH, Harrison SM, Herman GE, Hershberger RE, Klein TE, McKelvey K, Richards CS, Vlangos CN, Stewart DR, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1391-8. [PMID: 34012069 DOI: 10.1038/s41436-021-01171-4] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 9.0] [Reference Citation Analysis]
197 Kikuchi J, Ohhara Y, Takada K, Tanabe H, Hatanaka K, Amano T, C Hatanaka K, Hatanaka Y, Mitamura T, Kato M, Shibata Y, Yabe I, Endoh A, Komatsu Y, Matsuno Y, Sugiyama M, Manabe A, Sakurai A, Takahashi M, Naruse H, Torimoto Y, Dosaka-Akita H, Kinoshita I. Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan. Jpn J Clin Oncol 2021;51:753-61. [PMID: 33532831 DOI: 10.1093/jjco/hyaa277] [Reference Citation Analysis]
198 Azizi G, Tavakol M, Yazdani R, Delavari S, Moeini Shad T, Rasouli SE, Jamee M, Pashangzadeh S, Kalantari A, Shariat M, Shafiei A, Mohammadi J, Hassanpour G, Chavoshzadeh Z, Mahdaviani SA, Momen T, Behniafard N, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Shirkani A, Alyasin S, Jabbari-Azad F, Ghaffari J, Mesdaghi M, Ahanchian H, Khoshkhui M, Eslamian MH, Cheraghi T, Dabbaghzadeh A, Nasiri Kalmarzi R, Esmaeilzadeh H, Tafaroji J, Khalili A, Sadeghi-Shabestari M, Darougar S, Moghtaderi M, Ahmadiafshar A, Shakerian B, Heidarzadeh M, Ghalebaghi B, Fathi SM, Darabi B, Fallahpour M, Mohsenzadeh A, Ebrahimi S, Sharafian S, Vosughimotlagh A, Tafakoridelbari M, Rahimi Haji-Abadi M, Ashournia P, Razaghian A, Rezaei A, Salami F, Shirmast P, Bazargan N, Mamishi S, Khazaei HA, Negahdari B, Shokri S, Nabavizadeh SH, Bazregari S, Ghasemi R, Bayat S, Eshaghi H, Rezaei N, Abolhassani H, Aghamohammadi A. Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity. Pediatr Allergy Immunol 2021;32:1335-48. [PMID: 33774840 DOI: 10.1111/pai.13510] [Reference Citation Analysis]
199 Sakurai-Yageta M, Kumada K, Gocho C, Makino S, Uruno A, Tadaka S, Motoike IN, Kimura M, Ito S, Otsuki A, Narita A, Kudo H, Aoki Y, Danjoh I, Yasuda J, Kawame H, Minegishi N, Koshiba S, Fuse N, Tamiya G, Yamamoto M, Kinoshita K. Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. J Biochem 2021:mvab060. [PMID: 34131746 DOI: 10.1093/jb/mvab060] [Reference Citation Analysis]
200 Vears DF. Should we respect parents' views about which results to return from genomic sequencing? Hum Genet 2021. [PMID: 33987713 DOI: 10.1007/s00439-021-02293-0] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
201 Brockman DG, Austin-Tse CA, Pelletier RC, Harley C, Patterson C, Head H, Leonard CE, O'Brien K, Mahanta LM, Lebo MS, Lu CY, Natarajan P, Khera AV, Aragam KG, Kathiresan S, Rehm HL, Udler MS. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test. Genet Med 2021. [PMID: 33976420 DOI: 10.1038/s41436-021-01193-y] [Reference Citation Analysis]
202 Morris HR, Houlden H, Polke J. Whole-genome sequencing. Pract Neurol 2021:practneurol-2020-002561. [PMID: 33972362 DOI: 10.1136/practneurol-2020-002561] [Reference Citation Analysis]
203 Khan SS, Hoell C, Castillo LM, Connolly JJ, Crosslin DR, Chung WK, Gordon AS, Harr M, Jarvik GP, Kullo I, Larson EB, Leppig KA, Manolio T, Pacheco JA, Ralston JD, Puckelwartz MJ, Smith ME, Wells Q, McNally EM, Rasmussen-Torvik LJ. Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network. Circ Heart Fail 2021;14:e008155. [PMID: 33951936 DOI: 10.1161/CIRCHEARTFAILURE.120.008155] [Reference Citation Analysis]
204 Castleman JS, Wall E, Allen S, Williams D, Doyle S, Kilby MD. The prenatal exome - a door to prenatal diagnostics? Expert Rev Mol Diagn 2021;21:465-74. [PMID: 33877000 DOI: 10.1080/14737159.2021.1920398] [Reference Citation Analysis]
205 Morrish AM, Smith J, Enriquez A, Sholler GF, Mervis J, Dunwoodie SL, Kirk EP, Winlaw DS, Blue GM. A new era of genetic testing in congenital heart disease: A review. Trends Cardiovasc Med 2021:S1050-1738(21)00055-4. [PMID: 33964404 DOI: 10.1016/j.tcm.2021.04.011] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
206 Zhu J, Stephenson KAJ, Farrar GJ, Turner J, O'Byrne JJ, Keegan D. Management of significant secondary genetic findings in an ophthalmic genetics clinic. Eye (Lond) 2021. [PMID: 33941876 DOI: 10.1038/s41433-021-01557-3] [Reference Citation Analysis]
207 Miller CL, Kontorovich AR, Hao K, Ma L, Iyegbe C, Björkegren JLM, Kovacic JC. Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5. J Am Coll Cardiol 2021;77:2531-50. [PMID: 34016266 DOI: 10.1016/j.jacc.2021.04.001] [Reference Citation Analysis]
208 Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O'Daniel J, Rehm H, Shashi V, Vincent LM; ACMG Laboratory Quality Assurance Committee. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1399-415. [PMID: 33927380 DOI: 10.1038/s41436-021-01139-4] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
209 Rini C, Roche MI, Lin FC, Foreman AKM, Khan CM, Griesemer I, Waltz M, Lee K, O'Daniel JM, Evans JP, Berg JS, Henderson GE. Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial. Patient Educ Couns 2021:S0738-3991(21)00291-3. [PMID: 33966955 DOI: 10.1016/j.pec.2021.04.026] [Reference Citation Analysis]
210 Hallquist MLG, Tricou EP, Ormond KE, Savatt JM, Coughlin CR 2nd, Faucett WA, Hercher L, Levy HP, O'Daniel JM, Peay HL, Stosic M, Smith M, Uhlmann WR, Wand H, Wain KE, Buchanan AH. Application of a framework to guide genetic testing communication across clinical indications. Genome Med 2021;13:71. [PMID: 33926532 DOI: 10.1186/s13073-021-00887-x] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
211 Zacher P, Mayer T, Brandhoff F, Bartolomaeus T, Le Duc D, Finzel M, Heinze A, Horn S, Klöckner C, Körber G, Hentschel J, Kalita M, Krey I, Nastainczyk-Wulf M, Platzer K, Rebstock J, Popp B, Stiller M, Teichmann AC, Jamra RA, Lemke JR. The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals. Genet Med 2021;23:1492-7. [PMID: 33911214 DOI: 10.1038/s41436-021-01153-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
212 Bar-Mashiah A, Soper ER, Cullina S, Belbin GM, Kenny EE, Lucas AL, Abul-Husn NS. CDH1 pathogenic variants and cancer risk in an unselected patient population. Fam Cancer 2021. [PMID: 33886068 DOI: 10.1007/s10689-021-00257-x] [Reference Citation Analysis]
213 Bartley N, Napier CE, Butt Z, Schlub TE, Best MC, Biesecker BB, Ballinger ML, Butow P. Cancer Patient Experience of Uncertainty While Waiting for Genome Sequencing Results. Front Psychol 2021;12:647502. [PMID: 33967906 DOI: 10.3389/fpsyg.2021.647502] [Reference Citation Analysis]
214 Shirdarreh M, Aziza O, Pezo RC, Jerzak KJ, Warner E. Patients' and Oncologists' Knowledge and Expectations Regarding Tumor Multigene Next-Generation Sequencing: A Narrative Review. Oncologist 2021;26:e1359-71. [PMID: 33823080 DOI: 10.1002/onco.13783] [Reference Citation Analysis]
215 Dragojlovic N, Kopac N, Borle K, Tandun R, Salmasi S, Ellis U, Birch P, Adam S, Friedman JM, Elliott AM, Lynd LD; GenCOUNSEL Study. Utilization and uptake of clinical genetics services in high-income countries: A scoping review. Health Policy 2021;125:877-87. [PMID: 33962789 DOI: 10.1016/j.healthpol.2021.04.010] [Reference Citation Analysis]
216 Sun Y, Liu F, Fan C, Wang Y, Song L, Fang Z, Han R, Wang Z, Wang X, Yang Z, Xu Z, Peng J, Shi C, Zhang H, Dong W, Huang H, Li Y, Le Y, Sun J, Peng Z. Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders. BMC Med Genomics 2021;14:102. [PMID: 33849535 DOI: 10.1186/s12920-021-00948-5] [Reference Citation Analysis]
217 Vears DF, Minion JT, Roberts SJ, Cummings J, Machirori M, Murtagh MJ. Views on genomic research result delivery methods and informed consent: a review. Per Med 2021;18:295-310. [PMID: 33822658 DOI: 10.2217/pme-2020-0139] [Reference Citation Analysis]
218 Lee C, Elsekaily O, Kochan DC, Alhalabi L, Faizee F, Sharp R, Lindor NM, Kullo IJ. Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing. Genet Med 2021;23:1192-201. [PMID: 33824501 DOI: 10.1038/s41436-021-01142-9] [Reference Citation Analysis]
219 Muthaffar OY. The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders. Balkan J Med Genet 2020;23:17-24. [PMID: 33816068 DOI: 10.2478/bjmg-2020-0028] [Reference Citation Analysis]
220 Kraft IL, Godley LA. Identifying potential germline variants from sequencing hematopoietic malignancies. Blood 2020;136:2498-506. [PMID: 33236764 DOI: 10.1182/blood.2020006910] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
221 Abicht A, Schön U, Laner A, Holinski-Feder E, Diebold I. Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling. Cardiovasc Diagn Ther 2021;11:637-49. [PMID: 33968641 DOI: 10.21037/cdt-20-585] [Reference Citation Analysis]
222 Favalli V, Tini G, Bonetti E, Vozza G, Guida A, Gandini S, Pelicci PG, Mazzarella L. Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm. Am J Hum Genet 2021;108:682-95. [PMID: 33761318 DOI: 10.1016/j.ajhg.2021.03.010] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 5.0] [Reference Citation Analysis]
223 Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R, Amato AA, Gregory A, Hayflick SJ, Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS; SYNaPS Study Group., Queen Square Genomics. Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Ann Neurol 2021;89:1240-7. [PMID: 33704825 DOI: 10.1002/ana.26063] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
224 Povysil G, Chazara O, Carss KJ, Deevi SVV, Wang Q, Armisen J, Paul DS, Granger CB, Kjekshus J, Aggarwal V, Haefliger C, Goldstein DB. Assessing the Role of Rare Genetic Variation in Patients With Heart Failure. JAMA Cardiol 2021;6:379-86. [PMID: 33326012 DOI: 10.1001/jamacardio.2020.6500] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 7.0] [Reference Citation Analysis]
225 McNally EM, O'Donnell CJ. Genetic Contribution to Common Heart Failure-Not So Rare? JAMA Cardiol 2021;6:387. [PMID: 33325982 DOI: 10.1001/jamacardio.2020.6508] [Reference Citation Analysis]
226 Schwartz MLB, Buchanan AH, Hallquist MLG, Haggerty CM, Sturm AC. Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first. J Genet Couns 2021;30:634-44. [PMID: 33786929 DOI: 10.1002/jgc4.1386] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
227 Beauvais MJS, Thorogood AM, Szego MJ, Sénécal K, Zawati MH, Knoppers BM. Parental Access to Children's Raw Genomic Data in Canada: Legal Rights and Professional Responsibility. Front Genet 2021;12:535340. [PMID: 33868358 DOI: 10.3389/fgene.2021.535340] [Reference Citation Analysis]
228 Bartley N, Best M, Butow P. Pursuing germline genome sequencing to reduce illness uncertainty may involve additional uncertainties for cancer patients: A mixed-methods study. J Genet Couns 2021;30:1143-55. [PMID: 33786948 DOI: 10.1002/jgc4.1398] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
229 Bean LJH, Scheuner MT, Murray MF, Biesecker LG, Green RC, Monaghan KG, Palomaki GE, Sharp RR, Trotter TL, Watson MS, Powell CM; ACMG Board of Directors. DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:979-88. [PMID: 33790423 DOI: 10.1038/s41436-020-01083-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
230 Daly MB. Navigating the Intersection between Genomic Research and Clinical Practice. Cancer Prev Res (Phila) 2020;13:219-22. [PMID: 32132115 DOI: 10.1158/1940-6207.CAPR-19-0267] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
231 Sebastian A, Carroll JC, Vanstone M, Clausen M, Kodida R, Reble E, Mighton C, Shickh S, Aronson M, Eisen A, Elser C, Lerner-Ellis J, Kim RH, Bombard Y. Widening the lens of actionability: A qualitative study of primary care providers' views and experiences of managing secondary genomic findings. Eur J Hum Genet 2021. [PMID: 33776058 DOI: 10.1038/s41431-021-00876-z] [Reference Citation Analysis]
232 Kraft IL, Godley LA. Identifying potential germline variants from sequencing hematopoietic malignancies. Hematology Am Soc Hematol Educ Program 2020;2020:219-27. [PMID: 33275754 DOI: 10.1182/hematology.2020006910] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
233 Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility. Genet Med 2021;23:1288-95. [PMID: 33767344 DOI: 10.1038/s41436-021-01125-w] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
234 Maya I, Basel-Salmon L, Sagi-Dain L. Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions. Eur J Hum Genet 2021;29:1292-300. [PMID: 33753912 DOI: 10.1038/s41431-021-00856-3] [Reference Citation Analysis]
235 Nambot S, Sawka C, Bertolone G, Cosset E, Goussot V, Derangère V, Boidot R, Baurand A, Robert M, Coutant C, Loustalot C, Thauvin-Robinet C, Ghiringhelli F, Lançon A, Populaire C, Damette A, Collonge-Rame MA, Meunier-Beillard N, Lejeune C, Albuisson J, Faivre L. Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and impact on patients. Eur J Med Genet 2021;64:104196. [PMID: 33753322 DOI: 10.1016/j.ejmg.2021.104196] [Reference Citation Analysis]
236 Murray MF, Giovanni MA, Doyle DL, Harrison SM, Lyon E, Manickam K, Monaghan KG, Rasmussen SA, Scheuner MT, Palomaki GE, Watson MS; ACMG Board of Directors. DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:989-95. [PMID: 33727704 DOI: 10.1038/s41436-020-01082-w] [Cited by in Crossref: 6] [Cited by in F6Publishing: 1] [Article Influence: 6.0] [Reference Citation Analysis]
237 Fridman H, Bormans C, Einhorn M, Au D, Bormans A, Porat Y, Sanchez LF, Manning B, Levy-Lahad E, Behar DM. Performance comparison: exome sequencing as a single test replacing Sanger sequencing. Mol Genet Genomics 2021;296:653-63. [PMID: 33694043 DOI: 10.1007/s00438-021-01772-3] [Reference Citation Analysis]
238 Wolf SM, Ossorio PN, Berry SA, Greely HT, McGuire AL, Penny MA, Terry SF; LawSeq Framework Task Force. Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics. J Law Med Ethics 2020;48:69-86. [PMID: 32342790 DOI: 10.1177/1073110520916996] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 7.0] [Reference Citation Analysis]
239 Christensen KD, Bell M, Zawatsky CLB, Galbraith LN, Green RC, Hutchinson AM, Jamal L, LeBlanc JL, Leonhard JR, Moore M, Mullineaux L, Petry N, Platt DM, Shaaban S, Schultz A, Tucker BD, Van Heukelom J, Wheeler E, Zoltick ES, Hajek C; Imagenetics Metrics Team. Precision Population Medicine in Primary Care: The Sanford Chip Experience. Front Genet 2021;12:626845. [PMID: 33777099 DOI: 10.3389/fgene.2021.626845] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
240 Evans BJ, Javitt G, Hall R, Robertson M, Ossorio P, Wolf SM, Morgan T, Clayton EW; LawSeq Quality Task Force. How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care? J Law Med Ethics 2020;48:44-68. [PMID: 32342785 DOI: 10.1177/1073110520916995] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
241 Tolezano GC, da Costa SS, Scliar MO, Fernandes WLM, Otto PA, Bertola DR, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication. Int J Mol Cell Med 2020;9:296-306. [PMID: 33688487 DOI: 10.22088/IJMCM.BUMS.9.4.296] [Reference Citation Analysis]
242 Mwaka ES, Sebatta DE, Ochieng J, Munabi IG, Bagenda G, Ainembabazi D, Kaawa-Mafigiri D. Researchers' perspectives on return of individual genetics results to research participants: a qualitative study. Glob Bioeth 2021;32:15-33. [PMID: 33762814 DOI: 10.1080/11287462.2021.1896453] [Reference Citation Analysis]
243 Aguilar M, Zhang H, Zhang M, Cantarell B, Sahoo SS, Li HD, Cuevas IC, Lea J, Miller DS, Chen H, Zheng W, Gagan J, Lucas E, Castrillon DH. Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors. J Pathol 2021;254:20-30. [PMID: 33506979 DOI: 10.1002/path.5628] [Reference Citation Analysis]
244 Corpas M, Megy K, Mistry V, Metastasio A, Lehmann E. Whole Genome Interpretation for a Family of Five. Front Genet 2021;12:535123. [PMID: 33763108 DOI: 10.3389/fgene.2021.535123] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
245 Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saitsu H. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing. Clin Genet 2021;100:40-50. [PMID: 33644862 DOI: 10.1111/cge.13951] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
246 Carruth ED, Beer D, Alsaid A, Schwartz MLB, McMinn M, Kelly MA, Buchanan AH, Nevius CD, Calkins H, James CA, Murray B, Tichnell C, Matsumura ME, Kirchner HL, Fornwalt BK, Sturm AC, Haggerty CM. Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants. Circ Genom Precis Med 2021;14:e003302. [PMID: 33684294 DOI: 10.1161/CIRCGEN.120.003302] [Reference Citation Analysis]
247 Zhou J, Yang Z, Sun J, Liu L, Zhou X, Liu F, Xing Y, Cui S, Xiong S, Liu X, Yang Y, Wei X, Zou G, Wang Z, Wei X, Wang Y, Zhang Y, Yan S, Wu F, Zeng F, Wang J, Duan T, Peng Z, Sun L. Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing. Genes (Basel) 2021;12:376. [PMID: 33800913 DOI: 10.3390/genes12030376] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
248 Hay E, Cullup T, Barnicoat A. A practical approach to the genomics of kidney disorders. Pediatr Nephrol 2021. [PMID: 33675412 DOI: 10.1007/s00467-021-04995-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
249 Kilby MD. The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies. BJOG 2021;128:420-9. [PMID: 32975887 DOI: 10.1111/1471-0528.16533] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
250 Shickh S, Rafferty SA, Clausen M, Kodida R, Mighton C, Panchal S, Lorentz J, Ward T, Watkins N, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Lerner-Ellis J, Kim RH, Chitayat D, Shuman C, Bombard Y; Incidental Genomics Study Team. The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care. Genet Med 2021;23:1086-94. [PMID: 33654192 DOI: 10.1038/s41436-021-01112-1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
251 Denny JC, Collins FS. Precision medicine in 2030-seven ways to transform healthcare. Cell 2021;184:1415-9. [PMID: 33740447 DOI: 10.1016/j.cell.2021.01.015] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 13.0] [Reference Citation Analysis]
252 Jiang H, Hooper C, Kelly M, Steeples V, Simon JN, Beglov J, Azad AJ, Leinhos L, Bennett P, Ehler E, Kalisch-Smith JI, Sparrow DB, Fischer R, Heilig R, Isackson H, Ehsan M, Patone G, Huebner N, Davies B, Watkins H, Gehmlich K. Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant. Basic Res Cardiol 2021;116:14. [PMID: 33637999 DOI: 10.1007/s00395-021-00853-z] [Reference Citation Analysis]
253 Gomez K. Genomic Analysis for the Detection of Bleeding and Thrombotic Disorders. Semin Thromb Hemost 2021;47:174-82. [PMID: 33636748 DOI: 10.1055/s-0041-1722865] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
254 Schoot VV, Viellevoije SJ, Tammer F, Brunner HG, Arens Y, Yntema HG, Oerlemans AJM. The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study. Eur J Hum Genet 2021;29:930-9. [PMID: 33637888 DOI: 10.1038/s41431-021-00834-9] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
255 Salo-Mullen EE, Maio A, Mukherjee S, Bandlamudi C, Shia J, Kemel Y, Cadoo KA, Liu Y, Carlo M, Ranganathan M, Kane S, Srinivasan P, Chavan SS, Donoghue MTA, Bourque C, Sheehan M, Tejada PR, Patel Z, Arnold AG, Kennedy JA, Amoroso K, Breen K, Catchings A, Sacca R, Marcell V, Markowitz AJ, Latham A, Walsh M, Misyura M, Ceyhan-Birsoy O, Solit DB, Berger MF, Robson ME, Taylor BS, Offit K, Mandelker D, Stadler ZK. Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population. JCO Precis Oncol 2021;5:PO. [PMID: 34250384 DOI: 10.1200/PO.20.00443] [Reference Citation Analysis]
256 Woudstra A, Dondorp W, de Wert G. Stakeholder views on opportunistic genomic screening in the Netherlands: a qualitative study. Eur J Hum Genet 2021;29:949-56. [PMID: 33619333 DOI: 10.1038/s41431-021-00828-7] [Reference Citation Analysis]
257 Ülgen E, Can Ö, Bilguvar K, Akyerli Boylu C, Kılıçturgay Yüksel Ş, Erşen Danyeli A, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K. Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma. BMC Med Genomics 2021;14:54. [PMID: 33622343 DOI: 10.1186/s12920-021-00904-3] [Reference Citation Analysis]
258 Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front Pediatr 2021;9:526779. [PMID: 33681094 DOI: 10.3389/fped.2021.526779] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 9.0] [Reference Citation Analysis]
259 Hong KN, Brambatti M, John S, Bui QM, Rigolli M, Taylor M, Adler ED. Recommendations and guidance on the diagnosis and management of Danon disease. Expert Opinion on Orphan Drugs 2021;9:25-33. [DOI: 10.1080/21678707.2021.1882994] [Reference Citation Analysis]
260 Chad L, Szego MJ. Please give me a copy of my child's raw genomic data. NPJ Genom Med 2021;6:15. [PMID: 33597540 DOI: 10.1038/s41525-021-00175-y] [Reference Citation Analysis]
261 Mone F, McMullan DJ, Williams D, Chitty LS, Maher ER, Kilby MD; Fetal Genomics Steering Group of the British Society for Genetic Medicine., Royal College of Obstetricians and Gynaecologists. Evidence to Support the Clinical Utility of Prenatal Exome Sequencing in Evaluation of the Fetus with Congenital Anomalies: Scientific Impact Paper No. 64 [February] 2021. BJOG 2021;128:e39-50. [PMID: 33590639 DOI: 10.1111/1471-0528.16616] [Reference Citation Analysis]
262 Kelly MA, Leader JB, Wain KE, Bodian D, Oetjens MT, Ledbetter DH, Martin CL, Strande NT. Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project. Am J Med Genet C Semin Med Genet 2021;187:83-94. [PMID: 33576083 DOI: 10.1002/ajmg.c.31887] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
263 Alkuraya FS. How the human genome transformed study of rare diseases. Nature 2021;590:218-9. [PMID: 33568830 DOI: 10.1038/d41586-021-00294-7] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
264 Ripperger T, Evans DG, Malkin D, Kratz CP. Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer. Fam Cancer 2021. [PMID: 33576909 DOI: 10.1007/s10689-021-00228-2] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
265 Butz H, Blair J, Patócs A. Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes. Endocrine 2021;71:641-52. [PMID: 33570725 DOI: 10.1007/s12020-021-02636-x] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
266 Sachdev R, Field M, Baynam GS, Beilby J, Berarducci M, Berman Y, Boughtwood T, Cusack MB, Fitzgerald V, Fletcher J, Freckmann ML, Grainger N, Kirk E, Lundie B, Lunke S, McGregor L, Mowat D, Parasivam G, Tyrell V, Wallis M, White SM, S L Ma A. Paediatric genomic testing: Navigating medicare rebatable genomic testing. J Paediatr Child Health 2021;57:477-83. [PMID: 33566436 DOI: 10.1111/jpc.15382] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
267 Kurian AW, Ward KC, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Morrow M, Berek JS, Hofer TP, Katz SJ. Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019. J Clin Oncol 2021;39:1631-40. [PMID: 33560870 DOI: 10.1200/JCO.20.02785] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
268 Fathalla BM, Alsarhan A, Afzal S, El Naofal M, Abou Tayoun A. The genomic landscape of pediatric rheumatology disorders in the Middle East. Hum Mutat 2021;42:e1-e14. [PMID: 33440462 DOI: 10.1002/humu.24165] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
269 Abul-Husn NS, Soper ER, Braganza GT, Rodriguez JE, Zeid N, Cullina S, Bobo D, Moscati A, Merkelson A, Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE. Implementing genomic screening in diverse populations. Genome Med 2021;13:17. [PMID: 33546753 DOI: 10.1186/s13073-021-00832-y] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
270 Birolo G, Aneli S, Di Gaetano C, Cugliari G, Russo A, Allione A, Casalone E, Giorgio E, Paraboschi EM, Ardissino D, Duga S, Asselta R, Matullo G. Functional and clinical implications of genetic structure in 1686 Italian exomes. Hum Mutat 2021;42:272-89. [PMID: 33326653 DOI: 10.1002/humu.24156] [Reference Citation Analysis]
271 Guadagnolo D, Mastromoro G, Di Palma F, Pizzuti A, Marchionni E. Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review. Diagnostics (Basel) 2021;11:224. [PMID: 33540854 DOI: 10.3390/diagnostics11020224] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
272 Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana J, Fieschi C, Galicier L, Hermine O, Lefèvre-utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay J, Kracker S, Lagresle-peyrou C, Latour S, Rieux-laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing. Journal of Allergy and Clinical Immunology 2021;147:734-7. [DOI: 10.1016/j.jaci.2020.05.046] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
273 Mirshahi UL, Kim J, Best AF, Chen ZE, Hu Y, Haley JS, Golden A, Stahl R, Manickam K, Carr AG, Harney LA, Field A, Hatton J, Schultz KAP, Bauer AJ, Hill DA, Rosenberg PS, Murray MF, Carey DJ, Stewart DR. A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype. JAMA Netw Open 2021;4:e210112. [PMID: 33630087 DOI: 10.1001/jamanetworkopen.2021.0112] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
274 Pacyna JE, Shaibi GQ, Lee A, Byrne JO, Cuellar I, Sutton EJ, Hernandez V, Lindor NM, Singh D, Kullo IJ, Sharp RR. Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening. Genet Med 2021;23:934-41. [PMID: 33500569 DOI: 10.1038/s41436-020-01079-5] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
275 Khanduri S, Khan N, Malik S, Katara S, Fatima M. Von Hippel-Lindau Disease: A Rare Radiological Case Report of a Symptomatic Patient and His Asymptomatic Genetic Counterpart. Cureus 2021;13:e12925. [PMID: 33654607 DOI: 10.7759/cureus.12925] [Reference Citation Analysis]
276 Howe KL, Achuthan P, Allen J, Allen J, Alvarez-Jarreta J, Amode MR, Armean IM, Azov AG, Bennett R, Bhai J, Billis K, Boddu S, Charkhchi M, Cummins C, Da Rin Fioretto L, Davidson C, Dodiya K, El Houdaigui B, Fatima R, Gall A, Garcia Giron C, Grego T, Guijarro-Clarke C, Haggerty L, Hemrom A, Hourlier T, Izuogu OG, Juettemann T, Kaikala V, Kay M, Lavidas I, Le T, Lemos D, Gonzalez Martinez J, Marugán JC, Maurel T, McMahon AC, Mohanan S, Moore B, Muffato M, Oheh DN, Paraschas D, Parker A, Parton A, Prosovetskaia I, Sakthivel MP, Salam AIA, Schmitt BM, Schuilenburg H, Sheppard D, Steed E, Szpak M, Szuba M, Taylor K, Thormann A, Threadgold G, Walts B, Winterbottom A, Chakiachvili M, Chaubal A, De Silva N, Flint B, Frankish A, Hunt SE, IIsley GR, Langridge N, Loveland JE, Martin FJ, Mudge JM, Morales J, Perry E, Ruffier M, Tate J, Thybert D, Trevanion SJ, Cunningham F, Yates AD, Zerbino DR, Flicek P. Ensembl 2021. Nucleic Acids Res 2021;49:D884-91. [PMID: 33137190 DOI: 10.1093/nar/gkaa942] [Cited by in Crossref: 66] [Cited by in F6Publishing: 60] [Article Influence: 66.0] [Reference Citation Analysis]
277 Yogasundaram H, Alhumaid W, Dzwiniel T, Christian S, Oudit GY. Cardiomyopathies and Genetic Testing in Heart Failure: Role in Defining Phenotype-Targeted Approaches and Management. Can J Cardiol. 2021;. [PMID: 33493662 DOI: 10.1016/j.cjca.2021.01.016] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
278 Abdulrahim JW, Kwee LC, Alenezi F, Sun AY, Baras A, Ajayi TA, Henao R, Holley CL, McGarrah RW, Daubert JP, Truby LK, Vemulapalli S, Wang A, Khouri MG, Shah SH. Identification of Undetected Monogenic Cardiovascular Disorders. J Am Coll Cardiol 2020;76:797-808. [PMID: 32792077 DOI: 10.1016/j.jacc.2020.06.037] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
279 Vinkšel M, Writzl K, Maver A, Peterlin B. Improving diagnostics of rare genetic diseases with NGS approaches. J Community Genet 2021;12:247-56. [PMID: 33452619 DOI: 10.1007/s12687-020-00500-5] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
280 Mann SP, Treit PV, Geyer PE, Omenn GS, Mann M. Ethical Principles, Constraints and Opportunities in Clinical Proteomics. Mol Cell Proteomics 2021;:100046. [PMID: 33453411 DOI: 10.1016/j.mcpro.2021.100046] [Cited by in Crossref: 3] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
281 Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children. Trials 2021;22:56. [PMID: 33446240 DOI: 10.1186/s13063-020-04953-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
282 Eghbali M, Fatemi KS, Salehpour S, Abiri M, Saei H, Talebi S, Olyaei NA, Yassaee VR, Modarressi MH. Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome. Front Genet 2020;11:601566. [PMID: 33505429 DOI: 10.3389/fgene.2020.601566] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
283 Kim J, Light N, Subasri V, Young EL, Wegman-Ostrosky T, Barkauskas DA, Hall D, Lupo PJ, Patidar R, Maese LD, Jones K, Wang M, Tavtigian SV, Wu D, Shlien A, Telfer F, Goldenberg A, Skapek SX, Wei JS, Wen X, Catchpoole D, Hawkins DS, Schiffman JD, Khan J, Malkin D, Stewart DR. Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma. JCO Precis Oncol 2021;5:PO. [PMID: 34095712 DOI: 10.1200/PO.20.00218] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
284 Finucane BM, Ledbetter DH, Vorstman JA. Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation. Curr Opin Genet Dev 2021;68:1-8. [PMID: 33434711 DOI: 10.1016/j.gde.2020.12.016] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
285 Clayton EW, Appelbaum PS, Chung WK, Marchant GE, Roberts JL, Evans BJ. Does the law require reinterpretation and return of revised genomic results? Genet Med 2021;23:833-6. [PMID: 33420344 DOI: 10.1038/s41436-020-01065-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
286 Atkins MB, Curiel-Lewandrowski C, Fisher DE, Swetter SM, Tsao H, Aguirre-Ghiso JA, Soengas MS, Weeraratna AT, Flaherty KT, Herlyn M, Sosman JA, Tawbi HA, Pavlick AC, Cassidy PB, Chandra S, Chapman PB, Daud A, Eroglu Z, Ferris LK, Fox BA, Gershenwald JE, Gibney GT, Grossman D, Hanks BA, Hanniford D, Hernando E, Jeter JM, Johnson DB, Khleif SN, Kirkwood JM, Leachman SA, Mays D, Nelson KC, Sondak VK, Sullivan RJ, Merlino G; Melanoma Research Foundation. The State of Melanoma: Emergent Challenges and Opportunities. Clin Cancer Res 2021;27:2678-97. [PMID: 33414132 DOI: 10.1158/1078-0432.CCR-20-4092] [Reference Citation Analysis]
287 Jia X, Burugula BB, Chen V, Lemons RM, Jayakody S, Maksutova M, Kitzman JO. Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk. Am J Hum Genet 2021;108:163-75. [PMID: 33357406 DOI: 10.1016/j.ajhg.2020.12.003] [Cited by in Crossref: 19] [Cited by in F6Publishing: 10] [Article Influence: 19.0] [Reference Citation Analysis]
288 Bylstra Y, Lim WK, Kam S, Tham KW, Wu RR, Teo JX, Davila S, Kuan JL, Chan SH, Bertin N, Yang CX, Rozen S, Teh BT, Yeo KK, Cook SA, Jamuar SS, Ginsburg GS, Orlando LA, Tan P. Family history assessment significantly enhances delivery of precision medicine in the genomics era. Genome Med 2021;13:3. [PMID: 33413596 DOI: 10.1186/s13073-020-00819-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
289 Rosenthal EA, Crosslin DR, Gordon AS, Carrell DS, Stanaway IB, Larson EB, Grafton J, Wei WQ, Denny JC, Feng QP, Shah AS, Sturm AC, Ritchie MD, Pacheco JA, Hakonarson H, Rasmussen-Torvik LJ, Connolly JJ, Fan X, Safarova M, Kullo IJ, Jarvik GP. Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort. BMC Med Genomics 2021;14:11. [PMID: 33407432 DOI: 10.1186/s12920-020-00854-2] [Reference Citation Analysis]
290 Jauregui R, Nuzbrokh Y, Su PY, Zernant J, Allikmets R, Tsang SH, Sparrow JR. Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence. Transl Vis Sci Technol 2021;10:3. [PMID: 33505770 DOI: 10.1167/tvst.10.1.3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
291 Dondorp W, Bolt I, Tibben A, De Wert G, Van Summeren M. 'We Should View Him as an Individual': The Role of the Child's Future Autonomy in Shared Decision-Making About Unsolicited Findings in Pediatric Exome Sequencing. Health Care Anal 2021;29:249-61. [PMID: 33389383 DOI: 10.1007/s10728-020-00425-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
292 Rolf B, Blue EE, Bucks S, Dorschner MO, Jayadev S. Genetic counseling for early onset and familial dementia: Patient perspectives on exome sequencing. J Genet Couns 2021;30:793-802. [PMID: 33393146 DOI: 10.1002/jgc4.1379] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
293 Di Resta C, Pipitone GB, Carrera P, Ferrari M. Current scenario of the genetic testing for rare neurological disorders exploiting next generation sequencing. Neural Regen Res 2021;16:475-81. [PMID: 32985468 DOI: 10.4103/1673-5374.293135] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
294 Blasimme A, Brall C, Vayena E. Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network. Front Genet 2020;11:585820. [PMID: 33362850 DOI: 10.3389/fgene.2020.585820] [Reference Citation Analysis]
295 Felicio PS, Grasel RS, Campacci N, de Paula AE, Galvão HCR, Torrezan GT, Sabato CS, Fernandes GC, Souza CP, Michelli RD, Andrade CE, Barros BDF, Matsushita MM, Revil T, Ragoussis J, Couch FJ, Hart SN, Reis RM, Melendez ME, Tonin PN, Carraro DM, Palmero EI. Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer. Hum Mutat 2021;42:290-9. [PMID: 33326660 DOI: 10.1002/humu.24158] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
296 Ghazani AA, Breen KM, Dwan M, Barletta JA, Vatnick DR, Stokes SM, Block C, Doherty GM, Cohn AY, Marqusee E, Garber JE, Rana HQ. Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma. Am J Case Rep 2020;21:e927415. [PMID: 33361738 DOI: 10.12659/AJCR.927415] [Reference Citation Analysis]
297 Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat 2021;42:223-36. [PMID: 33300245 DOI: 10.1002/humu.24152] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 5.5] [Reference Citation Analysis]
298 Dongerdiye R, Jagadeesh S, Suresh B, Rajendran A, Devendra R, Warang P, Kedar PS. Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family. J Clin Pathol 2020:jclinpath-2020-206960. [PMID: 33361148 DOI: 10.1136/jclinpath-2020-206960] [Reference Citation Analysis]
299 Tan L, Li Y, Liu F, Huang Y, Luo S, Zhao P, Gu W, Lin J, Zhou A, He X. A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene. Mol Genet Genomic Med 2021;9:e1582. [PMID: 33369188 DOI: 10.1002/mgg3.1582] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
300 Ahn H, Seo GH, Oh A, Lee Y, Keum C, Heo SH, Kim T, Choi J, Kim GH, Ko TS, Yum MS, Lee BH, Choi IH. Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia. Medicine (Baltimore) 2020;99:e23864. [PMID: 33371171 DOI: 10.1097/MD.0000000000023864] [Reference Citation Analysis]
301 Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, Mathiasen R, Lautrup CK, Gregersen PA, Hasle H, Wehner PS, Tuckuviene R, Sackett PW, Laspiur AO, Rossing M, Marvig RL, Tommerup N, Olsen TE, Scheie D, Gupta R, Gerdes AM, Schmiegelow K, Wadt K. Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. PLoS Genet 2020;16:e1009231. [PMID: 33332384 DOI: 10.1371/journal.pgen.1009231] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
302 Similuk MN, Yan J, Setzer MR, Jamal L, Littel P, Lenardo M, Su HC. Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict. J Genet Couns 2021;30:766-73. [PMID: 33320394 DOI: 10.1002/jgc4.1367] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
303 Love-Nichols J, Uhlmann WR, Arscott P, Willer C, Hornsby W, Roberts JS. A survey of aortic disease biorepository participants' preferences for return of research genetic results. J Genet Couns 2021;30:645-55. [PMID: 33319384 DOI: 10.1002/jgc4.1341] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
304 Nakanishi T, Forgetta V, Handa T, Hirai T, Mooser V, Lathrop GM, Cookson WOCM, Richards JB. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. Eur Respir J 2020;56:2001441. [PMID: 32675199 DOI: 10.1183/13993003.01441-2020] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
305 Snir M, Nazareth S, Simmons E, Hayward L, Ashcraft K, Bristow SL, Esplin ED, Aradhya S. Democratizing genomics: Leveraging software to make genetics an integral part of routine care. Am J Med Genet C Semin Med Genet 2021;187:14-27. [PMID: 33296144 DOI: 10.1002/ajmg.c.31866] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
306 Banes GL, Fountain ED, Karklus A, Huang HM, Jang-Liaw NH, Burgess DL, Wendt J, Moehlenkamp C, Mayhew GF. Genomic targets for high-resolution inference of kinship, ancestry and disease susceptibility in orang-utans (genus: Pongo). BMC Genomics 2020;21:873. [PMID: 33287706 DOI: 10.1186/s12864-020-07278-3] [Reference Citation Analysis]
307 Lambert MP. Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders. Hematology Am Soc Hematol Educ Program 2020;2020:76-81. [PMID: 33275718 DOI: 10.1182/hematology.2020000091] [Reference Citation Analysis]
308 van der Lee M, Kriek M, Guchelaar HJ, Swen JJ. Technologies for Pharmacogenomics: A Review. Genes (Basel) 2020;11:E1456. [PMID: 33291630 DOI: 10.3390/genes11121456] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
309 Biesecker LG, Dirksen RT, Girard T, Hopkins PM, Riazi S, Rosenberg H, Stowell K, Weber J. Genomic Screening for Malignant Hyperthermia Susceptibility. Anesthesiology 2020;133:1277-82. [PMID: 32898259 DOI: 10.1097/ALN.0000000000003547] [Cited by in Crossref: 4] [Article Influence: 2.0] [Reference Citation Analysis]
310 Quaio CRDC, Moreira CM, Novo‐filho GM, Sacramento‐bobotis PR, Groenner Penna M, Perazzio SF, Dutra AP, Silva RA, Santos MNP, Arruda VYN, Freitas VG, Pereira VC, Pintao MC, Fornari ARDS, Buzolin AL, Oku AY, Burger M, Ramalho RF, Marco Antonio DS, Ferreira EN, Pereira OJE, Cantagalli VD, Trindade ACG, Sousa RRF, Reys Furuzawa C, Verzini F, Matalhana SD, Romano N, Paixão D, Olivati C, Spolador GM, Maciel GAR, Rocha VZ, Miguelez J, Carvalho MHB, Souza AWS, Andrade LEC, Chauffaille MDL, Perazzio ADSB, Catelani ALPM, Mitne‐neto M, Kim CA, Baratela WADR. Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. Am J Med Genet 2020;184:955-64. [DOI: 10.1002/ajmg.c.31860] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 2.5] [Reference Citation Analysis]
311 Murray SL, Fennelly NK, Doyle B, Lynch SA, Conlon PJ. Integration of genetic and histopathology data in interpretation of kidney disease. Nephrol Dial Transplant 2020;35:1113-32. [PMID: 32777081 DOI: 10.1093/ndt/gfaa176] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
312 Veatch OJ, Butler MG, Elsea SH, Malow BA, Sutcliffe JS, Moore JH. An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. Int J Mol Sci 2020;21:E9029. [PMID: 33261099 DOI: 10.3390/ijms21239029] [Reference Citation Analysis]
313 East KM, Kelley WV, Cannon A, Cochran ME, Moss IP, May T, Nakano-Okuno M, Sodeke SO, Edberg JC, Cimino JJ, Fouad M, Curry WA, Hurst ACE, Bowling KM, Thompson ML, Bebin EM, Johnson RD, Cooper GM, Might M, Barsh GS, Korf BR; AGHI Consortium. A state-based approach to genomics for rare disease and population screening. Genet Med 2021;23:777-81. [PMID: 33244164 DOI: 10.1038/s41436-020-01034-4] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
314 Foss-Skiftesvik J, Hagen CM, Mathiasen R, Adamsen D, Bækvad-Hansen M, Børglum AD, Nordentoft M, Werge T, Christiansen M, Schmiegelow K, Juhler M, Mortensen PB, Hougaard DM, Bybjerg-Grauholm J. Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci. Childs Nerv Syst 2021;37:819-30. [PMID: 33226468 DOI: 10.1007/s00381-020-04946-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
315 Connell PS, Berkman AM, Souder BM, Pirozzi EJ, Lovin JJ, Rosenfeld JA, Liu P, Tunuguntla H, Allen HD, Denfield SW, Kim JJ, Landstrom AP. Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants. Circ Genom Precis Med 2021;14:e003131. [PMID: 33226272 DOI: 10.1161/CIRCGEN.120.003131] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
316 Yu MHC, Mak CCY, Fung JLF, Lee M, Tsang MHY, Chau JFT, Chung PH, Yang W, Chan GCF, Lee SL, Lau YL, Tam PKH, Tang CSM, Yeung KS, Chung BHY. Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data. J Hum Genet 2021;66:637-41. [PMID: 33223521 DOI: 10.1038/s10038-020-00875-w] [Reference Citation Analysis]
317 Spies G, Mokaya J, Steadman J, Schuitmaker N, Kidd M, Hemmings SMJ, Carr JA, Kuivaniemi H, Seedat S; SHARED ROOTS Group. Attitudes among South African university staff and students towards disclosing secondary genetic findings. J Community Genet 2021;12:171-84. [PMID: 33219499 DOI: 10.1007/s12687-020-00494-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
318 Kondo T, Matsubara J, Quy PN, Fukuyama K, Nomura M, Funakoshi T, Doi K, Sakamori Y, Yoshioka M, Yokoyama A, Tamaoki M, Kou T, Hirohashi K, Yamada A, Yamamoto Y, Minamiguchi S, Nishigaki M, Yamada T, Kanai M, Matsumoto S, Muto M. Comprehensive genomic profiling for patients with chemotherapy-naïve advanced cancer. Cancer Sci 2021;112:296-304. [PMID: 33007138 DOI: 10.1111/cas.14674] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
319 Vu M, Degeling K, Martyn M, Lynch E, Chong B, Gaff C, IJzerman MJ. Evaluating the resource implications of different service delivery models for offering additional genomic findings. Genet Med 2021;23:606-13. [PMID: 33214711 DOI: 10.1038/s41436-020-01030-8] [Reference Citation Analysis]
320 Botkin JR. Informed Consent for Genetic and Genomic Research. Curr Protoc Hum Genet 2020;108:e104. [PMID: 33202103 DOI: 10.1002/cphg.104] [Reference Citation Analysis]
321 Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C. Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data. Hum Reprod Update 2021;27:254-79. [PMID: 33197264 DOI: 10.1093/humupd/dmaa044] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
322 Prows CA, Marsolo K, Myers MF, Nix J, Hall ES. Adapting Clinical Systems to Enable Adolescents' Genomic Choices. ACI Open 2020;04:e126-31. [DOI: 10.1055/s-0040-1718747] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
323 Millo T, Douiev L, Popper D, Shkedi-Rafid S. Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult-onset findings from chromosomal-microarray-analysis. Prenat Diagn 2021;41:376-83. [PMID: 33128404 DOI: 10.1002/pd.5856] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
324 Ireland D, Bradford D, Szepe E, Lynch E, Martyn M, Hansen D, Gaff C. Introducing Edna: A trainee chatbot designed to support communication about additional (secondary) genomic findings. Patient Educ Couns 2021;104:739-49. [PMID: 33234441 DOI: 10.1016/j.pec.2020.11.007] [Reference Citation Analysis]
325 Koriath CAM, Kenny J, Ryan NS, Rohrer JD, Schott JM, Houlden H, Fox NC, Tabrizi SJ, Mead S. Genetic testing in dementia - utility and clinical strategies. Nat Rev Neurol 2021;17:23-36. [PMID: 33168964 DOI: 10.1038/s41582-020-00416-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
326 Tiller J, Trainer AH, Campbell I, Lacaze PA. Ethical and practical implications of returning genetic research results: two Australian case studies. Med J Aust 2021;214:259-262.e1. [PMID: 33161572 DOI: 10.5694/mja2.50842] [Reference Citation Analysis]
327 Gesbert C, Torregrosa C, Mamzer MF. [From incidentaloma to secondary discovery]. Med Sci (Paris) 2020;36:1054-8. [PMID: 33151867 DOI: 10.1051/medsci/2020188] [Reference Citation Analysis]
328 Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H, Jarvik GP; CSER Sequencing and Diagnostic Yield working group. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Am J Hum Genet 2020;107:932-41. [PMID: 33108757 DOI: 10.1016/j.ajhg.2020.09.011] [Cited by in Crossref: 21] [Cited by in F6Publishing: 12] [Article Influence: 10.5] [Reference Citation Analysis]
329 Godino L, Varesco L, Bruno W, Bruzzone C, Battistuzzi L, Franiuk M, Miccoli S, Bertonazzi B, Graziano C, Seri M, Turchetti D. Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing. J Genet Couns 2021;30:665-75. [PMID: 33142017 DOI: 10.1002/jgc4.1350] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
330 Streeten EA, See VY, Jeng LBJ, Maloney KA, Lynch M, Glazer AM, Yang T, Roden D, Pollin TI, Daue M, Ryan KA, Van Hout C, Gosalia N, Gonzaga-Jauregui C, Economides A, Perry JA, O'Connell J, Beitelshees A, Palmer K, Mitchell BD, Shuldiner AR; Regeneron Genetics Center*. KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine. Circ Genom Precis Med 2020;13:e003133. [PMID: 33141630 DOI: 10.1161/CIRCGEN.120.003133] [Reference Citation Analysis]
331 Schneider BP, Stout LA, Philips S, Schroeder C, Scott SF, Hunter C, Kassem N, Kiel PJ, Radovich M. Implications of Incidental Germline Findings Identified In the Context of Clinical Whole Exome Sequencing for Guiding Cancer Therapy. JCO Precis Oncol 2020;4:1109-21. [PMID: 35050776 DOI: 10.1200/PO.19.00354] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
332 Macnish K, van der Ham J. Ethics in cybersecurity research and practice. Technology in Society 2020;63:101382. [DOI: 10.1016/j.techsoc.2020.101382] [Cited by in Crossref: 11] [Cited by in F6Publishing: 4] [Article Influence: 5.5] [Reference Citation Analysis]
333 Vears DF, Elferink M, Kriek M, Borry P, van Gassen KL. Analysis of laboratory reporting practices using a quality assessment of a virtual patient. Genet Med 2021;23:562-70. [PMID: 33122805 DOI: 10.1038/s41436-020-01015-7] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
334 Baye JF, Petry NJ, Jacobson SL, Moore MM, Tucker B, Shaaban S, Massmann AK, Clark NM, Schultz AJ. Malignant hyperthermia susceptibility: utilization of genetic results in an electronic medical record to increase safety. Pharmacogenomics 2020;21:1207-15. [PMID: 33118445 DOI: 10.2217/pgs-2020-0088] [Reference Citation Analysis]
335 Hirsch S, Gieldon L, Sutter C, Dikow N, Schaaf CP. Germline testing for homologous recombination repair genes—opportunities and challenges. Genes Chromosomes Cancer 2021;60:332-43. [DOI: 10.1002/gcc.22900] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
336 Lu T, Zhou S, Wu H, Forgetta V, Greenwood CMT, Richards JB. Individuals with common diseases but with a low polygenic risk score could be prioritized for rare variant screening. Genet Med 2021;23:508-15. [PMID: 33110269 DOI: 10.1038/s41436-020-01007-7] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
337 Choudhury A, Aron S, Botigué LR, Sengupta D, Botha G, Bensellak T, Wells G, Kumuthini J, Shriner D, Fakim YJ, Ghoorah AW, Dareng E, Odia T, Falola O, Adebiyi E, Hazelhurst S, Mazandu G, Nyangiri OA, Mbiyavanga M, Benkahla A, Kassim SK, Mulder N, Adebamowo SN, Chimusa ER, Muzny D, Metcalf G, Gibbs RA, Rotimi C, Ramsay M, Adeyemo AA, Lombard Z, Hanchard NA; TrypanoGEN Research Group., H3Africa Consortium. High-depth African genomes inform human migration and health. Nature 2020;586:741-8. [PMID: 33116287 DOI: 10.1038/s41586-020-2859-7] [Cited by in Crossref: 44] [Cited by in F6Publishing: 39] [Article Influence: 22.0] [Reference Citation Analysis]
338 Hull LE, Gold NB, Armstrong KA. Revisiting the Roles of Primary Care Clinicians in Genetic Medicine. JAMA 2020;324:1607-8. [PMID: 32970138 DOI: 10.1001/jama.2020.18745] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
339 Kanzi AM, San JE, Chimukangara B, Wilkinson E, Fish M, Ramsuran V, de Oliveira T. Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. Front Genet 2020;11:544162. [PMID: 33193618 DOI: 10.3389/fgene.2020.544162] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
340 Salem ME, Puccini A, Tie J. Redefining Colorectal Cancer by Tumor Biology. Am Soc Clin Oncol Educ Book 2020;40:1-13. [PMID: 32207671 DOI: 10.1200/EDBK_279867] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
341 Mironovich O, Dadali E, Malmberg S, Markova T, Ryzhkova O, Poliakov A. Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy. Genes (Basel) 2020;11:E1238. [PMID: 33105646 DOI: 10.3390/genes11111238] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
342 Gustavsson E, Galvis G, Juth N. Genetic testing for breast cancer risk, from BRCA1/2 to a seven gene panel: an ethical analysis. BMC Med Ethics 2020;21:102. [PMID: 33087101 DOI: 10.1186/s12910-020-00545-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
343 Van Hout CV, Tachmazidou I, Backman JD, Hoffman JD, Liu D, Pandey AK, Gonzaga-Jauregui C, Khalid S, Ye B, Banerjee N, Li AH, O'Dushlaine C, Marcketta A, Staples J, Schurmann C, Hawes A, Maxwell E, Barnard L, Lopez A, Penn J, Habegger L, Blumenfeld AL, Bai X, O'Keeffe S, Yadav A, Praveen K, Jones M, Salerno WJ, Chung WK, Surakka I, Willer CJ, Hveem K, Leader JB, Carey DJ, Ledbetter DH, Cardon L, Yancopoulos GD, Economides A, Coppola G, Shuldiner AR, Balasubramanian S, Cantor M, Nelson MR, Whittaker J, Reid JG, Marchini J, Overton JD, Scott RA, Abecasis GR, Yerges-Armstrong L, Baras A; Geisinger-Regeneron DiscovEHR Collaboration., Regeneron Genetics Center. Exome sequencing and characterization of 49,960 individuals in the UK Biobank. Nature 2020;586:749-56. [PMID: 33087929 DOI: 10.1038/s41586-020-2853-0] [Cited by in Crossref: 78] [Cited by in F6Publishing: 64] [Article Influence: 39.0] [Reference Citation Analysis]
344 Smit AK, Bartley N, Best MC, Napier CE, Butow P, Newson AJ, Tucker K, Ballinger ML, Thomas DM, Jacobs C, Meiser B, Goldstein D, Savard J, Juraskova I; PiGeOn authorship group. Family communication about genomic sequencing: A qualitative study with cancer patients and relatives. Patient Educ Couns 2021;104:944-52. [PMID: 33129629 DOI: 10.1016/j.pec.2020.10.022] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
345 Aoude LG, Bonazzi VF, Brosda S, Patel K, Koufariotis LT, Oey H, Nones K, Wood S, Pearson JV, Lonie JM, Arneil M, Atkinson V, Smithers BM, Waddell N, Barbour AP. Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients. Sci Rep 2020;10:17687. [PMID: 33077847 DOI: 10.1038/s41598-020-74956-3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
346 Becher N, Andreasen L, Sandager P, Lou S, Petersen OB, Christensen R, Vogel I. Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark. Acta Obstet Gynecol Scand 2020;99:783-90. [PMID: 32304219 DOI: 10.1111/aogs.13871] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
347 Yatsenko SA, Aarabi M, Hu J, Surti U, Ortiz D, Madan-Khetarpal S, Saller DN, Bellissimo D, Rajkovic A. Copy number alterations involving 59 ACMG-recommended secondary findings genes. Clin Genet 2020;98:577-88. [PMID: 33009833 DOI: 10.1111/cge.13852] [Reference Citation Analysis]
348 Winkler EC, Knoppers BM. Ethical challenges of precision cancer medicine. Semin Cancer Biol 2020:S1044-579X(20)30201-7. [PMID: 33045356 DOI: 10.1016/j.semcancer.2020.09.009] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
349 Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium., University of California, San Francisco Center for Maternal–Fetal Precision Medicine. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. N Engl J Med 2020;383:1746-56. [PMID: 33027564 DOI: 10.1056/NEJMoa2023643] [Cited by in Crossref: 22] [Cited by in F6Publishing: 6] [Article Influence: 11.0] [Reference Citation Analysis]
350 Veroux M, Monte IP, Rodolico MS, Corona D, Bella R, Basile A, Palmucci S, Pistorio ML, Lanza G, De Pasquale C, Veroux P. Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team. Biomedicines 2020;8:E396. [PMID: 33036343 DOI: 10.3390/biomedicines8100396] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
351 Veroux M, Monte IP, Rodolico MS, Corona D, Bella R, Basile A, Palmucci S, Pistorio ML, Lanza G, De Pasquale C, Veroux P. Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team. Biomedicines 2020;8:E396. [PMID: 33036343 DOI: 10.3390/biomedicines8100396] [Reference Citation Analysis]
352 Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. NPJ Genom Med 2020;5:44. [PMID: 33083013 DOI: 10.1038/s41525-020-00150-z] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
353 Vears DF, Borry P, Savulescu J, Koplin JJ. Old Challenges or New Issues? Genetic Health Professionals' Experiences Obtaining Informed Consent in Diagnostic Genomic Sequencing. AJOB Empir Bioeth 2021;12:12-23. [PMID: 33017265 DOI: 10.1080/23294515.2020.1823906] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
354 McGlynn JA, Langfelder-Schwind E. Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders. Cold Spring Harb Perspect Med 2020;10:a036640. [PMID: 31570386 DOI: 10.1101/cshperspect.a036640] [Reference Citation Analysis]
355 Garg P, Jadhav B, Rodriguez OL, Patel N, Martin-Trujillo A, Jain M, Metsu S, Olsen H, Paten B, Ritz B, Kooy RF, Gecz J, Sharp AJ. A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. Am J Hum Genet 2020;107:654-69. [PMID: 32937144 DOI: 10.1016/j.ajhg.2020.08.019] [Cited by in Crossref: 15] [Cited by in F6Publishing: 8] [Article Influence: 7.5] [Reference Citation Analysis]
356 Patrinos GP, Pasparakis E, Koiliari E, Pereira AC, Hünemeier T, Pereira LV, Mitropoulou C. Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries. Am J Hum Genet 2020;107:589-95. [PMID: 33007198 DOI: 10.1016/j.ajhg.2020.08.005] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
357 Bowling KM, Thompson ML, Gray DE, Lawlor JMJ, Williams K, East KM, Kelley WV, Moss IP, Absher DM, Partridge EC, Hurst ACE, Edberg JC, Barsh GS, Korf BR, Cooper GM. Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls. Genet Med 2021;23:280-8. [PMID: 32989269 DOI: 10.1038/s41436-020-00976-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
358 Trudsø LC, Andersen JD, Jacobsen SB, Christiansen SL, Congost-Teixidor C, Kampmann ML, Morling N. A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods. PLoS One 2020;15:e0239850. [PMID: 32986766 DOI: 10.1371/journal.pone.0239850] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
359 Guo Q, Feng X, Zhou Y. PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis. Front Genet 2020;11:1020. [PMID: 33173529 DOI: 10.3389/fgene.2020.01020] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
360 Katona BW, Clark DF, Domchek SM. CDH1 on Multigene Panel Testing: Look Before You Leap. J Natl Cancer Inst 2020;112:330-4. [PMID: 31841163 DOI: 10.1093/jnci/djz229] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 5.0] [Reference Citation Analysis]
361 Peterlin B, Gualandi F, Maver A, Servidei S, van der Maarel SM, Lamy F, Mejat A, Evangelista T, Ferlini A. Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study. PLoS One 2020;15:e0239329. [PMID: 32946487 DOI: 10.1371/journal.pone.0239329] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
362 Ishida H, Iguchi A, Aoe M, Nishiuchi R, Matsubara T, Keino D, Sanada M, Shimada A. Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings. Biomed Rep 2020;13:46. [PMID: 32934818 DOI: 10.3892/br.2020.1353] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
363 Boonen RACM, Vreeswijk MPG, van Attikum H. Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction. Front Mol Biosci 2020;7:169. [PMID: 33195396 DOI: 10.3389/fmolb.2020.00169] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
364 Park KJ, Lee W, Chun S, Min WK. The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar. Lab Med 2021;52:250-9. [PMID: 32926152 DOI: 10.1093/labmed/lmaa072] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
365 Biesecker BB. The Psychological Well-being of Pregnant Women Undergoing Prenatal Testing and Screening: A Narrative Literature Review. Hastings Cent Rep 2019;49 Suppl 1:S53-60. [PMID: 31268571 DOI: 10.1002/hast.1017] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
366 Stewart DR, Frone MN, Chanock SJ. Stomaching Multigene Panel Testing: What to Do About CDH1? J Natl Cancer Inst 2020;112:325-6. [PMID: 31841165 DOI: 10.1093/jnci/djz230] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
367 Reble E, Gutierrez Salazar M, Zakoor KR, Khalouei S, Clausen M, Kodida R, Shickh S, Mighton C, Cohn I, Schrader KA, Kim RH, Lerner-Ellis J, Bombard Y. Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings. Hum Genet 2021;140:493-504. [PMID: 32892247 DOI: 10.1007/s00439-020-02220-9] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
368 Hayashi H, Tanishima S, Fujii K, Mori R, Okada C, Yanagita E, Shibata Y, Matsuoka R, Amano T, Yamada T, Yabe I, Kinoshita I, Komatsu Y, Dosaka-Akita H, Nishihara H. Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system. Cancer Sci 2020;111:3926-37. [PMID: 32772458 DOI: 10.1111/cas.14608] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
369 Esquerda M, Palau F, Lorenzo D, Cambra FJ, Bofarull M, Cusi V, Interdisciplinar En Bioetica G. Ethical questions concerning newborn genetic screening. Clin Genet 2021;99:93-8. [PMID: 32779199 DOI: 10.1111/cge.13828] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
370 Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. JAMA Netw Open 2020;3:e2018109. [PMID: 32960281 DOI: 10.1001/jamanetworkopen.2020.18109] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
371 Etchegary H, Winsor M, Power A, Simmonds C. Public engagement with genomic medicine: a summary of town hall discussions. J Community Genet 2021;12:27-35. [PMID: 32865775 DOI: 10.1007/s12687-020-00485-1] [Reference Citation Analysis]
372 Boothe M, Morris R, Robin N. Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation. J Pers Med 2020;10:E105. [PMID: 32867104 DOI: 10.3390/jpm10030105] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
373 Zhong Y, Xu F, Wu J, Schubert J, Li MM. Application of Next Generation Sequencing in Laboratory Medicine. Ann Lab Med 2021;41:25-43. [PMID: 32829577 DOI: 10.3343/alm.2021.41.1.25] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
374 Costain G, Cohn RD, Malkin D. Precision Child Health: an Emerging Paradigm for Paediatric Quality and Safety. Curr Treat Options Peds 2020;6:317-24. [DOI: 10.1007/s40746-020-00207-2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
375 Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG; RCIGM Investigators. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Pediatr Crit Care Med 2019;20:1007-20. [PMID: 31246743 DOI: 10.1097/PCC.0000000000002056] [Cited by in Crossref: 26] [Cited by in F6Publishing: 18] [Article Influence: 13.0] [Reference Citation Analysis]
376 Jiang S, Anis AH, Cromwell I, Mohammadi T, Schrader KA, Lucas J, Armour CM, Clausen M, Bombard Y, Regier DA. Health-care practitioners' preferences for the return of secondary findings from next-generation sequencing: a discrete choice experiment. Genet Med 2020;22:2011-9. [PMID: 32820245 DOI: 10.1038/s41436-020-0927-x] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
377 Reza N, Musunuru K, Owens AT. From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies. Curr Heart Fail Rep 2019;16:157-67. [PMID: 31243690 DOI: 10.1007/s11897-019-00435-0] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
378 Kuo CW, Hwu WL, Chien YH, Hsu C, Hung MZ, Lin IL, Lai F, Lee NC. Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. Mol Genet Genomic Med 2020;8:e1455. [PMID: 32794656 DOI: 10.1002/mgg3.1455] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
379 Zhou X, Wang Y, Shao B, Wang C, Hu P, Qiao F, Xu Z. Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing. J Clin Lab Anal 2020;34:e23480. [PMID: 32779812 DOI: 10.1002/jcla.23480] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
380 Lerario AM, Mohan DR, Montenegro LR, Funari MFA, Nishi MY, Narcizo AM, Benedetti AFF, Oba-Shinjo SM, Vitorino AJ, Santos RASXD, Jorge AAL, Onuchic LF, Marie SKN, Mendonca BB. SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo. Clinics (Sao Paulo) 2020;75:e1913. [PMID: 32785571 DOI: 10.6061/clinics/2020/e1913] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
381 Jahan D, Al Hasan MM, Haque M. Diamond-Blackfan anemia with mutation in RPS19: A case report and an overview of published pieces of literature. J Pharm Bioallied Sci 2020;12:163-70. [PMID: 32742115 DOI: 10.4103/jpbs.JPBS_234_19] [Reference Citation Analysis]
382 Forman A, Sotelo J. Tumor-Based Genetic Testing and Familial Cancer Risk. Cold Spring Harb Perspect Med 2020;10:a036590. [PMID: 31570381 DOI: 10.1101/cshperspect.a036590] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
383 Rego S, Grove ME, Cho MK, Ormond KE. Informed Consent in the Genomics Era. Cold Spring Harb Perspect Med 2020;10:a036582. [PMID: 31570382 DOI: 10.1101/cshperspect.a036582] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
384 Montemayor C, Brunker PAR, Keller MA. Banking with precision: transfusion medicine as a potential universal application in clinical genomics. Curr Opin Hematol 2019;26:480-7. [PMID: 31490317 DOI: 10.1097/MOH.0000000000000536] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
385 Sun H, Yi T, Hao X, Yan H, Wang J, Li Q, Gu X, Zhou X, Wang S, Wang X, Wan P, Han L, Chen J, Zhu H, Zhang H, He Y. Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting. Ultrasound Obstet Gynecol 2020;56:225-32. [PMID: 31633846 DOI: 10.1002/uog.21883] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 6.5] [Reference Citation Analysis]
386 Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC; on behalf of the American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology. Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circ: Genomic and Precision Medicine 2020;13. [DOI: 10.1161/hcg.0000000000000067] [Cited by in Crossref: 37] [Cited by in F6Publishing: 18] [Article Influence: 18.5] [Reference Citation Analysis]
387 Wou K, DeBie I, Carroll J, Brock JA, Douglas Wilson R. Fetal Exome Sequencing on the Horizon. J Obstet Gynaecol Can 2019;41:64-7. [PMID: 30580830 DOI: 10.1016/j.jogc.2018.06.016] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
388 Shelton CA, Whitcomb DC. Precision medicine for pancreatic diseases. Curr Opin Gastroenterol 2020;36:428-36. [PMID: 32740003 DOI: 10.1097/MOG.0000000000000665] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
389 Lopes JL, Rasmussen KJ, Mehta N, Boczek NJ, Hasadsri L. Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing. Clin Chem 2020;66:48-51. [PMID: 32609848 DOI: 10.1093/clinchem.2019.304451] [Reference Citation Analysis]
390 Horiuchi Y, Matsubayashi H, Kiyozumi Y, Nishimura S, Higashigawa S, Kado N, Nagashima T, Mizuguchi M, Ohnami S, Arai M, Urakami K, Kusuhara M, Yamaguchi K. Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. Hum Genet 2021;140:321-31. [PMID: 32710294 DOI: 10.1007/s00439-020-02207-6] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
391 Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, Thies J, Michel D, Quinn C, Scheuerle AE, Umana LA, Uhles CL, Park JY. Clinical Exome Studies Have Inconsistent Coverage. Clin Chem 2020;66:199-206. [PMID: 32609854 DOI: 10.1093/clinchem.2019.306795] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
392 Mehandziska S, Stajkovska A, Stavrevska M, Jakovleva K, Janevska M, Rosalia R, Kungulovski I, Mitrev Z, Kungulovski G. Workflow for the Implementation of Precision Genomics in Healthcare. Front Genet 2020;11:619. [PMID: 32695137 DOI: 10.3389/fgene.2020.00619] [Reference Citation Analysis]
393 Stergachis AB, Weiss ST, Green RC. Biobanks could identify medically actionable findings relevant for COVID-19 clinical care. Nat Med 2020;26:991. [PMID: 32541961 DOI: 10.1038/s41591-020-0953-x] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
394 Kurnat-Thoma E. Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems. Netw Syst Med 2020;3:58-66. [PMID: 32676590 DOI: 10.1089/nsm.2019.0010] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
395 Yasuda T, Sanada M, Nishijima D, Kanamori T, Iijima Y, Hattori H, Saito A, Miyoshi H, Ishikawa Y, Asou N, Usuki K, Hirabayashi S, Kato M, Ri M, Handa H, Ishida T, Shibayama H, Abe M, Iriyama C, Karube K, Nishikori M, Ohshima K, Kataoka K, Yoshida K, Shiraishi Y, Goto H, Adachi S, Kobayashi R, Kiyoi H, Miyazaki Y, Ogawa S, Kurahashi H, Yokoyama H, Manabe A, Iida S, Tomita A, Horibe K. Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study. Cancer Sci 2020;111:3367-78. [PMID: 32619037 DOI: 10.1111/cas.14552] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
396 Hoell C, Wynn J, Rasmussen LV, Marsolo K, Aufox SA, Chung WK, Connolly JJ, Freimuth RR, Kochan D, Hakonarson H, Harr M, Holm IA, Kullo IJ, Lammers PE, Leppig KA, Leslie ND, Myers MF, Sharp RR, Smith ME, Prows CA. Participant choices for return of genomic results in the eMERGE Network. Genet Med 2020;22:1821-9. [PMID: 32669677 DOI: 10.1038/s41436-020-0905-3] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 2.5] [Reference Citation Analysis]
397 Brandão A, Paulo P, Teixeira MR. Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications. Int J Mol Sci 2020;21:E5036. [PMID: 32708810 DOI: 10.3390/ijms21145036] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
398 Divaris K. The Era of the Genome and Dental Medicine. J Dent Res 2019;98:949-55. [PMID: 31329043 DOI: 10.1177/0022034519845674] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
399 Lei TY, Fu F, Li R, Yu QX, Du K, Zhang WW, Deng Q, Li LS, Wang D, Yang X, Zhen L, Li DZ, Liao C. Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography. Prenat Diagn 2020;40:1290-9. [PMID: 32436246 DOI: 10.1002/pd.5737] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
400 Besterman AD, Sadik J, Enenbach MJ, Quintero-Rivera F, DeAntonio M, Martinez-Agosto JA. The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service. Autism Res 2020;13:1450-64. [PMID: 32662193 DOI: 10.1002/aur.2338] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
401 Gurka J, Piherova L, Majer F, Chaloupka A, Zakova D, Pelak O, Krebsova A, Peichl P, Krejci J, Freiberger T, Melenovsky V, Kautzner J, Kalina T, Sikora J, Kubanek M. Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study. ESC Heart Fail 2020;7:2534-43. [PMID: 32657043 DOI: 10.1002/ehf2.12823] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
402 Cocchi E, Nestor JG, Gharavi AG. Clinical Genetic Screening in Adult Patients with Kidney Disease. Clin J Am Soc Nephrol 2020;15:1497-510. [PMID: 32646915 DOI: 10.2215/CJN.15141219] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
403 Mitropoulou C, Litinski V, Kabakchiev B, Rogers S, P Patrinos G. PARC report: health outcomes and value of personalized medicine interventions: impact on patient care. Pharmacogenomics 2020;21:797-807. [PMID: 32635813 DOI: 10.2217/pgs-2019-0194] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
404 Reid S, Pal T. Update on multi-gene panel testing and communication of genetic test results. Breast J 2020;26:1513-9. [PMID: 32639074 DOI: 10.1111/tbj.13971] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
405 Lalonde E, Rentas S, Lin F, Dulik MC, Skraban CM, Spinner NB. Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution. Front Pediatr 2020;8:373. [PMID: 32733828 DOI: 10.3389/fped.2020.00373] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
406 Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med 2020;5:29. [PMID: 32655885 DOI: 10.1038/s41525-020-0137-0] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
407 Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG. Management of Secondary Genomic Findings. Am J Hum Genet 2020;107:3-14. [PMID: 32619490 DOI: 10.1016/j.ajhg.2020.05.002] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 4.5] [Reference Citation Analysis]
408 Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM. High-Throughput Reclassification of SCN5A Variants. Am J Hum Genet 2020;107:111-23. [PMID: 32533946 DOI: 10.1016/j.ajhg.2020.05.015] [Cited by in Crossref: 49] [Cited by in F6Publishing: 27] [Article Influence: 24.5] [Reference Citation Analysis]
409 Brown EE, Sturm AC, Cuchel M, Braun LT, Duell PB, Underberg JA, Jacobson TA, Hegele RA. Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association. Journal of Clinical Lipidology 2020;14:398-413. [DOI: 10.1016/j.jacl.2020.04.011] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 8.0] [Reference Citation Analysis]
410 Buchanan AH, Lester Kirchner H, Schwartz MLB, Kelly MA, Schmidlen T, Jones LK, Hallquist MLG, Rocha H, Betts M, Schwiter R, Butry L, Lazzeri AL, Frisbie LR, Rahm AK, Hao J, Willard HF, Martin CL, Ledbetter DH, Williams MS, Sturm AC. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet Med 2020;22:1874-82. [PMID: 32601386 DOI: 10.1038/s41436-020-0876-4] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 9.0] [Reference Citation Analysis]
411 Folkersen L, Pain O, Ingason A, Werge T, Lewis CM, Austin J. Impute.me: An Open-Source, Non-profit Tool for Using Data From Direct-to-Consumer Genetic Testing to Calculate and Interpret Polygenic Risk Scores. Front Genet 2020;11:578. [PMID: 32714365 DOI: 10.3389/fgene.2020.00578] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
412 Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum Genet 2020;139:1197-207. [PMID: 32596782 DOI: 10.1007/s00439-020-02199-3] [Cited by in Crossref: 51] [Cited by in F6Publishing: 46] [Article Influence: 25.5] [Reference Citation Analysis]
413 Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J. Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study. J Med Genet 2021;58:275-83. [PMID: 32581083 DOI: 10.1136/jmedgenet-2020-106936] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
414 Ge H, Wu Q, Lu H, Huang Y, Zhou T, Tan D, ZhongqinJin. Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation. BMC Med Genet 2020;21:135. [PMID: 32576142 DOI: 10.1186/s12881-020-01067-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
415 Hill M, Hammond J, Lewis C, Mellis R, Clement E, Chitty LS. Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges. Eur J Hum Genet 2020;28:1529-40. [PMID: 32561901 DOI: 10.1038/s41431-020-0667-z] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
416 eMERGE Clinical Annotation Working Group. Frequency of genomic secondary findings among 21,915 eMERGE network participants. Genet Med 2020;22:1470-7. [PMID: 32546831 DOI: 10.1038/s41436-020-0810-9] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 7.0] [Reference Citation Analysis]
417 Song X, Fang X, Tang X, Cao Q, Zhai Y, Chen J, Liu J, Zhang Z, Xiang T, Qian Y, Wu B, Wang H, Zhou W, Liu C, Shen Q, Xu H, Rao J. COQ8B nephropathy: Early detection and optimal treatment. Mol Genet Genomic Med 2020;8:e1360. [PMID: 32543055 DOI: 10.1002/mgg3.1360] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
418 Schupmann W, Jamal L, Berkman BE. Re-examining the Ethics of Genetic Counselling in the Genomic Era. J Bioeth Inq 2020;17:325-35. [PMID: 32557217 DOI: 10.1007/s11673-020-09983-w] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
419 Campuzano O, Sarquella-Brugada G, Arbelo E, Cesar S, Jordà P, Pérez-Serra A, Toro R, Brugada J, Brugada R. Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation. J Clin Med 2020;9:E1866. [PMID: 32549272 DOI: 10.3390/jcm9061866] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
420 Finucane BM, Myers SM, Martin CL, Ledbetter DH. Long overdue: including adults with brain disorders in precision health initiatives. Curr Opin Genet Dev 2020;65:47-52. [PMID: 32544666 DOI: 10.1016/j.gde.2020.05.001] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
421 Arbab M, Shen MW, Mok B, Wilson C, Matuszek Ż, Cassa CA, Liu DR. Determinants of Base Editing Outcomes from Target Library Analysis and Machine Learning. Cell 2020;182:463-480.e30. [PMID: 32533916 DOI: 10.1016/j.cell.2020.05.037] [Cited by in Crossref: 43] [Cited by in F6Publishing: 37] [Article Influence: 21.5] [Reference Citation Analysis]
422 Iadarola B, Xumerle L, Lavezzari D, Paterno M, Marcolungo L, Beltrami C, Fortunati E, Mei D, Vetro A, Guerrini R, Parrini E, Rossato M, Delledonne M. Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length. Sci Rep 2020;10:9424. [PMID: 32523024 DOI: 10.1038/s41598-020-66331-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
423 Beleford DT, Van Ziffle J, Hodoglugil U, Slavotinek AM. A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. Eur J Med Genet 2020;63:103969. [PMID: 32534219 DOI: 10.1016/j.ejmg.2020.103969] [Reference Citation Analysis]
424 Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, Hawkes L, Douillard JY, Wallace SE, Rial-Sebbag E, Meric-Bersntam F, George A, Chubb D, Loveday C, Ladanyi M, Berger MF, Taylor BS, Turnbull C. Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group. Ann Oncol 2019;30:1221-31. [PMID: 31050713 DOI: 10.1093/annonc/mdz136] [Cited by in Crossref: 43] [Cited by in F6Publishing: 34] [Article Influence: 21.5] [Reference Citation Analysis]
425 Li R, Fu F, Yu Q, Wang D, Jing X, Zhang Y, Li F, Li F, Han J, Pan M, Zhen L, Li D, Liao C. Prenatal exome sequencing in fetuses with congenital heart defects. Clin Genet 2020;98:215-30. [PMID: 32410215 DOI: 10.1111/cge.13774] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
426 Ho AS, Ochoa A, Jayakumaran G, Zehir A, Valero Mayor C, Tepe J, Makarov V, Dalin MG, He J, Bailey M, Montesion M, Ross JS, Miller VA, Chan L, Ganly I, Dogan S, Katabi N, Tsipouras P, Ha P, Agrawal N, Solit DB, Futreal PA, El Naggar AK, Reis-Filho JS, Weigelt B, Ho AL, Schultz N, Chan TA, Morris LG. Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma. J Clin Invest 2019;129:4276-89. [PMID: 31483290 DOI: 10.1172/JCI128227] [Cited by in Crossref: 41] [Cited by in F6Publishing: 18] [Article Influence: 20.5] [Reference Citation Analysis]
427 Okano T, Imai K, Naruto T, Okada S, Yamashita M, Yeh TW, Ono S, Tanaka K, Okamoto K, Tanita K, Matsumoto K, Toyofuku E, Kumaki-Matsumoto E, Okamura M, Ueno H, Ogawa S, Ohara O, Takagi M, Kanegane H, Morio T. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity. J Clin Immunol 2020;40:729-40. [PMID: 32506361 DOI: 10.1007/s10875-020-00798-3] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 4.0] [Reference Citation Analysis]
428 Fernández-Rhodes L, Young KL, Lilly AG, Raffield LM, Highland HM, Wojcik GL, Agler C, Love SM, Okello S, Petty LE, Graff M, Below JE, Divaris K, North KE. Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations. Circ Res 2020;126:1816-40. [PMID: 32496918 DOI: 10.1161/CIRCRESAHA.120.315893] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
429 Schienda J, Stopfer J. Cancer Genetic Counseling-Current Practice and Future Challenges. Cold Spring Harb Perspect Med 2020;10:a036541. [PMID: 31548230 DOI: 10.1101/cshperspect.a036541] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
430 Carroll J, Wigby K, Murray S. Genetic testing strategies in the newborn. J Perinatol 2020;40:1007-16. [PMID: 32472107 DOI: 10.1038/s41372-020-0697-y] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
431 Dixon K, Young S, Shen Y, Thibodeau ML, Fok A, Pleasance E, Zhao E, Jones M, Aubert G, Armstrong L, Virani A, Regier D, Gelmon K, Renouf D, Chia S, Bosdet I, Rassekh SR, Deyell RJ, Yip S, Fisic A, Titmuss E, Abadi S, Jones SJM, Sun S, Karsan A, Marra M, Laskin J, Lim H, Schrader KA. Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology. JNCI Cancer Spectr 2020;4:pkaa045. [PMID: 33134827 DOI: 10.1093/jncics/pkaa045] [Reference Citation Analysis]
432 Luo X, Deng S, Jiang Y, Wang X, Al-Raimi AMA, Wu L, Liu X, Song Y, Chen X, Zhu F. Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome. Front Genet 2020;11:479. [PMID: 32528524 DOI: 10.3389/fgene.2020.00479] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
433 Rost C, Dent KM, Botkin J, Rothwell E. Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients. J Genet Couns 2020;29:1234-44. [PMID: 32453499 DOI: 10.1002/jgc4.1292] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
434 Pinheiro M, Lupinacci FCS, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, Andrade SCDS, Aagaard MM, Basso TR, Dos Reis MB, Villacis RAR, Roffé M, Hajj GNM, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR. Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer. Cancers (Basel) 2020;12:E1289. [PMID: 32443704 DOI: 10.3390/cancers12051289] [Reference Citation Analysis]
435 Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Semotiuk K, Ott K, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team. Quality of life drives patients' preferences for secondary findings from genomic sequencing. Eur J Hum Genet 2020;28:1178-86. [PMID: 32424322 DOI: 10.1038/s41431-020-0640-x] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
436 Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, Ferlini A. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet 2020;28:1141-59. [PMID: 32424326 DOI: 10.1038/s41431-020-0643-7] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
437 Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH. Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents. BMC Pediatr 2020;20:222. [PMID: 32414353 DOI: 10.1186/s12887-020-02070-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
438 Deignan JL, Chao E, Gannon JL, Greely HT, Hagman KDF, Mao R, Topper S; ACMG Laboratory Quality Assurance Committee. Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020;22:1285-7. [PMID: 32404921 DOI: 10.1038/s41436-020-0821-6] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
439 Ward ET, Kostick KM, Lázaro-Muñoz G. Integrating Genomics into Psychiatric Practice: Ethical and Legal Challenges for Clinicians. Harv Rev Psychiatry 2019;27:53-64. [PMID: 30614887 DOI: 10.1097/HRP.0000000000000203] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
440 Reed-Weston AE, Espinal A, Hasar B, Chiuzan C, Lazarin G, Weng C, Appelbaum PS, Chung WK, Wynn J. Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals. J Community Genet 2020;11:391-403. [PMID: 32382939 DOI: 10.1007/s12687-020-00464-6] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
441 Zhao S, Zhang Y, Chen W, Li W, Wang S, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 2021;58:41-7. [PMID: 32381727 DOI: 10.1136/jmedgenet-2019-106823] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 5.0] [Reference Citation Analysis]
442 Hercher L. Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine. Cold Spring Harb Perspect Med 2020;10:a036657. [PMID: 31548217 DOI: 10.1101/cshperspect.a036657] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
443 Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Design and Reporting Considerations for Genetic Screening Tests. The Journal of Molecular Diagnostics 2020;22:599-609. [DOI: 10.1016/j.jmoldx.2020.01.014] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
444 Dawson PA, Lee S, Ewing AD, Prins JB, Heussler HS. Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome. Mol Genet Metab Rep 2020;23:100593. [PMID: 32382505 DOI: 10.1016/j.ymgmr.2020.100593] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
445 Clowes Candadai SV, Sikes MC, Thies JM, Freed AS, Bennett JT. Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges. J Genet Couns 2019;28:283-91. [PMID: 30964580 DOI: 10.1002/jgc4.1116] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
446 Wiesner GL, Kulchak Rahm A, Appelbaum P, Aufox S, Bland ST, Blout CL, Christensen KD, Chung WK, Clayton EW, Green RC, Harr MH, Henrikson N, Hoell C, Holm IA, Jarvik GP, Kullo IJ, Lammers PE, Larson EB, Lindor NM, Marasa M, F Myers M, Peterson JF, Prows CA, Ralston JD, Milo Rasouly H, Sharp RR, Smith ME, Van Driest SL, Williams JL, Williams MS, Wynn J, Leppig KA. Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. J Pers Med 2020;10:E30. [PMID: 32349224 DOI: 10.3390/jpm10020030] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 7.0] [Reference Citation Analysis]
447 Hays T, Groopman EE, Gharavi AG. Genetic testing for kidney disease of unknown etiology. Kidney Int 2020;98:590-600. [PMID: 32739203 DOI: 10.1016/j.kint.2020.03.031] [Cited by in Crossref: 9] [Cited by in F6Publishing: 3] [Article Influence: 4.5] [Reference Citation Analysis]
448 Li MM, Chao E, Esplin ED, Miller DT, Nathanson KL, Plon SE, Scheuner MT, Stewart DR; ACMG Professional Practice and Guidelines Committee. Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020;22:1142-8. [PMID: 32321997 DOI: 10.1038/s41436-020-0783-8] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 13.5] [Reference Citation Analysis]
449 Kilbride MK, Bradbury AR. The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad. JAMA 2020;323:1443-4. [PMID: 32074263 DOI: 10.1001/jama.2019.22504] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
450 Neu MB, Bowling KM, Cooper GM. Clinical utility of genomic sequencing. Curr Opin Pediatr 2019;31:732-8. [PMID: 31693580 DOI: 10.1097/MOP.0000000000000815] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
451 Hui L, Szepe E, Halliday J, Lewis C. Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review. Prenat Diagn 2020;40:652-60. [PMID: 32096235 DOI: 10.1002/pd.5673] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
452 Mazzarotto F, Olivotto I, Boschi B, Girolami F, Poggesi C, Barton PJR, Walsh R. Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing? J Am Heart Assoc 2020;9:e015473. [PMID: 32306808 DOI: 10.1161/JAHA.119.015473] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
453 Amor DJ, Chitty LS, Van den Veyver IB. Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing. Prenat Diagn 2020;40:1508-14. [PMID: 32091628 DOI: 10.1002/pd.5670] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
454 Nestor JG, Marasa M, Milo-Rasouly H, Groopman EE, Husain SA, Mohan S, Fernandez H, Aggarwal VS, Ahram DF, Vena N, Bogyo K, Bomback AS, Radhakrishnan J, Appel GB, Ahn W, Cohen DJ, Canetta PA, Dube GK, Rao MK, Morris HK, Crew RJ, Sanna-Cherchi S, Kiryluk K, Gharavi AG. Pilot Study of Return of Genetic Results to Patients in Adult Nephrology. Clin J Am Soc Nephrol 2020;15:651-64. [PMID: 32299846 DOI: 10.2215/CJN.12481019] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
455 Roberts JS, Patterson AK, Uhlmann WR. Genetic testing for neurodegenerative diseases: Ethical and health communication challenges. Neurobiol Dis 2020;141:104871. [PMID: 32302673 DOI: 10.1016/j.nbd.2020.104871] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
456 De Castro M, Turner C, Kirmse B, Ferreira C. Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism. TRD 2020;4:159-68. [DOI: 10.3233/trd-190042] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
457 Carlson P, Wojczynski MK, Druley T, Lee JH, Zmuda JM, Thyagarajan B. Prevalence of clinically actionable disease variants in exceptionally long-lived families. BMC Med Genomics 2020;13:61. [PMID: 32272925 DOI: 10.1186/s12920-020-0710-5] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
458 Hersh CP, Adcock IM, Celedón JC, Cho MH, Christiani DC, Himes BE, Kaminski N, Mathias RA, Meyers DA, Quackenbush J, Redline S, Steiling KA, Tabor HK, Tobin MD, Wurfel MM, Yang IV, Koppelman GH. High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report. Ann Am Thorac Soc 2019;16:1-16. [PMID: 30592451 DOI: 10.1513/AnnalsATS.201810-716WS] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
459 Schroeder W. Risks at the Intersection of Research and Oncology Nursing. Semin Oncol Nurs 2020;36:151002. [PMID: 32265167 DOI: 10.1016/j.soncn.2020.151002] [Reference Citation Analysis]
460 Benson KA, White M, Allen NM, Byrne S, Carton R, Comerford E, Costello D, Doherty C, Dunleavey B, El-Naggar H, Gangadharan N, Heavin S, Kearney H, Lench NJ, Lynch J, McCormack M, Regan MO, Podesta K, Power K, Rogers AS, Steward CA, Sweeney B, Webb D, Fitzsimons M, Greally M, Delanty N, Cavalleri GL. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. Eur J Hum Genet 2020;28:1066-77. [PMID: 32238909 DOI: 10.1038/s41431-020-0610-3] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 5.0] [Reference Citation Analysis]
461 Bitzer M, Ostermann L, Horger M, Biskup S, Schulze M, Ruhm K, Hilke F, Öner Ö, Nikolaou K, Schroeder C, Riess O, Fend F, Zips D, Hinterleitner M, Zender L, Tabatabai G, Beha J, Malek NP. Next-Generation Sequencing of Advanced GI Tumors Reveals Individual Treatment Options. JCO Precis Oncol 2020;4:PO. [PMID: 32923905 DOI: 10.1200/PO.19.00359] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 2.5] [Reference Citation Analysis]
462 Kubánek M, Schimerová T, Piherová L, Brodehl A, Krebsová A, Ratnavadivel S, Stanasiuk C, Hansíková H, Zeman J, Paleček T, Houštěk J, Drahota Z, Nůsková H, Mikešová J, Zámečník J, Macek M Jr, Ridzoň P, Malusková J, Stránecký V, Melenovský V, Milting H, Kmoch S. Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction. J Clin Med 2020;9:E937. [PMID: 32235386 DOI: 10.3390/jcm9040937] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
463 May T, Cannon A, Moss IP, Nakano-Okuno M, Hardy S, Miskell EL, Kelley WV, Curry W, East KM, Acemgil A, Schach J, Sodeke SO, Fouad MN, Johnson RD, Cimino J, Richards JL, Knight SJ, Korf B. Recruiting diversity where it exists: The Alabama Genomic Health Initiative. J Genet Couns 2020;29:471-8. [PMID: 32220047 DOI: 10.1002/jgc4.1258] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
464 Carey AS, Schacht JP, Umandap C, Fasel D, Weng C, Cappell J, Chung WK, Kernie SG. Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders. Pediatr Res 2020;88:761-8. [PMID: 32221475 DOI: 10.1038/s41390-020-0858-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
465 Lanktree MB, Iliuta IA, Haghighi A, Song X, Pei Y. Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 2019;34:1453-60. [PMID: 30165646 DOI: 10.1093/ndt/gfy261] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 5.5] [Reference Citation Analysis]
466 Cullinan N, Capra M, Mcveigh TP. Genetic Testing for Cancer Predisposition Syndromes in Adolescents and Young Adults (AYAs). Curr Genet Med Rep 2020;8:61-71. [DOI: 10.1007/s40142-020-00187-7] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
467 Sobel ME, Dreyfus JC, Dillehay McKillip K, Kolarcik C, Muller WA, Scott MJ, Siegal GP, Wadosky K, O'Leary TJ. Return of Individual Research Results: A Guide for Biomedical Researchers Utilizing Human Biospecimens. Am J Pathol 2020;190:918-33. [PMID: 32201265 DOI: 10.1016/j.ajpath.2020.01.014] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
468 James CA, Syrris P, van Tintelen JP, Calkins H. The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy. European Heart Journal 2020;41:1393-400. [DOI: 10.1093/eurheartj/ehaa141] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 8.5] [Reference Citation Analysis]
469 Jalkh N, Mehawej C, Chouery E. Actionable Exomic Secondary Findings in 280 Lebanese Participants. Front Genet 2020;11:208. [PMID: 32231684 DOI: 10.3389/fgene.2020.00208] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.5] [Reference Citation Analysis]
470 Рыжкова О, Кардымон О, Прохорчук Е, Коновалов Ф, Масленников А, Степанов В, Афанасьев А, Заклязьминская Е, Ребриков Д, Савостьянов К, Глотов А, Костарева А, Павлов А, Голубенко М, Поляков А, Куцев С. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Nauchno-prakticheskii zhurnal «Medicinskaia genetika» 2020. [DOI: 10.25557/2073-7998.2019.02.3-23] [Cited by in Crossref: 13] [Cited by in F6Publishing: 7] [Article Influence: 6.5] [Reference Citation Analysis]
471 Ng C, Perry MD, Liang W, Smith NJ, Foo B, Shrier A, Lukacs GL, Hill AP, Vandenberg JI. High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants. Heart Rhythm 2020;17:492-500. [DOI: 10.1016/j.hrthm.2019.09.020] [Cited by in Crossref: 24] [Cited by in F6Publishing: 14] [Article Influence: 12.0] [Reference Citation Analysis]
472 Halverson CM, Jones SH, Novak L, Simpson C, Velez Edwards DR, Zhao SK, Clayton EW. What Results Should Be Returned from Opportunistic Screening in Translational Research? J Pers Med 2020;10:E13. [PMID: 32121581 DOI: 10.3390/jpm10010013] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
473 O'Donnell CJ. Opportunities, challenges and expectations management for translating biobank research to precision medicine. Eur J Epidemiol 2020;35:1-4. [PMID: 32107740 DOI: 10.1007/s10654-020-00616-5] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
474 Sirr A, Lo RS, Cromie GA, Scott AC, Ashmead J, Heyesus M, Dudley AM. A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1. J Inherit Metab Dis 2020;43:758-69. [PMID: 32077105 DOI: 10.1002/jimd.12227] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
475 Mazzarotto F, Olivotto I, Walsh R. Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy. Cardiovasc Drugs Ther 2020;34:241-53. [DOI: 10.1007/s10557-020-06948-4] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 6.0] [Reference Citation Analysis]
476 American College of Obstetricians and Gynecologists' Presidential Task Force on Pregnancy and Heart Disease and Committee on Practice Bulletins—Obstetrics. ACOG Practice Bulletin No. 212: Pregnancy and Heart Disease. Obstet Gynecol 2019;133:e320-56. [PMID: 31022123 DOI: 10.1097/AOG.0000000000003243] [Cited by in Crossref: 94] [Cited by in F6Publishing: 24] [Article Influence: 47.0] [Reference Citation Analysis]
477 Diebold I, Schön U, Scharf F, Benet-Pagès A, Laner A, Holinski-Feder E, Abicht A. Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes. Hum Mutat 2020;41:1025-32. [PMID: 32048431 DOI: 10.1002/humu.23996] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
478 Jelin AC, Sobreira N, Wohler E, Solomon B, Sparks T, Sagaser KG, Forster KR, Miller J, Witmer PD, Hamosh A, Valle D, Blakemore K. The utility of exome sequencing for fetal pleural effusions. Prenat Diagn 2020;40:590-5. [PMID: 31994743 DOI: 10.1002/pd.5650] [Reference Citation Analysis]
479 Radke TF, Patton SJ, Pantazoglou E, Sass J, Thun S. Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation. Eur J Hum Genet 2020;28:558-66. [PMID: 32055015 DOI: 10.1038/s41431-020-0586-z] [Reference Citation Analysis]
480 Shendure J, Findlay GM, Snyder MW. Genomic Medicine-Progress, Pitfalls, and Promise. Cell 2019;177:45-57. [PMID: 30901547 DOI: 10.1016/j.cell.2019.02.003] [Cited by in Crossref: 69] [Cited by in F6Publishing: 45] [Article Influence: 34.5] [Reference Citation Analysis]
481 Abul-Husn NS, Kenny EE. Personalized Medicine and the Power of Electronic Health Records. Cell 2019;177:58-69. [PMID: 30901549 DOI: 10.1016/j.cell.2019.02.039] [Cited by in Crossref: 66] [Cited by in F6Publishing: 43] [Article Influence: 33.0] [Reference Citation Analysis]
482 Smith DM, Peshkin BN, Springfield TB, Brown RP, Hwang E, Kmiecik S, Shapiro R, Eldadah Z, Lundergan C, McAlduff J, Levin B, Swain SM. Pharmacogenetics in Practice: Estimating the Clinical Actionability of Pharmacogenetic Testing in Perioperative and Ambulatory Settings. Clin Transl Sci 2020;13:618-27. [PMID: 31961467 DOI: 10.1111/cts.12748] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 4.5] [Reference Citation Analysis]
483 West KM, Blacksher E, Cavanaugh KL, Fullerton SM, Umeukeje EM, Young BA, Burke W. At the Research-Clinical Interface: Returning Individual Genetic Results to Research Participants. Clin J Am Soc Nephrol 2020;15:1181-9. [PMID: 32041801 DOI: 10.2215/CJN.09670819] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
484 Scott IA, Attia J, Moynihan R. Promises and perils of using genetic tests to predict risk of disease. BMJ 2020;368:m14. [PMID: 32033934 DOI: 10.1136/bmj.m14] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
485 Gilbert MA, Schultz-Rogers L, Rajagopalan R, Grochowski CM, Wilkins BJ, Biswas S, Conlin LK, Fiorino KN, Dhamija R, Pack MA, Klee EW, Piccoli DA, Spinner NB. Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. Hum Mutat 2020;41:973-82. [PMID: 31944481 DOI: 10.1002/humu.23986] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
486 Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA. Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis. Cold Spring Harb Mol Case Stud 2020;6:a004531. [PMID: 32014855 DOI: 10.1101/mcs.a004531] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
487 Pottinger TD, Puckelwartz MJ, Pesce LL, Robinson A, Kearns S, Pacheco JA, Rasmussen-Torvik LJ, Smith ME, Chisholm R, McNally EM. Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants. J Am Heart Assoc 2020;9:e013808. [PMID: 32009526 DOI: 10.1161/JAHA.119.013808] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
488 Fatkin D, Johnson R. Variants of Uncertain Significance and "Missing Pathogenicity". J Am Heart Assoc 2020;9:e015588. [PMID: 32009523 DOI: 10.1161/JAHA.119.015588] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
489 Jauregui R, Cho A, Oh JK, Tanaka AJ, Sparrow JR, Tsang SH. Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65. Cold Spring Harb Mol Case Stud 2020;6:a004952. [PMID: 32014860 DOI: 10.1101/mcs.a004952] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
490 Lindsay F, Anderson I, Wentzensen IM, Suhrbier D, Stevens CA. Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature. Am J Med Genet A 2020;182:623-7. [PMID: 32003537 DOI: 10.1002/ajmg.a.61496] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
491 Koplin JJ, Savulescu J, Vears DF. Why genomics researchers are sometimes morally required to hunt for secondary findings. BMC Med Ethics 2020;21:11. [PMID: 32005225 DOI: 10.1186/s12910-020-0449-8] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
492 Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study. BMC Med Ethics 2020;21:9. [PMID: 32000764 DOI: 10.1186/s12910-020-0452-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 3.5] [Reference Citation Analysis]
493 Klute KA. The Future of Precision Oncology for the Treatment of Solid Tumors. Clin Pharmacol Ther 2020;108:416-8. [PMID: 31983061 DOI: 10.1002/cpt.1739] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
494 Kaufman-Shriqui V, Salem H, Boaz M, Birk R. Knowledge and Attitudes Towards Nutrigenetics: Findings from the 2018 Unified Forces Preventive Nutrition Conference (UFPN). Nutrients 2020;12:E335. [PMID: 32012749 DOI: 10.3390/nu12020335] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
495 Downie L, Halliday J, Lewis S, Lunke S, Lynch E, Martyn M, Gaff C, Jarmolowicz A, Amor DJ. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project. Genet Med 2020;22:937-44. [PMID: 31974413 DOI: 10.1038/s41436-019-0745-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
496 Bartley N, Best M, Jacobs C, Juraskova I, Newson AJ, Savard J, Meiser B, Ballinger ML, Thomas DM, Biesecker B, Butow P. Cancer patients' views and understanding of genome sequencing: a qualitative study. J Med Genet 2020;57:671-6. [PMID: 31980566 DOI: 10.1136/jmedgenet-2019-106410] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
497 Pinese M, Lacaze P, Rath EM, Stone A, Brion MJ, Ameur A, Nagpal S, Puttick C, Husson S, Degrave D, Cristina TN, Kahl VFS, Statham AL, Woods RL, McNeil JJ, Riaz M, Barr M, Nelson MR, Reid CM, Murray AM, Shah RC, Wolfe R, Atkins JR, Fitzsimmons C, Cairns HM, Green MJ, Carr VJ, Cowley MJ, Pickett HA, James PA, Powell JE, Kaplan W, Gibson G, Gyllensten U, Cairns MJ, McNamara M, Dinger ME, Thomas DM. The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly. Nat Commun 2020;11:435. [PMID: 31974348 DOI: 10.1038/s41467-019-14079-0] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 7.0] [Reference Citation Analysis]
498 Nagashima T, Yamaguchi K, Urakami K, Shimoda Y, Ohnami S, Ohshima K, Tanabe T, Naruoka A, Kamada F, Serizawa M, Hatakeyama K, Matsumura K, Ohnami S, Maruyama K, Mochizuki T, Kusuhara M, Shiomi A, Ohde Y, Terashima M, Uesaka K, Onitsuka T, Nishimura S, Hirashima Y, Hayashi N, Kiyohara Y, Tsubosa Y, Katagiri H, Niwakawa M, Takahashi K, Kashiwagi H, Nakagawa M, Ishida Y, Sugino T, Takahashi M, Akiyama Y. Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients. Cancer Sci 2020;111:687-99. [PMID: 31863614 DOI: 10.1111/cas.14290] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 6.0] [Reference Citation Analysis]
499 Schickhardt C, Fleischer H, Winkler EC. Do patients and research subjects have a right to receive their genomic raw data? An ethical and legal analysis. BMC Med Ethics 2020;21:7. [PMID: 31948449 DOI: 10.1186/s12910-020-0446-y] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 4.5] [Reference Citation Analysis]
500 Turner H, Jackson L. Evidence for penetrance in patients without a family history of disease: a systematic review. Eur J Hum Genet 2020;28:539-50. [PMID: 31937893 DOI: 10.1038/s41431-019-0556-5] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Article Influence: 4.5] [Reference Citation Analysis]
501 Glazer AM, Kroncke BM, Matreyek KA, Yang T, Wada Y, Shields T, Salem JE, Fowler DM, Roden DM. Deep Mutational Scan of an SCN5A Voltage Sensor. Circ Genom Precis Med 2020;13:e002786. [PMID: 31928070 DOI: 10.1161/CIRCGEN.119.002786] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]
502 Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC; ACMG Professional Practice and Guidelines Committee. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2020;22:675-80. [PMID: 31911674 DOI: 10.1038/s41436-019-0731-7] [Cited by in Crossref: 41] [Cited by in F6Publishing: 28] [Article Influence: 20.5] [Reference Citation Analysis]
503 Morain SR, Weinfurt K, Bollinger J, Geller G, Mathews DJ, Sugarman J. Ethics and Collateral Findings in Pragmatic Clinical Trials. Am J Bioeth 2020;20:6-18. [PMID: 31896322 DOI: 10.1080/15265161.2020.1689031] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 6.0] [Reference Citation Analysis]
504 Dahary D, Golan Y, Mazor Y, Zelig O, Barshir R, Twik M, Iny Stein T, Rosner G, Kariv R, Chen F, Zhang Q, Shen Y, Safran M, Lancet D, Fishilevich S. Genome analysis and knowledge-driven variant interpretation with TGex. BMC Med Genomics 2019;12:200. [PMID: 31888639 DOI: 10.1186/s12920-019-0647-8] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
505 Powis Z, Farwell Hagman KD, Blanco K, Au M, Graham JM, Singh K, Gallant N, Randolph LM, Towne M, Hunter J, Shinde DN, Palmaer E, Schoenfeld B, Tang S. When moments matter: Finding answers with rapid exome sequencing. Mol Genet Genomic Med 2020;8:e1027. [PMID: 31872981 DOI: 10.1002/mgg3.1027] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
506 Aizawa Y, Nagami F, Ohashi N, Kato K. A proposal on the first Japanese practical guidance for the return of individual genomic results in research settings. J Hum Genet 2020;65:251-61. [PMID: 31873219 DOI: 10.1038/s10038-019-0697-y] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
507 Sangkuhl K, Dirksen RT, Alvarellos ML, Altman RB, Klein TE. PharmGKB summary: very important pharmacogene information for CACNA1S. Pharmacogenet Genomics 2020;30:34-44. [PMID: 31851124 DOI: 10.1097/FPC.0000000000000393] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
508 Sirohi D, Schmidt RL, Aisner DL, Behdad A, Betz BL, Brown N, Coleman JF, Corless CL, Deftereos G, Ewalt MD, Fernandes H, Hsiao SJ, Mansukhani MM, Murray SS, Niu N, Ritterhouse LL, Suarez CJ, Tafe LJ, Thorson JA, Segal JP, Furtado LV. Multi-Institutional Evaluation of Interrater Agreement of Variant Classification Based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer. J Mol Diagn 2020;22:284-93. [PMID: 31837433 DOI: 10.1016/j.jmoldx.2019.10.010] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
509 Rowe CA, Wright CF. Expanded universal carrier screening and its implementation within a publicly funded healthcare service. J Community Genet 2020;11:21-38. [PMID: 31828606 DOI: 10.1007/s12687-019-00443-6] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 3.3] [Reference Citation Analysis]
510 Bombard Y, Clausen M, Shickh S, Mighton C, Casalino S, Kim THM, Muir SM, Carlsson L, Baxter N, Scheer A, Elser C, Eisen A, Panchal S, Graham T, Aronson M, Piccinin C, Mancuso T, Semotiuk K, Evans M, Carroll JC, Offit K, Robson M, Hamilton JG, Glogowski E, Schrader K, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A; Incidental Genomics Study Team. Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial. Genet Med 2020;22:727-35. [PMID: 31822848 DOI: 10.1038/s41436-019-0702-z] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
511 Deng Y, Xie Q, Zhang G, Li S, Wu Z, Ma Z, He X, Gao Y, Wang Y, Kang X, Wang J. Slow skeletal muscle troponin T, titin and myosin light chain 3 are candidate prognostic biomarkers for Ewing's sarcoma. Oncol Lett 2019;18:6431-42. [PMID: 31807166 DOI: 10.3892/ol.2019.11044] [Reference Citation Analysis]
512 Shieh JTC. Genomic Sequencing Expansion and Incomplete Penetrance. Pediatrics 2019;143:S22-6. [PMID: 30600267 DOI: 10.1542/peds.2018-1099E] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
513 Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH; BabySeq Project Team. Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. Pediatrics 2019;143:S37-43. [PMID: 30600270 DOI: 10.1542/peds.2018-1099H] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 4.3] [Reference Citation Analysis]
514 VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA; BabySeq Project Group. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics 2019;143:S27-32. [PMID: 30600268 DOI: 10.1542/peds.2018-1099F] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
515 Raghuram Pillai P, Prows CA, Martin LJ, Myers MF. Decisional conflict among adolescents and parents making decisions about genomic sequencing results. Clin Genet 2020;97:312-20. [PMID: 31654527 DOI: 10.1111/cge.13658] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
516 Aldubayan SH. Leveraging Clinical Tumor-Profiling Programs to Achieve Comprehensive Germline-Inclusive Precision Cancer Medicine. JCO Precision Oncology 2019. [DOI: 10.1200/po.19.00108] [Cited by in Crossref: 5] [Article Influence: 1.7] [Reference Citation Analysis]
517 Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med 2020;22:736-44. [PMID: 31780822 DOI: 10.1038/s41436-019-0708-6] [Cited by in Crossref: 27] [Cited by in F6Publishing: 22] [Article Influence: 9.0] [Reference Citation Analysis]
518 Papaz T, Liston E, Zahavich L, Stavropoulos DJ, Jobling RK, Kim RH, Reuter M, Miron A, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Yao R, Akinrinade O, Breckpot J, Mital S. Return of genetic and genomic research findings: experience of a pediatric biorepository. BMC Med Genomics 2019;12:173. [PMID: 31775751 DOI: 10.1186/s12920-019-0618-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
519 Biesecker LG. Genomic screening and genomic diagnostic testing-two very different kettles of fish. Genome Med 2019;11:75. [PMID: 31775856 DOI: 10.1186/s13073-019-0696-9] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
520 Satterstrom FK, Walters RK, Singh T, Wigdor EM, Lescai F, Demontis D, Kosmicki JA, Grove J, Stevens C, Bybjerg-Grauholm J, Bækvad-Hansen M, Palmer DS, Maller JB, Nordentoft M, Mors O, Robinson EB, Hougaard DM, Werge TM, Bo Mortensen P, Neale BM, Børglum AD, Daly MJ; iPSYCH-Broad Consortium. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. Nat Neurosci 2019;22:1961-5. [PMID: 31768057 DOI: 10.1038/s41593-019-0527-8] [Cited by in Crossref: 49] [Cited by in F6Publishing: 38] [Article Influence: 16.3] [Reference Citation Analysis]
521 Scott ER, Bansal V, Meacham C, Scott SA. VarCover: Allele Min-Set Cover Software. J Mol Diagn 2020;22:123-31. [PMID: 31751680 DOI: 10.1016/j.jmoldx.2019.10.005] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
522 Sabbagh R, Van den Veyver IB. The current and future impact of genome-wide sequencing on fetal precision medicine. Hum Genet 2020;139:1121-30. [PMID: 31754893 DOI: 10.1007/s00439-019-02088-4] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
523 Harrison SM, Rehm HL. Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar. Genome Med 2019;11:72. [PMID: 31752965 DOI: 10.1186/s13073-019-0688-9] [Cited by in Crossref: 25] [Cited by in F6Publishing: 20] [Article Influence: 8.3] [Reference Citation Analysis]
524 Stasenko M, Tunnage I, Ashley CW, Rubinstein MM, Latham AJ, Da Cruz Paula A, Mueller JJ, Leitao MM Jr, Friedman CF, Makker V, Soslow RA, DeLair DF, Hyman DM, Zamarin D, Alektiar KM, Aghajanian CA, Abu-Rustum NR, Weigelt B, Cadoo KA. Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer. Gynecol Oncol 2020;156:194-202. [PMID: 31757464 DOI: 10.1016/j.ygyno.2019.10.028] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 4.3] [Reference Citation Analysis]
525 Wilson CL, Wang Z, Liu Q, Ehrhardt MJ, Mostafavi R, Easton J, Mulder H, Hedges DJ, Wang S, Rusch M, Edmonson M, Levy S, Lanctot JQ, Currie K, Lear M, Patel A, Sapkota Y, Brooke RJ, Moon W, Chang TC, Chen W, Kesserwan CA, Wu G, Nichols KE, Hudson MM, Zhang J, Robison LL, Yasui Y. Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants. Pediatr Blood Cancer 2020;67:e28047. [PMID: 31736278 DOI: 10.1002/pbc.28047] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 2.3] [Reference Citation Analysis]
526 Pal LR, Kundu K, Yin Y, Moult J. Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. Hum Mutat 2020;41:347-62. [PMID: 31680375 DOI: 10.1002/humu.23933] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
527 Rosier M, Guedj M, Calvas P, Julia S, Garnier C, Cambon-Thomsen A, Muñoz Sastre MT. Attitudes of French populations towards the disclosure of unsolicited findings in medical genetics. J Health Psychol 2021;26:1767-79. [PMID: 31707852 DOI: 10.1177/1359105319886622] [Reference Citation Analysis]
528 Ross LF, Clayton EW. Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq. Pediatrics 2019;144:e20191031. [PMID: 31719124 DOI: 10.1542/peds.2019-1031] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 3.3] [Reference Citation Analysis]
529 Dombrádi V, Pitini E, van El CG, Jani A, Cornel M, Villari P, Gray M, Bíró K. Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles. BMC Health Serv Res 2019;19:823. [PMID: 31711483 DOI: 10.1186/s12913-019-4703-z] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
530 Khera AV, Mason-Suares H, Brockman D, Wang M, VanDenburgh MJ, Senol-Cosar O, Patterson C, Newton-Cheh C, Zekavat SM, Pester J, Chasman DI, Kabrhel C, Jensen MK, Manson JE, Gaziano JM, Taylor KD, Sotoodehnia N, Post WS, Rich SS, Rotter JI, Lander ES, Rehm HL, Ng K, Philippakis A, Lebo M, Albert CM, Kathiresan S. Rare Genetic Variants Associated With Sudden Cardiac Death in Adults. J Am Coll Cardiol 2019;74:2623-34. [PMID: 31727422 DOI: 10.1016/j.jacc.2019.08.1060] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 5.3] [Reference Citation Analysis]
531 Hersh CP, Campbell EJ, Scott LR, Raby BA. Alpha-1 Antitrypsin Deficiency as an Incidental Finding in Clinical Genetic Testing. Am J Respir Crit Care Med 2019;199:246-8. [PMID: 30359090 DOI: 10.1164/rccm.201809-1679LE] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
532 Lee IH, Negron JA, Hernandez-Ferrer C, Alvarez WJ, Mandl KD, Kong SW. The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. Hum Mutat 2020;41:387-96. [PMID: 31691385 DOI: 10.1002/humu.23942] [Reference Citation Analysis]
533 Abou Tayoun A, Mason-Suares H. Considerations for whole exome sequencing unique to prenatal care. Hum Genet 2020;139:1149-59. [PMID: 31701237 DOI: 10.1007/s00439-019-02085-7] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
534 Sanderson SC, Hill M, Patch C, Searle B, Lewis C, Chitty LS. Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project. BMJ Open 2019;9:e029699. [PMID: 31685495 DOI: 10.1136/bmjopen-2019-029699] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
535 Fujiki R, Ikeda M, Ohara O. Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing. The Journal of Molecular Diagnostics 2019;21:1079-94. [DOI: 10.1016/j.jmoldx.2019.07.003] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
536 Guo S, Goodman M, Kaphingst K. Comparing preferences for return of genome sequencing results assessed with rating and ranking items. J Genet Couns 2020;29:131-4. [PMID: 31663205 DOI: 10.1002/jgc4.1186] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
537 Williams MS, Taylor CO, Walton NA, Goehringer SR, Aronson S, Freimuth RR, Rasmussen LV, Hall ES, Prows CA, Chung WK, Fedotov A, Nestor J, Weng C, Rowley RK, Wiesner GL, Jarvik GP, Del Fiol G. Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network. Front Genet 2019;10:1059. [PMID: 31737042 DOI: 10.3389/fgene.2019.01059] [Cited by in Crossref: 16] [Cited by in F6Publishing: 11] [Article Influence: 5.3] [Reference Citation Analysis]
538 Payne DA, Baluchova K, Russomando G, Ahmad-Nejad P, Mamotte C, Rousseau F, van Schaik RHN, Marriott K, Maekawa M, Chan KCA; IFCC Committee on Molecular Diagnostics. Toward harmonization of clinical molecular diagnostic reports: findings of an international survey. Clin Chem Lab Med 2018;57:78-88. [PMID: 29729139 DOI: 10.1515/cclm-2017-1080] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
539 Ritter DI, Rao S, Kulkarni S, Madhavan S, Offit K, Plon SE. A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). Cold Spring Harb Mol Case Stud 2019;5:a004739. [PMID: 31645350 DOI: 10.1101/mcs.a004739] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
540 Carruth ED, Young W, Beer D, James CA, Calkins H, Jing L, Raghunath S, Hartzel DN, Leader JB, Kirchner HL, Smelser DT, Carey DJ, Kelly MA, Sturm AC, Alsaid A, Fornwalt BK, Haggerty CM. Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes. Circ Genom Precis Med 2019;12:e002579. [PMID: 31638835 DOI: 10.1161/CIRCGEN.119.002579] [Cited by in Crossref: 16] [Cited by in F6Publishing: 9] [Article Influence: 5.3] [Reference Citation Analysis]
541 Liu Z, Zhu L, Roberts R, Tong W. Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We? Trends Genet 2019;35:852-67. [PMID: 31623871 DOI: 10.1016/j.tig.2019.08.006] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 7.3] [Reference Citation Analysis]
542 Shickh S, Clausen M, Mighton C, Gutierrez Salazar M, Zakoor KR, Kodida R, Reble E, Elser C, Eisen A, Panchal S, Aronson M, Graham T, Armel SR, Morel CF, Fattouh R, Glogowski E, Schrader KA, Hamilton JG, Offit K, Robson M, Carroll JC, Isaranuwatchai W, Kim RH, Lerner-Ellis J, Thorpe KE, Laupacis A, Bombard Y; Incidental Genomics Study Team. Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial. BMJ Open 2019;9:e031092. [PMID: 31594892 DOI: 10.1136/bmjopen-2019-031092] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
543 Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM. Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. PLoS Genet 2019;15:e1008409. [PMID: 31589614 DOI: 10.1371/journal.pgen.1008409] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
544 American College of Medical Genetics and Genomics’ Board of Directors. Response to Gomy and Garber. Genet Med 2020;22:443. [PMID: 31578473 DOI: 10.1038/s41436-019-0661-4] [Reference Citation Analysis]
545 Chaudhari BP, Manickam K, McBride KL. A pediatric perspective on genomics and prevention in the twenty-first century. Pediatr Res 2020;87:338-44. [PMID: 31578042 DOI: 10.1038/s41390-019-0597-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
546 Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation 2018;138:e653-711. [PMID: 30571578 DOI: 10.1161/CIR.0000000000000606] [Cited by in Crossref: 125] [Cited by in F6Publishing: 60] [Article Influence: 41.7] [Reference Citation Analysis]
547 Schmidlen T, Schwartz M, DiLoreto K, Kirchner HL, Sturm AC. Patient assessment of chatbots for the scalable delivery of genetic counseling. J Genet Couns 2019;28:1166-77. [PMID: 31549758 DOI: 10.1002/jgc4.1169] [Cited by in Crossref: 38] [Cited by in F6Publishing: 27] [Article Influence: 12.7] [Reference Citation Analysis]
548 Haggerty CM, Murray B, Tichnell C, Judge DP, Tandri H, Schwartz M, Sturm AC, Matsumura ME, Murray MF, Calkins H, Fornwalt BK, James CA. Managing Secondary Genomic Findings Associated With Arrhythmogenic Right Ventricular Cardiomyopathy: Case Studies and Proposal for Clinical Surveillance. Circ Genom Precis Med 2018;11:e002237. [PMID: 29997227 DOI: 10.1161/CIRCGEN.118.002237] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.7] [Reference Citation Analysis]
549 Elbracht M, Meyer R, Eggermann T, Kurth I. [Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics]. Internist (Berl) 2018;59:756-65. [PMID: 29946883 DOI: 10.1007/s00108-018-0457-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
550 Caspar SM, Dubacher N, Kopps AM, Meienberg J, Henggeler C, Matyas G. Clinical sequencing: From raw data to diagnosis with lifetime value. Clin Genet 2018;93:508-19. [PMID: 29206278 DOI: 10.1111/cge.13190] [Cited by in Crossref: 47] [Cited by in F6Publishing: 38] [Article Influence: 15.7] [Reference Citation Analysis]
551 Loveday C, Josephs K, Chubb D, Gunning A, Izatt L, Tischkowitz M, Ellard S, Turnbull C. p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer. J Clin Endocrinol Metab 2018;103:4275-82. [PMID: 29590403 DOI: 10.1210/jc.2017-02529] [Cited by in Crossref: 16] [Cited by in F6Publishing: 18] [Article Influence: 5.3] [Reference Citation Analysis]
552 Montier L, Haneef Z, Gavvala J, Yoshor D, North R, Verla T, Van Ness PC, Drabek J, Goldman AM. A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes. Epilepsia 2019;60:e104-9. [PMID: 31489630 DOI: 10.1111/epi.16328] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
553 Gordon AS, Rosenthal EA, Carrell DS, Amendola LM, Dorschner MO, Scrol A, Stanaway IB, DeVange S, Ralston JD, Zouk H, Rehm HL, Larson E, Crosslin DR, Leppig KA, Jarvik GP. Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting. Am J Hum Genet 2019;105:526-33. [PMID: 31422818 DOI: 10.1016/j.ajhg.2019.07.012] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
554 Sugunaraj JP, Brosius HM, Murray MF, Manickam K, Stamm JA, Carey DJ, Mirshahi UL. Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records. NPJ Genom Med 2019;4:21. [PMID: 31508243 DOI: 10.1038/s41525-019-0095-6] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
555 Sun L, Pfeifer JD. Pitfalls in molecular diagnostics. Seminars in Diagnostic Pathology 2019;36:342-54. [DOI: 10.1053/j.semdp.2019.06.002] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
556 Wang Z, Wilson CL, Armstrong GT, Hudson MM, Zhang J, Nichols KE, Robison LL. Association of Germline BRCA2 Mutations With the Risk of Pediatric or Adolescent Non-Hodgkin Lymphoma. JAMA Oncol 2019;5:1362-4. [PMID: 31343663 DOI: 10.1001/jamaoncol.2019.2203] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]
557 Deleonardis K, Hogan L, Cannistra SA, Rangachari D, Tung N. When Should Tumor Genomic Profiling Prompt Consideration of Germline Testing? JOP 2019;15:465-73. [DOI: 10.1200/jop.19.00201] [Cited by in Crossref: 21] [Cited by in F6Publishing: 5] [Article Influence: 7.0] [Reference Citation Analysis]
558 Sturm AC, Knowles JW, Gidding SS, Ahmad ZS, Ahmed CD, Ballantyne CM, Baum SJ, Bourbon M, Carrié A, Cuchel M, de Ferranti SD, Defesche JC, Freiberger T, Hershberger RE, Hovingh GK, Karayan L, Kastelein JJP, Kindt I, Lane SR, Leigh SE, Linton MF, Mata P, Neal WA, Nordestgaard BG, Santos RD, Harada-Shiba M, Sijbrands EJ, Stitziel NO, Yamashita S, Wilemon KA, Ledbetter DH, Rader DJ; Convened by the Familial Hypercholesterolemia Foundation. Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. J Am Coll Cardiol 2018;72:662-80. [PMID: 30071997 DOI: 10.1016/j.jacc.2018.05.044] [Cited by in Crossref: 174] [Cited by in F6Publishing: 126] [Article Influence: 58.0] [Reference Citation Analysis]
559 Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E; All of Us Research Program Investigators. The "All of Us" Research Program. N Engl J Med 2019;381:668-76. [PMID: 31412182 DOI: 10.1056/NEJMsr1809937] [Cited by in Crossref: 233] [Cited by in F6Publishing: 100] [Article Influence: 77.7] [Reference Citation Analysis]
560 Ko JM, Ning L, Zhao XK, Chai AWY, Lei LC, Choi SSA, Tao L, Law S, Kwong A, Lee NP, Chan KT, Lo A, Song X, Chen PN, Chang YL, Wang LD, Lung ML. BRCA2 loss-of-function germline mutations are associated with esophageal squamous cell carcinoma risk in Chinese. Int J Cancer. 2020;146:1042-1051. [PMID: 31396961 DOI: 10.1002/ijc.32619] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 3.7] [Reference Citation Analysis]
561 Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK; SPARK Consortium. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med 2019;4:19. [PMID: 31452935 DOI: 10.1038/s41525-019-0093-8] [Cited by in Crossref: 76] [Cited by in F6Publishing: 53] [Article Influence: 25.3] [Reference Citation Analysis]
562 Edmonson MN, Patel AN, Hedges DJ, Wang Z, Rampersaud E, Kesserwan CA, Zhou X, Liu Y, Newman S, Rusch MC, McLeod CL, Wilkinson MR, Rice SV, Soussi T, Taylor JP, Benatar M, Becksfort JB, Nichols KE, Robison LL, Downing JR, Zhang J. Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. Genome Res 2019;29:1555-65. [PMID: 31439692 DOI: 10.1101/gr.250357.119] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 3.3] [Reference Citation Analysis]
563 Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB; ClinGen Resource. Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. Hum Mutat 2018;39:1677-85. [PMID: 30311382 DOI: 10.1002/humu.23631] [Cited by in Crossref: 20] [Cited by in F6Publishing: 13] [Article Influence: 6.7] [Reference Citation Analysis]
564 Thiffault I, Cadieux-Dion M, Farrow E, Caylor R, Miller N, Soden S, Saunders C. On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing. Hum Mutat 2018;39:1505-16. [PMID: 30311385 DOI: 10.1002/humu.23646] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
565 Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres. BMC Med Genomics 2019;12:123. [PMID: 31429751 DOI: 10.1186/s12920-019-0561-0] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
566 Clark DF, Maxwell KN, Powers J, Lieberman DB, Ebrahimzadeh J, Long JM, McKenna D, Shah P, Bradbury A, Morrissette JJD, Nathanson KL, Domchek SM. Identification and Confirmation of Potentially Actionable Germline Mutations in Tumor-Only Genomic Sequencing. JCO Precis Oncol 2019;3. [PMID: 31511844 DOI: 10.1200/PO.19.00076] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
567 Niu X, Amendola LM, Hart R, Bennette CS, Heagerty P, Horike-Pyne M, Trinidad SB, Rosenthal EA, Comstock B, Nefcy C, Hisama FM, Bennett RL, Grady WM, Gallego CJ, Tarczy-Hornoch P, Fullerton SM, Burke W, Regier DA, Dorschner MO, Shirts BH, Robertson PD, Nickerson DA, Patrick DL, Jarvik GP, Veenstra DL. Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. Contemp Clin Trials 2019;84:105820. [PMID: 31400517 DOI: 10.1016/j.cct.2019.105820] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
568 Yang HT, Shah RH, Tegay D, Onel K. Precision oncology: lessons learned and challenges for the future. Cancer Manag Res 2019;11:7525-36. [PMID: 31616176 DOI: 10.2147/CMAR.S201326] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
569 Kiyozumi Y, Matsubayashi H, Horiuchi Y, Higashigawa S, Oishi T, Abe M, Ohnami S, Urakami K, Nagashima T, Kusuhara M, Miyake H, Yamaguchi K. Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients. Cancer Med. 2019;8:5534-5543. [PMID: 31386297 DOI: 10.1002/cam4.2432] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
570 Fuse N, Sakurai-Yageta M, Katsuoka F, Danjoh I, Shimizu R, Tamiya G, Nagami F, Kawame H, Higuchi S, Kinoshita K, Kure S, Yamamoto M. Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project. JMA J 2019;2:113-22. [PMID: 33615021 DOI: 10.31662/jmaj.2019-0014] [Cited by in Crossref: 7] [Cited by in F6Publishing: 3] [Article Influence: 2.3] [Reference Citation Analysis]
571 Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, Béroud C, Salgado D. VarAFT: a variant annotation and filtration system for human next generation sequencing data. Nucleic Acids Res 2018;46:W545-53. [PMID: 29860484 DOI: 10.1093/nar/gky471] [Cited by in Crossref: 57] [Cited by in F6Publishing: 57] [Article Influence: 19.0] [Reference Citation Analysis]
572 Manolio TA, Rowley R, Williams MS, Roden D, Ginsburg GS, Bult C, Chisholm RL, Deverka PA, McLeod HL, Mensah GA, Relling MV, Rodriguez LL, Tamburro C, Green ED. Opportunities, resources, and techniques for implementing genomics in clinical care. Lancet 2019;394:511-20. [PMID: 31395439 DOI: 10.1016/S0140-6736(19)31140-7] [Cited by in Crossref: 29] [Cited by in F6Publishing: 13] [Article Influence: 9.7] [Reference Citation Analysis]
573 Wise AL, Manolio TA, Mensah GA, Peterson JF, Roden DM, Tamburro C, Williams MS, Green ED. Genomic medicine for undiagnosed diseases. Lancet 2019;394:533-40. [PMID: 31395441 DOI: 10.1016/S0140-6736(19)31274-7] [Cited by in Crossref: 31] [Cited by in F6Publishing: 12] [Article Influence: 10.3] [Reference Citation Analysis]
574 Peterson JF, Roden DM, Orlando LA, Ramirez AH, Mensah GA, Williams MS. Building evidence and measuring clinical outcomes for genomic medicine. Lancet 2019;394:604-10. [PMID: 31395443 DOI: 10.1016/S0140-6736(19)31278-4] [Cited by in Crossref: 25] [Cited by in F6Publishing: 7] [Article Influence: 8.3] [Reference Citation Analysis]
575 Thodeson DM, Park JY. Genomic testing in pediatric epilepsy. Cold Spring Harb Mol Case Stud 2019;5:a004135. [PMID: 31371349 DOI: 10.1101/mcs.a004135] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
576 Luykx JJ, van der Spek R, van Veen S, Lo-a-foe W, Giesbertz NAA, Bredenoord AL, Palmboom GG. Unconsented genetic testing in psychiatry: an (almost) no go? The Lancet Psychiatry 2019;6:641-2. [DOI: 10.1016/s2215-0366(19)30206-8] [Reference Citation Analysis]
577 Schwarze K, Buchanan J, Fermont JM, Dreau H, Tilley MW, Taylor JM, Antoniou P, Knight SJL, Camps C, Pentony MM, Kvikstad EM, Harris S, Popitsch N, Pagnamenta AT, Schuh A, Taylor JC, Wordsworth S. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet Med 2020;22:85-94. [PMID: 31358947 DOI: 10.1038/s41436-019-0618-7] [Cited by in Crossref: 42] [Cited by in F6Publishing: 39] [Article Influence: 14.0] [Reference Citation Analysis]
578 Newey PJ. Clinical genetic testing in endocrinology: Current concepts and contemporary challenges. Clin Endocrinol 2019;91:587-607. [DOI: 10.1111/cen.14053] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
579 Kerr SM, Klaric L, Halachev M, Hayward C, Boutin TS, Meynert AM, Semple CA, Tuiskula AM, Swan H, Santoyo-Lopez J, Vitart V, Haley C, Dean J, Miedzybrodzka Z, Aitman TJ, Wilson JF. An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort. Sci Rep 2019;9:10964. [PMID: 31358886 DOI: 10.1038/s41598-019-47436-6] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
580 Arsov T, Xie C, Shen N, Andrews D, Vinuesa CG, Vaskova O. Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones. Thyroid Res 2019;12:7. [PMID: 31341516 DOI: 10.1186/s13044-019-0068-y] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
581 Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Hereditary Neuropathies. Dtsch Arztebl Int 2018;115:91-7. [PMID: 29478438 DOI: 10.3238/arztebl.2018.0091] [Cited by in Crossref: 8] [Cited by in F6Publishing: 14] [Article Influence: 2.7] [Reference Citation Analysis]
582 Brunham LR, Ruel I, Aljenedil S, Rivière JB, Baass A, Tu JV, Mancini GBJ, Raggi P, Gupta M, Couture P, Pearson GJ, Bergeron J, Francis GA, McCrindle BW, Morrison K, St-Pierre J, Henderson M, Hegele RA, Genest J, Goguen J, Gaudet D, Paré G, Romney J, Ransom T, Bernard S, Katz P, Joy TR, Bewick D, Brophy J. Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018. Can J Cardiol 2018;34:1553-63. [PMID: 30527143 DOI: 10.1016/j.cjca.2018.09.005] [Cited by in Crossref: 51] [Cited by in F6Publishing: 42] [Article Influence: 17.0] [Reference Citation Analysis]
583 Patch C, Middleton A. Genetic counselling in the era of genomic medicine. Br Med Bull 2018;126:27-36. [PMID: 29617718 DOI: 10.1093/bmb/ldy008] [Cited by in Crossref: 32] [Cited by in F6Publishing: 28] [Article Influence: 10.7] [Reference Citation Analysis]
584 Kleiderman E, Ravitsky V, Knoppers BM. The 'serious' factor in germline modification. J Med Ethics 2019;45:508-13. [PMID: 31326898 DOI: 10.1136/medethics-2019-105436] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 2.7] [Reference Citation Analysis]
585 Yu JH, Appelbaum PS, Brothers KB, Joffe S, Kauffman TL, Koenig BA, Prince AE, Scollon S, Wolf SM, Bernhardt BA, Wilfond BS; Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group. Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium. Per Med 2019;16:325-33. [PMID: 31313633 DOI: 10.2217/pme-2018-0076] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
586 Asif S, Fatima R, Krc R, Bennett J, Raza S. Comparative proteogenomic characterization of glioblastoma. CNS Oncol 2019;8:CNS37. [PMID: 31290679 DOI: 10.2217/cns-2019-0003] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
587 Puckelwartz MJ. The Missing LINC for Genetic Cardiovascular Disease? Circ Cardiovasc Genet 2017;10:e001793. [PMID: 28611034 DOI: 10.1161/CIRCGENETICS.117.001793] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
588 Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, Hutchinson L, McLaughlin H, Green RC, Lebo M, Rehm HL; MedSeq Project. Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project. Am J Hum Genet 2019;105:177-88. [PMID: 31256874 DOI: 10.1016/j.ajhg.2019.05.017] [Cited by in Crossref: 21] [Cited by in F6Publishing: 18] [Article Influence: 7.0] [Reference Citation Analysis]
589 Hellwig LD, Turner C, O'Neill SC. Patient-centered care and genomic medicine: A qualitative provider study in the military health system. J Genet Couns 2019;28:940-9. [PMID: 31240828 DOI: 10.1002/jgc4.1144] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
590 Nussbaum RL, Haverfield E, Esplin ED, Aradhya S. Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)". Genet Med 2019;21:2836-7. [PMID: 31239557 DOI: 10.1038/s41436-019-0572-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
591 Bope CD, Chimusa ER, Nembaware V, Mazandu GK, de Vries J, Wonkam A. Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives. Front Genet 2019;10:601. [PMID: 31293624 DOI: 10.3389/fgene.2019.00601] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]
592 Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC. High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer. NPJ Genom Med 2019;4:13. [PMID: 31263571 DOI: 10.1038/s41525-019-0087-6] [Cited by in Crossref: 25] [Cited by in F6Publishing: 23] [Article Influence: 8.3] [Reference Citation Analysis]
593 Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE. FBN1 Coding Variants and Nonsyndromic Aortic Disease. Circ Genom Precis Med 2019;12:e002454. [PMID: 31211626 DOI: 10.1161/CIRCGEN.119.002454] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]
594 Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 2019;21:2413-21. [PMID: 31182824 DOI: 10.1038/s41436-019-0554-6] [Cited by in Crossref: 133] [Cited by in F6Publishing: 110] [Article Influence: 44.3] [Reference Citation Analysis]
595 Isidor B, Julia S, Saugier-Veber P, Weil-Dubuc PL, Bézieau S, Bieth E, Bonnefont JP, Munnich A, Bourdeaut F, Bourgain C, Chassaing N, Corradini N, Haye D, Plaisancie J, Dupin-Deguine D, Calvas P, Mignot C, Cogné B, Manouvrier S, Pasquier L, Héron D, Boycott KM, Turrini M, Vears DF, Nizon M, Vincent M. Searching for secondary findings: considering actionability and preserving the right not to know. Eur J Hum Genet 2019;27:1481-4. [PMID: 31186543 DOI: 10.1038/s41431-019-0438-x] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
596 Hansen TF, Banasik K, Erikstrup C, Pedersen OB, Westergaard D, Chmura PJ, Nielsen K, Thørner L, Hjalgrim H, Paarup H, Larsen MAH, Petersen M, Jennum P, Andersen S, Nyegaard M, Jemec GBE, Olesen J, Werge T, Johansson PI, Sørensen E, Brunak S, Ullum H, Burgdorf KS. DBDS Genomic Cohort, a prospective and comprehensive resource for integrative and temporal analysis of genetic, environmental and lifestyle factors affecting health of blood donors. BMJ Open 2019;9:e028401. [PMID: 31182452 DOI: 10.1136/bmjopen-2018-028401] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 3.7] [Reference Citation Analysis]
597 Bylstra Y, Davila S, Lim WK, Wu R, Teo JX, Kam S, Lysaght T, Rozen S, Teh BT, Yeo KK, Cook SA, Tan P, Jamuar SS. Implementation of genomics in medical practice to deliver precision medicine for an Asian population. NPJ Genom Med 2019;4:12. [PMID: 31231544 DOI: 10.1038/s41525-019-0085-8] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 3.3] [Reference Citation Analysis]
598 Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. Am J Hum Genet 2019;104:1182-201. [PMID: 31130284 DOI: 10.1016/j.ajhg.2019.04.011] [Cited by in Crossref: 100] [Cited by in F6Publishing: 87] [Article Influence: 33.3] [Reference Citation Analysis]
599 Bogard N, Linder J, Rosenberg AB, Seelig G. A Deep Neural Network for Predicting and Engineering Alternative Polyadenylation. Cell 2019;178:91-106.e23. [PMID: 31178116 DOI: 10.1016/j.cell.2019.04.046] [Cited by in Crossref: 51] [Cited by in F6Publishing: 32] [Article Influence: 17.0] [Reference Citation Analysis]
600 Crawford DC, Cooke Bailey JN, Briggs FBS. Mind the gap: resources required to receive, process and interpret research-returned whole genome data. Hum Genet 2019;138:691-701. [PMID: 31161416 DOI: 10.1007/s00439-019-02033-5] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
601 Tsaousis GN, Papadopoulou E, Apessos A, Agiannitopoulos K, Pepe G, Kampouri S, Diamantopoulos N, Floros T, Iosifidou R, Katopodi O, Koumarianou A, Markopoulos C, Papazisis K, Venizelos V, Xanthakis I, Xepapadakis G, Banu E, Eniu DT, Negru S, Stanculeanu DL, Ungureanu A, Ozmen V, Tansan S, Tekinel M, Yalcin S, Nasioulas G. Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. BMC Cancer 2019;19:535. [PMID: 31159747 DOI: 10.1186/s12885-019-5756-4] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 6.3] [Reference Citation Analysis]
602 Ahmad F, Mcnally EM, Ackerman MJ, Baty LC, Day SM, Kullo IJ, Madueme PC, Maron MS, Martinez MW, Salberg L, Taylor MR, Wilcox JE; On behalf of the American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Basic Cardiovascular Sciences; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Stroke Council. Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association. Circ: Genomic and Precision Medicine 2019;12. [DOI: 10.1161/hcg.0000000000000054] [Cited by in Crossref: 23] [Cited by in F6Publishing: 10] [Article Influence: 7.7] [Reference Citation Analysis]
603 Azad A, Poloni G, Sontayananon N, Jiang H, Gehmlich K. The giant titin: how to evaluate its role in cardiomyopathies. J Muscle Res Cell Motil 2019;40:159-67. [PMID: 31147888 DOI: 10.1007/s10974-019-09518-w] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
604 Ida K, Miyamoto T, Higuchi S, Takeuchi H, Yamada S, Ono M, Nishihara H, Shiozawa T. Effectiveness of a genetic test panel designed for gynecological cancer: an exploratory study. Med Oncol 2019;36. [DOI: 10.1007/s12032-019-1286-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
605 Mikhail FM, Biegel JA, Cooley LD, Dubuc AM, Hirsch B, Horner VL, Newman S, Shao L, Wolff DJ, Raca G. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). Genet Med 2019;21:1903-16. [PMID: 31138931 DOI: 10.1038/s41436-019-0545-7] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
606 Kullo IJ, Olson J, Fan X, Jose M, Safarova M, Radecki Breitkopf C, Winkler E, Kochan DC, Snipes S, Pacyna JE, Carney M, Chute CG, Gupta J, Jose S, Venner E, Murugan M, Jiang Y, Zordok M, Farwati M, Philogene M, Smith E, Shaibi GQ, Caraballo P, Freimuth R, Lindor NM, Sharp R, Thibodeau SN. The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. Mayo Clin Proc 2018;93:1600-10. [PMID: 30392543 DOI: 10.1016/j.mayocp.2018.06.026] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 6.0] [Reference Citation Analysis]
607 Henrikson NB, Blasi PR, Corsmo JJ, Sheffer Serdoz E, Scrol A, Greene SM, Matthews TL, Ralston JD. "You Really Do Have to Know the Local Context": IRB Administrators and Researchers on the Implications of the NIH Single IRB Mandate for Multisite Genomic Studies. J Empir Res Hum Res Ethics 2019;14:286-95. [PMID: 31113270 DOI: 10.1177/1556264619850440] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
608 Bradbury AR. Implementation of Precision Cancer Medicine: Progress and the Path to Realizing the Promise of Tumor Sequencing. J Oncol Pract 2019;15:297-9. [PMID: 31112480 DOI: 10.1200/JOP.19.00176] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
609 Demos M, Guella I, DeGuzman C, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova R, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. Front Neurol 2019;10:434. [PMID: 31164858 DOI: 10.3389/fneur.2019.00434] [Cited by in Crossref: 31] [Cited by in F6Publishing: 22] [Article Influence: 10.3] [Reference Citation Analysis]
610 Stasenko M, Cybulska P, Feit N, Makker V, Konner J, O'Cearbhaill RE, Alektiar KM, Beal K, Gardner GJ, Long Roche KC, Sonoda Y, Chi DS, Zivanovic O, Leitao MM Jr, Cadoo KA, Tew WP. Brain metastasis in epithelial ovarian cancer by BRCA1/2 mutation status. Gynecol Oncol 2019;154:144-9. [PMID: 31113680 DOI: 10.1016/j.ygyno.2019.05.004] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
611 Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM 3rd, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16:e301-e372. [PMID: 31078652 DOI: 10.1016/j.hrthm.2019.05.007] [Cited by in Crossref: 152] [Cited by in F6Publishing: 124] [Article Influence: 50.7] [Reference Citation Analysis]
612 Schüssler-Fiorenza Rose SM, Contrepois K, Moneghetti KJ, Zhou W, Mishra T, Mataraso S, Dagan-Rosenfeld O, Ganz AB, Dunn J, Hornburg D, Rego S, Perelman D, Ahadi S, Sailani MR, Zhou Y, Leopold SR, Chen J, Ashland M, Christle JW, Avina M, Limcaoco P, Ruiz C, Tan M, Butte AJ, Weinstock GM, Slavich GM, Sodergren E, McLaughlin TL, Haddad F, Snyder MP. A longitudinal big data approach for precision health. Nat Med 2019;25:792-804. [PMID: 31068711 DOI: 10.1038/s41591-019-0414-6] [Cited by in Crossref: 151] [Cited by in F6Publishing: 116] [Article Influence: 50.3] [Reference Citation Analysis]
613 Schmidtke J, Wittkowski K, Glaubitz R. NGS-Based genetic testing for heritable cardiovascular diseases. Specific requirements for obtaining informed consent. Mol Cell Probes 2019;45:70-8. [PMID: 31059777 DOI: 10.1016/j.mcp.2019.04.005] [Reference Citation Analysis]
614 Reuter C, Chun N, Pariani M, Hanson-Kahn A. Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient. J Genet Couns 2019;28:878-86. [PMID: 31050105 DOI: 10.1002/jgc4.1130] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
615 Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz AE, Huryn LA, Hufnagel RB, Camper SA, Richards JE, Prasov L; Genomic Ascertainment Cohort. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PLoS Genet 2019;15:e1008130. [PMID: 31048900 DOI: 10.1371/journal.pgen.1008130] [Cited by in Crossref: 27] [Cited by in F6Publishing: 19] [Article Influence: 9.0] [Reference Citation Analysis]
616 Sullivan HK, Berkman BE. Incidental Findings in Low-Resource Settings. Hastings Cent Rep 2018;48:20-8. [PMID: 29806893 DOI: 10.1002/hast.851] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
617 You YN, Borras E, Chang K, Price BA, Mork M, Chang GJ, Rodriguez-Bigas MA, Bednarski BK, Meric-Bernstam F, Vilar E. Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine. Dis Colon Rectum 2019;62:429-37. [PMID: 30730459 DOI: 10.1097/DCR.0000000000001322] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 3.7] [Reference Citation Analysis]
618 Kiryluk K, Goldstein DB, Rowe JW, Gharavi AG, Wapner R, Chung WK. Precision Medicine in Internal Medicine. Ann Intern Med 2019;170:635-42. [PMID: 31035290 DOI: 10.7326/M18-0425] [Cited by in Crossref: 9] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
619 Trottier AM, Cavalcante de Andrade Silva M, Li Z, Godley LA. Somatic mutation panels: Time to clear their names. Cancer Genet 2019;235-236:84-92. [PMID: 31101556 DOI: 10.1016/j.cancergen.2019.04.065] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 3.3] [Reference Citation Analysis]
620 ACMG Board of Directors. The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2019;21:1467-8. [PMID: 31019278 DOI: 10.1038/s41436-019-0502-5] [Cited by in Crossref: 30] [Cited by in F6Publishing: 21] [Article Influence: 10.0] [Reference Citation Analysis]
621 Talukdar S, Hawkes L, Hanson H, Kulkarni A, Brady AF, Mcmullan DJ, Ahn JW, Woodward E, Turnbull C. Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs). J Med Genet 2019;56:718-26. [DOI: 10.1136/jmedgenet-2018-105820] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
622 Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vitobello A, Sorlin A, Tran Mau-Them F, Philippe C, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze JF, Verstuyft C, Duffourd Y, Faivre L. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. Eur J Hum Genet 2019;27:1197-214. [PMID: 31019283 DOI: 10.1038/s41431-019-0384-7] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
623 Yost S, Ruark E, Alexandrov LB, Rahman N. Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers. JNCI Cancer Spectr 2019;3:pkz028. [PMID: 31360904 DOI: 10.1093/jncics/pkz028] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 1.7] [Reference Citation Analysis]
624 Viberg Johansson J, Langenskiöld S, Segerdahl P, Hansson MG, Hösterey UU, Gummesson A, Veldwijk J. Research participants' preferences for receiving genetic risk information: a discrete choice experiment. Genet Med 2019;21:2381-9. [PMID: 30992550 DOI: 10.1038/s41436-019-0511-4] [Cited by in Crossref: 8] [Cited by in F6Publishing: 4] [Article Influence: 2.7] [Reference Citation Analysis]
625 Dumbrava EI, Brusco L, Daniels M, Wathoo C, Shaw K, Lu K, Zheng X, Strong L, Litton J, Arun B, Eterovic AK, Routbort M, Patel K, Qi Y, Piha-Paul S, Subbiah V, Hong D, Rodon J, Kopetz S, Mendelsohn J, Mills GB, Chen K, Meric-Bernstam F. Expanded analysis of secondary germline findings from matched tumor/normal sequencing identifies additional clinically significant mutations. JCO Precis Oncol 2019;3. [PMID: 31517177 DOI: 10.1200/PO.18.00143] [Cited by in Crossref: 1] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
626 Radio FC, Ruzzeddu M, Bartuli A, Novelli A, Tartaglia M, Dallapiccola B. Cost-effectiveness of exome sequencing: an Italian pilot study on undiagnosed patients. New Genetics and Society 2019;38:249-63. [DOI: 10.1080/14636778.2019.1601008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
627 Martinez-Martin N, Magnus D. Privacy and ethical challenges in next-generation sequencing. Expert Rev Precis Med Drug Dev 2019;4:95-104. [PMID: 32775691 DOI: 10.1080/23808993.2019.1599685] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
628 Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. CMAJ 2018;190:E126-36. [PMID: 29431110 DOI: 10.1503/cmaj.171151] [Cited by in Crossref: 34] [Cited by in F6Publishing: 26] [Article Influence: 11.3] [Reference Citation Analysis]
629 Pendrick DM, Oberg JA, Hsiao SJ, Chung WK, Koval C, Sireci A, Kuo JH, Satwani P, Glasser CL, Sulis ML, Mansukhani MM, Glade Bender JL. Identification of a secondary RET mutation in a pediatric patient with relapsed acute myeloid leukemia leads to the diagnosis and treatment of asymptomatic metastatic medullary thyroid cancer in a parent: a case for sequencing the germline. Cold Spring Harb Mol Case Stud 2019;5:a003889. [PMID: 30936199 DOI: 10.1101/mcs.a003889] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]
630 Sunami K, Ichikawa H, Kubo T, Kato M, Fujiwara Y, Shimomura A, Koyama T, Kakishima H, Kitami M, Matsushita H, Furukawa E, Narushima D, Nagai M, Taniguchi H, Motoi N, Sekine S, Maeshima A, Mori T, Watanabe R, Yoshida M, Yoshida A, Yoshida H, Satomi K, Sukeda A, Hashimoto T, Shimizu T, Iwasa S, Yonemori K, Kato K, Morizane C, Ogawa C, Tanabe N, Sugano K, Hiraoka N, Tamura K, Yoshida T, Fujiwara Y, Ochiai A, Yamamoto N, Kohno T. Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study. Cancer Sci 2019;110:1480-90. [PMID: 30742731 DOI: 10.1111/cas.13969] [Cited by in Crossref: 73] [Cited by in F6Publishing: 64] [Article Influence: 24.3] [Reference Citation Analysis]
631 Huang CJ, Bandettini WP, Danis M. Returning Individual Research Results Regarding Gadolinium Deposition in the Brain Is the Preferable Choice. Am J Bioeth 2019;19:77-8. [PMID: 31544659 DOI: 10.1080/15265161.2019.1572829] [Reference Citation Analysis]
632 Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harb Mol Case Stud 2019;5:a003756. [PMID: 30755392 DOI: 10.1101/mcs.a003756] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 5.0] [Reference Citation Analysis]
633 Hylind RJ, Chandler SF, Beausejour Ladouceur V, Roberts AE, Bezzerides V, Christensen KD, Coggins M, Lakdawala NK, MacRae CA, Abrams DJ. Phenotypic Characterization of Individuals With Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication for Testing. Circ Genom Precis Med 2019;12:e002463. [PMID: 30919684 DOI: 10.1161/CIRCGEN.119.002463] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
634 Westphal DS, Leszinski GS, Rieger‐fackeldey E, Graf E, Weirich G, Meitinger T, Ostermayer E, Oberhoffer R, Wagner M. Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing. Clin Genet 2019;95:582-9. [DOI: 10.1111/cge.13536] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
635 Yehia L, Eng C. Largescale population genomics versus deep phenotyping: Brute force or elegant pragmatism towards precision medicine. NPJ Genom Med 2019;4:6. [PMID: 30937181 DOI: 10.1038/s41525-019-0080-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 2.3] [Reference Citation Analysis]
636 Fiala C, Taher J, Diamandis EP. Benefits and harms of wellness initiatives. Clinical Chemistry and Laboratory Medicine (CCLM) 2019;57:1494-500. [DOI: 10.1515/cclm-2019-0122] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
637 Erger F, Schaaf CP, Netzer C. Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. Mol Cell Probes 2019;45:84-8. [PMID: 30914295 DOI: 10.1016/j.mcp.2019.03.006] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
638 Beaubier N, Tell R, Lau D, Parsons JR, Bush S, Perera J, Sorrells S, Baker T, Chang A, Michuda J, Iguartua C, MacNeil S, Shah K, Ellis P, Yeatts K, Mahon B, Taxter T, Bontrager M, Khan A, Huether R, Lefkofsky E, White KP. Clinical validation of the tempus xT next-generation targeted oncology sequencing assay. Oncotarget 2019;10:2384-96. [PMID: 31040929 DOI: 10.18632/oncotarget.26797] [Cited by in Crossref: 38] [Cited by in F6Publishing: 29] [Article Influence: 12.7] [Reference Citation Analysis]
639 Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med 2019;21:2135-44. [PMID: 30890783 DOI: 10.1038/s41436-019-0475-4] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 3.7] [Reference Citation Analysis]
640 Thompson J, Vogel Postula K, Wong K, Spencer S. Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening. J Genet Couns 2019;28:908-14. [PMID: 30888734 DOI: 10.1002/jgc4.1118] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
641 Zhernakova DV, Brukhin V, Malov S, Oleksyk TK, Koepfli KP, Zhuk A, Dobrynin P, Kliver S, Cherkasov N, Tamazian G, Rotkevich M, Krasheninnikova K, Evsyukov I, Sidorov S, Gorbunova A, Chernyaeva E, Shevchenko A, Kolchanova S, Komissarov A, Simonov S, Antonik A, Logachev A, Polev DE, Pavlova OA, Glotov AS, Ulantsev V, Noskova E, Davydova TK, Sivtseva TM, Limborska S, Balanovsky O, Osakovsky V, Novozhilov A, Puzyrev V, O'Brien SJ. Genome-wide sequence analyses of ethnic populations across Russia. Genomics 2020;112:442-58. [PMID: 30902755 DOI: 10.1016/j.ygeno.2019.03.007] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
642 Wong CS, Kogon AJ, Warady BA, Furth SL, Lantos JD, Wilfond BS. Ethical and Policy Considerations for Genomic Testing in Pediatric Research: The Path Toward Disclosing Individual Research Results. Am J Kidney Dis 2019;73:837-45. [PMID: 30879919 DOI: 10.1053/j.ajkd.2019.01.020] [Reference Citation Analysis]
643 Schmidt JL, Maas R, Altmeyer SR. Genetic counseling for consumer‐driven whole exome and whole genome sequencing: A commentary on early experiences. J Genet Couns 2019. [DOI: 10.1002/jgc4.1109] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
644 Bilkey GA, Burns BL, Coles EP, Bowman FL, Beilby JP, Pachter NS, Baynam G, J S Dawkins H, Nowak KJ, Weeramanthri TS. Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges. Front Public Health 2019;7:40. [PMID: 30915323 DOI: 10.3389/fpubh.2019.00040] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
645 Lin PC, Yeh YM, Wu PY, Hsu KF, Chang JY, Shen MR. Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer. Sci Rep 2019;9:3931. [PMID: 30850667 DOI: 10.1038/s41598-019-40571-0] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 3.3] [Reference Citation Analysis]
646 Mighton C, Carlsson L, Clausen M, Casalino S, Shickh S, McCuaig L, Joshi E, Panchal S, Graham T, Aronson M, Piccinin C, Winter-Paquette L, Semotiuk K, Lorentz J, Mancuso T, Ott K, Silberman Y, Elser C, Eisen A, Kim RH, Lerner-Ellis J, Carroll JC, Glogowski E, Schrader K, Bombard Y; Incidental Genomics Study Team. Development of patient "profiles" to tailor counseling for incidental genomic sequencing results. Eur J Hum Genet 2019;27:1008-17. [PMID: 30846854 DOI: 10.1038/s41431-019-0352-2] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
647 Grody WW. The transformation of medical genetics by clinical genomics: hubris meets humility. Genet Med 2019;21:1916-26. [PMID: 30842646 DOI: 10.1038/s41436-019-0450-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 1.7] [Reference Citation Analysis]
648 Milko LV, O'Daniel JM, DeCristo DM, Crowley SB, Foreman AKM, Wallace KE, Mollison LF, Strande NT, Girnary ZS, Boshe LJ, Aylsworth AS, Gucsavas-Calikoglu M, Frazier DM, Vora NL, Roche MI, Powell BC, Powell CM, Berg JS. An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening. J Pediatr 2019;209:68-76. [PMID: 30851990 DOI: 10.1016/j.jpeds.2018.12.027] [Cited by in Crossref: 18] [Cited by in F6Publishing: 13] [Article Influence: 6.0] [Reference Citation Analysis]
649 Foussier L, Vitellius G, Bouligand J, Amazit L, Bouvattier C, Young J, Trabado S, Lombès M. Functional Characterization of Glucocorticoid Receptor Variants Is Required to Avoid Misinterpretation of NGS Data. J Endocr Soc 2019;3:865-81. [PMID: 31008420 DOI: 10.1210/js.2019-00028] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
650 Ormond KE, O'daniel JM, Kalia SS. Secondary findings: How did we get here, and where are we going? J Genet Couns 2019;28:326-33. [DOI: 10.1002/jgc4.1098] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 5.7] [Reference Citation Analysis]
651 Wang Q, Peng WX, Wang L, Ye L. Toward multiomics-based next-generation diagnostics for precision medicine. Per Med 2019;16:157-70. [PMID: 30816060 DOI: 10.2217/pme-2018-0085] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
652 Yasuda J, Kinoshita K, Katsuoka F, Danjoh I, Sakurai-Yageta M, Motoike IN, Kuroki Y, Saito S, Kojima K, Shirota M, Saigusa D, Otsuki A, Kawashima J, Yamaguchi-Kabata Y, Tadaka S, Aoki Y, Mimori T, Kumada K, Inoue J, Makino S, Kuriki M, Fuse N, Koshiba S, Tanabe O, Nagasaki M, Tamiya G, Shimizu R, Takai-Igarashi T, Ogishima S, Hozawa A, Kuriyama S, Sugawara J, Tsuboi A, Kiyomoto H, Ishii T, Tomita H, Minegishi N, Suzuki Y, Suzuki K, Kawame H, Tanaka H, Taki Y, Yaegashi N, Kure S, Nagami F, Kosaki K, Sutoh Y, Hachiya T, Shimizu A, Sasaki M, Yamamoto M; Tohoku Medical Megabank Project Study Group. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. J Biochem 2019;165:139-58. [PMID: 30452759 DOI: 10.1093/jb/mvy096] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 6.7] [Reference Citation Analysis]
653 Zoltick ES, Linderman MD, McGinniss MA, Ramos E, Ball MP, Church GM, Leonard DGB, Pereira S, McGuire AL, Caskey CT, Sanderson SC, Schadt EE, Nielsen DE, Crawford SD, Green RC; PeopleSeq Consortium. Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium. Genome Med 2019;11:10. [PMID: 30808425 DOI: 10.1186/s13073-019-0619-9] [Cited by in Crossref: 22] [Cited by in F6Publishing: 17] [Article Influence: 7.3] [Reference Citation Analysis]
654 Ethics Committee of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org., Ethics Committee of the American Society for Reproductive Medicine. Disclosure of sex when incidentally revealed as part of preimplantation genetic testing (PGT): an Ethics Committee opinion. Fertil Steril 2018;110:625-7. [PMID: 30196948 DOI: 10.1016/j.fertnstert.2018.06.019] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
655 Martyn M, Kanga-parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I, Gaff CL; Melbourne Genomics Health Alliance. A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system. J Genet Couns 2019;28:388-97. [DOI: 10.1002/jgc4.1102] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.7] [Reference Citation Analysis]
656 Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A, Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ; ICSL Interpretation and Reporting Team. Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. NPJ Genom Med 2019;4:5. [PMID: 30792901 DOI: 10.1038/s41525-018-0076-1] [Cited by in Crossref: 28] [Cited by in F6Publishing: 23] [Article Influence: 9.3] [Reference Citation Analysis]
657 Torti E, Keren B, Palmer EE, Zhu Z, Afenjar A, Anderson IJ, Andrews MV, Atkinson C, Au M, Berry SA, Bowling KM, Boyle J, Buratti J, Cathey SS, Charles P, Cogne B, Courtin T, Escobar LF, Finley SL, Graham JM Jr, Grange DK, Heron D, Hewson S, Hiatt SM, Hibbs KA, Jayakar P, Kalsner L, Larcher L, Lesca G, Mark PR, Miller K, Nava C, Nizon M, Pai GS, Pappas J, Parsons G, Payne K, Putoux A, Rabin R, Sabatier I, Shinawi M, Shur N, Skinner SA, Valence S, Warren H, Whalen S, Crunk A, Douglas G, Monaghan KG, Person RE, Willaert R, Solomon BD, Juusola J. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med 2019;21:2036-42. [PMID: 30739909 DOI: 10.1038/s41436-019-0454-9] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
658 Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population. J Neurogenet 2019;33:21-6. [PMID: 30724636 DOI: 10.1080/01677063.2018.1555249] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
659 Schellevis RL, van Dijk EHC, Breukink MB, Keunen JEE, Santen GWE, Hoyng CB, de Jong EK, Boon CJF, den Hollander AI. Exome sequencing in families with chronic central serous chorioretinopathy. Mol Genet Genomic Med 2019;7:e00576. [PMID: 30724488 DOI: 10.1002/mgg3.576] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
660 Stalke A, Pfister ED, Baumann U, Eilers M, Schäffer V, Illig T, Auber B, Schlegelberger B, Brackmann R, Prokisch H, Krooss S, Bohne J, Skawran B. Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export. Eur J Hum Genet 2019;27:879-87. [PMID: 30723317 DOI: 10.1038/s41431-019-0345-1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
661 Seiffert DJ, McCarthy Veach P, LeRoy B, Guan W, Zierhut H. Beyond medical actionability: Public perceptions of important actions in response to hypothetical genetic testing results. J Genet Couns 2019;28:355-66. [PMID: 30710467 DOI: 10.1002/jgc4.1048] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
662 Grove ME, White S, Fisk DG, Rego S, Dagan-Rosenfeld O, Kohler JN, Reuter CM, Bonner D, Wheeler MT, Bernstein JA, Ormond KE, Hanson-Kahn AK; Undiagnosed Diseases Network. Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. J Genet Couns 2019;28:466-76. [PMID: 30706981 DOI: 10.1002/jgc4.1094] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
663 Berberich AJ, Hegele RA. The role of genetic testing in dyslipidaemia. Pathology 2019;51:184-92. [DOI: 10.1016/j.pathol.2018.10.014] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 7.0] [Reference Citation Analysis]
664 Laviolle B, Denèfle P, Gueyffier F, Bégué É, Bilbault P, Espérou H, Gaillard-bigot F, Grenet G, Guérin J, Guillot C, Longeray P, Morere J, Perche O, Perrier L, Sanlaville D, Thevenon J, Varoqueaux N. The contribution of genomics in the medicine of tomorrow, clinical applications and issues. Therapies 2019;74:9-15. [DOI: 10.1016/j.therap.2018.11.012] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
665 Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet 2019;393:758-67. [PMID: 30712878 DOI: 10.1016/S0140-6736(18)32042-7] [Cited by in Crossref: 137] [Cited by in F6Publishing: 47] [Article Influence: 45.7] [Reference Citation Analysis]
666 Duquette D. Implementation of public health genomics and applications to public health dentistry. J Public Health Dent 2020;80 Suppl 1:S37-42. [PMID: 30687926 DOI: 10.1111/jphd.12307] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
667 Rossing M, Sørensen CS, Ejlertsen B, Nielsen FC. Whole genome sequencing of breast cancer. APMIS 2019;127:303-15. [PMID: 30689231 DOI: 10.1111/apm.12920] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
668 Tallapaka K, Aggarwal S, Bhattacherjee A, Das Bhowmik A, Dalal A. Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned? Mol Syndromol 2019;10:177-82. [PMID: 31191208 DOI: 10.1159/000496280] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
669 Hammer MJ. Beyond the Helix: Ethical, Legal, and Social Implications in Genomics. Semin Oncol Nurs 2019;35:93-106. [PMID: 30683550 DOI: 10.1016/j.soncn.2018.12.007] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
670 Williams MS, Buchanan AH, Davis FD, Faucett WA, Hallquist MLG, Leader JB, Martin CL, McCormick CZ, Meyer MN, Murray MF, Rahm AK, Schwartz MLB, Sturm AC, Wagner JK, Williams JL, Willard HF, Ledbetter DH. Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience. Health Aff (Millwood) 2018;37:757-64. [PMID: 29733722 DOI: 10.1377/hlthaff.2017.1557] [Cited by in Crossref: 51] [Cited by in F6Publishing: 35] [Article Influence: 17.0] [Reference Citation Analysis]
671 Reed EK, Steinmark L, Seibert DC, Edelman E. Somatic Testing: Implications for Targeted Treatment. Semin Oncol Nurs 2019;35:22-33. [PMID: 30660356 DOI: 10.1016/j.soncn.2018.12.009] [Reference Citation Analysis]
672 Ge T, Zhang X, Xiao Y, Wang Y, Zhang T. Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. BMC Med Genet. 2019;20:18. [PMID: 30658709 DOI: 10.1186/s12881-019-0753-7] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 3.3] [Reference Citation Analysis]
673 Matias M, Wusik K, Neilson D, Zhang X, Valencia CA, Collins K. Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results. J Genet Couns 2019;28:182-93. [PMID: 30648779 DOI: 10.1002/jgc4.1054] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
674 Jones EG, Landstrom AP. Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation. J Vis Exp 2019. [PMID: 30735170 DOI: 10.3791/58907] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
675 Nagai A, Ri I, Muto K. Attitudes toward genomic tumor profiling tests in Japan: patients, family members, and the public. J Hum Genet 2019;64:481-5. [PMID: 30631119 DOI: 10.1038/s10038-018-0555-3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
676 Thorogood A, Dalpé G, Knoppers BM. Return of individual genomic research results: are laws and policies keeping step? Eur J Hum Genet 2019;27:535-46. [PMID: 30622328 DOI: 10.1038/s41431-018-0311-3] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 12.7] [Reference Citation Analysis]
677 Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E. Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. Fam Cancer 2018;17:141-53. [PMID: 28608266 DOI: 10.1007/s10689-017-0011-0] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
678 Babovic-Vuksanovic D. Genomics as a Scientifically Based Fortune-teller. Mayo Clin Proc 2019;94:7-9. [PMID: 30611456 DOI: 10.1016/j.mayocp.2018.11.008] [Reference Citation Analysis]
679 Santos M, Coudry RA, Ferreira CG, Stefani S, Cunha IW, Zalis MG, Araujo LH. Increasing access to next-generation sequencing in oncology for Brazil. The Lancet Oncology 2019;20:20-3. [DOI: 10.1016/s1470-2045(18)30822-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 1.3] [Reference Citation Analysis]
680 Lu JT, Ferber M, Hagenkord J, Levin E, South S, Kang HP, Strong KA, Bick DP. Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing. The Journal of Molecular Diagnostics 2019;21:3-12. [DOI: 10.1016/j.jmoldx.2018.09.006] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 4.7] [Reference Citation Analysis]
681 Laberge AM, Richer J, Ravitsky V. Toward Broader Genetic Contextualism: Genetic Testing Enters the Age of Evidence-Based Medicine. Am J Bioeth 2019;19:77-9. [PMID: 31307361 DOI: 10.1080/15265161.2018.1544315] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
682 Burke W. Genomes in Context. Am J Bioeth 2019;19:66-7. [PMID: 31307368 DOI: 10.1080/15265161.2018.1544323] [Reference Citation Analysis]
683 Smith EE, du Souich C, Dragojlovic N, Elliott AM; CAUSES Study, RAPIDOMICS Study. Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit. J Genet Couns 2019;28:263-72. [DOI: 10.1002/jgc4.1074] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 3.8] [Reference Citation Analysis]
684 Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med 2019;380:142-51. [PMID: 30586318 DOI: 10.1056/NEJMoa1806891] [Cited by in Crossref: 166] [Cited by in F6Publishing: 90] [Article Influence: 41.5] [Reference Citation Analysis]
685 Kim J, Luo W, Wang M, Wegman-Ostrosky T, Frone MN, Johnston JJ, Nickerson ML, Rotunno M, Li SA, Achatz MI, Brodie SA, Dean M, de Andrade KC, Fortes FP, Gianferante M, Khincha P, McMaster ML, McReynolds LJ, Pemov A, Pinheiro M, Santiago KM, Alter BP, Caporaso NE, Gadalla SM, Goldin LR, Greene MH, Loud J, Yang XR, Freedman ND, Gapstur SM, Gaudet MM, Calista D, Ghiorzo P, Fargnoli MC, Nagore E, Peris K, Puig S, Landi MT, Hicks B, Zhu B, Liu J, Sampson JN, Chanock SJ, Mirabello LJ, Morton LM, Biesecker LG, Tucker MA, Savage SA, Goldstein AM, Stewart DR. Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls. Genome Med 2018;10:99. [PMID: 30583724 DOI: 10.1186/s13073-018-0607-5] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
686 David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE; ACMG Social Ethical Legal Issues Committee. Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2019;21:769-71. [PMID: 30578420 DOI: 10.1038/s41436-018-0391-z] [Cited by in Crossref: 45] [Cited by in F6Publishing: 38] [Article Influence: 11.3] [Reference Citation Analysis]
687 Gornick MC, Ryan KA, Scherer AM, Scott Roberts J, De Vries RG, Uhlmann WR. Interpretations of the Term "Actionable" when Discussing Genetic Test Results: What you Mean Is Not What I Heard. J Genet Couns 2019;28:334-42. [PMID: 30964581 DOI: 10.1007/s10897-018-0289-6] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
688 Rego S, Dagan-Rosenfeld O, Zhou W, Sailani MR, Limcaoco P, Colbert E, Avina M, Wheeler J, Craig C, Salins D, Röst HL, Dunn J, McLaughlin T, Steinmetz LM, Bernstein JA, Snyder MP. High-frequency actionable pathogenic exome variants in an average-risk cohort. Cold Spring Harb Mol Case Stud 2018;4:a003178. [PMID: 30487145 DOI: 10.1101/mcs.a003178] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 3.8] [Reference Citation Analysis]
689 Vornanen M, Aktan-collan K, Hallowell N, Konttinen H, Haukkala A. Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study. J Genet Couns 2019;28:343-54. [DOI: 10.1007/s10897-018-0288-7] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
690 Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat 2019;40:162-76. [PMID: 30461122 DOI: 10.1002/humu.23689] [Cited by in Crossref: 8] [Cited by in F6Publishing: 11] [Article Influence: 2.0] [Reference Citation Analysis]
691 Bris C, Goudenege D, Desquiret-Dumas V, Charif M, Colin E, Bonneau D, Amati-Bonneau P, Lenaers G, Reynier P, Procaccio V. Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. Front Genet 2018;9:632. [PMID: 30619459 DOI: 10.3389/fgene.2018.00632] [Cited by in Crossref: 30] [Cited by in F6Publishing: 22] [Article Influence: 7.5] [Reference Citation Analysis]
692 Hull LE, Vassy JL. Toward greater understanding of patient decision-making around genome sequencing. Per Med 2018;15:57-66. [PMID: 29714114 DOI: 10.2217/pme-2017-0037] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
693 Murray MF, Evans JP, Angrist M, Uhlmann WR, Lochner Doyle D, Fullerton SM, Ganiats TG, Hagenkord J, Imhof S, Rim SH, Ortmann L, Aziz N, Dotson WD, Matloff E, Young K, Kaphingst K, Bradbury A, Scott J, Wang C, Zauber A, Levine M, Korf B, Leonard DG, Wicklund C, Isham G, Khoury MJ. A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults. NAM Perspectives. [DOI: 10.31478/201812a] [Cited by in Crossref: 15] [Cited by in F6Publishing: 7] [Article Influence: 3.8] [Reference Citation Analysis]
694 Chang IJ, He M, Lam CT. Congenital disorders of glycosylation. Ann Transl Med 2018;6:477. [PMID: 30740408 DOI: 10.21037/atm.2018.10.45] [Cited by in Crossref: 68] [Cited by in F6Publishing: 50] [Article Influence: 17.0] [Reference Citation Analysis]
695 Szego MJ, Meyn MS, Shuman C, Zlotnik Shaul R, Anderson JA, Bowdin S, Monfared N, Hayeems RZ. Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics. Eur J Med Genet 2019;62:350-6. [PMID: 30503855 DOI: 10.1016/j.ejmg.2018.11.029] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
696 May T. The value of genetic testing for family health history of adopted persons. Nat Rev Genet 2019;20:65-6. [DOI: 10.1038/s41576-018-0080-4] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
697 Kulchak Rahm A, Bailey L, Fultz K, Fan A, Williams JL, Buchanan A, Davis FD, Murray MF, Williams MS. Parental attitudes and expectations towards receiving genomic test results in healthy children. Transl Behav Med 2018;8:44-53. [PMID: 29385584 DOI: 10.1093/tbm/ibx044] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
698 Mirshahi UL, Luo JZ, Manickam K, Wardeh AH, Mirshahi T, Murray MF, Carey DJ. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation. Genet Med 2019;21:1417-24. [PMID: 30449888 DOI: 10.1038/s41436-018-0353-5] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
699 Ishida H, Iguchi A, Aoe M, Takahashi T, Tamefusa K, Kanamitsu K, Fujiwara K, Washio K, Matsubara T, Tsukahara H, Sanada M, Shimada A. Panel-based next-generation sequencing identifies prognostic and actionable genes in childhood acute lymphoblastic leukemia and is suitable for clinical sequencing. Ann Hematol 2019;98:657-68. [PMID: 30446805 DOI: 10.1007/s00277-018-3554-8] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
700 Vos S, van Diest PJ, Ausems MG, van Dijk MR, de Leng WW, Bredenoord AL. Ethical considerations for modern molecular pathology: Ethical considerations for modern molecular pathology. J Pathol 2018;246:405-14. [DOI: 10.1002/path.5157] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
701 Biesecker LG, Nussbaum RL, Rehm HL. Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition. JAMA 2018;320:1929-30. [PMID: 30326012 DOI: 10.1001/jama.2018.14900] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 5.5] [Reference Citation Analysis]
702 Scollon S, Majumder MA, Bergstrom K, Wang T, McGuire AL, Robinson JO, Gutierrez AM, Lee CH, Hilsenbeck SG, Plon SE, Parsons DW, Street RL Jr. Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents. Patient Educ Couns 2019;102:680-6. [PMID: 30482469 DOI: 10.1016/j.pec.2018.11.007] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
703 Hellwig LD, Turner C, Manolio TA, Haigney M, James CA, Murray B, Szpisjak DF, Muldoon S, Estrada-Veras J, Krokosky A, De Castro MJ. Return of secondary findings in genomic sequencing: Military implications. Mol Genet Genomic Med 2019;7:e00483. [PMID: 30415494 DOI: 10.1002/mgg3.483] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]