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For: Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med 2015;3:377-87. [PMID: 25937001 DOI: 10.1016/S2213-2600(15)00139-3] [Cited by in Crossref: 196] [Cited by in F6Publishing: 102] [Article Influence: 28.0] [Reference Citation Analysis]
Number Citing Articles
1 Milko LV, Rini C, Lewis MA, Butterfield RM, Lin FC, Paquin RS, Powell BC, Roche MI, Souris KJ, Bailey DB Jr, Berg JS, Powell CM. Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol. Trials 2018;19:344. [PMID: 29950170 DOI: 10.1186/s13063-018-2686-4] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 2.5] [Reference Citation Analysis]
2 Wilkinson DJ, Barnett C, Savulescu J, Newson AJ. Genomic intensive care: should we perform genome testing in critically ill newborns? Arch Dis Child Fetal Neonatal Ed 2016;101:F94-8. [PMID: 26369368 DOI: 10.1136/archdischild-2015-308568] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 1.7] [Reference Citation Analysis]
3 Stark Z, Dashnow H, Lunke S, Tan TY, Yeung A, Sadedin S, Thorne N, Macciocca I, Gaff C, Oshlack A, White SM, James PA; Melbourne Genomics Health Alliance. A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. Eur J Hum Genet 2017;25:1268-72. [PMID: 28832562 DOI: 10.1038/ejhg.2017.123] [Cited by in Crossref: 12] [Cited by in F6Publishing: 7] [Article Influence: 2.4] [Reference Citation Analysis]
4 Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins S. Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia. Mol Genet Genomic Med 2022;:e1888. [PMID: 35119225 DOI: 10.1002/mgg3.1888] [Reference Citation Analysis]
5 East KM, Cochran ME, Kelley WV, Greve V, Finnila CR, Coleman T, Jennings M, Alexander L, Rahn EJ, Danila MI, Barsh G, Korf B, Cooper G. Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting. JPM 2022;12:405. [DOI: 10.3390/jpm12030405] [Reference Citation Analysis]
6 Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA. Medical implications of technical accuracy in genome sequencing. Genome Med 2016;8:24. [PMID: 26932475 DOI: 10.1186/s13073-016-0269-0] [Cited by in Crossref: 86] [Cited by in F6Publishing: 63] [Article Influence: 14.3] [Reference Citation Analysis]
7 Hays T, Wapner RJ. Genetic testing for unexplained perinatal disorders. Curr Opin Pediatr 2021;33:195-202. [PMID: 33605625 DOI: 10.1097/MOP.0000000000000999] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Reinstein E. Challenges of using next generation sequencing in newborn screening. Genet Res (Camb) 2015;97:e21. [PMID: 26521961 DOI: 10.1017/S0016672315000178] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 1.4] [Reference Citation Analysis]
9 Sen K, Harmon J, Gropman AL. Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns. Int J Neonatal Screen 2021;7:76. [PMID: 34842609 DOI: 10.3390/ijns7040076] [Reference Citation Analysis]
10 Friedman JM, Cornel MC, Goldenberg AJ, Lister KJ, Sénécal K, Vears DF; Global Alliance for Genomics and Health Regulatory and Ethics Working Group Paediatric Task Team. Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics 2017;10:9. [PMID: 28222731 DOI: 10.1186/s12920-017-0247-4] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 7.6] [Reference Citation Analysis]
11 Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet 2018;26:740-4. [PMID: 29453418 DOI: 10.1038/s41431-018-0114-6] [Cited by in Crossref: 45] [Cited by in F6Publishing: 38] [Article Influence: 11.3] [Reference Citation Analysis]
12 Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Genetic diagnosis in the fetus. J Perinatol 2020;40:997-1006. [PMID: 32094481 DOI: 10.1038/s41372-020-0627-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
13 Li M, Li J, Li MJ, Pan Z, Hsu JS, Liu DJ, Zhan X, Wang J, Song Y, Sham PC. Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework. Nucleic Acids Res 2017;45:e75. [PMID: 28115622 DOI: 10.1093/nar/gkx019] [Cited by in Crossref: 8] [Cited by in F6Publishing: 16] [Article Influence: 1.6] [Reference Citation Analysis]
14 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]
15 Char DS, Lee SS, Magnus D, Cho M. Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease. Genet Med 2018;20:1455-61. [PMID: 29493583 DOI: 10.1038/gim.2018.25] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 2.3] [Reference Citation Analysis]
16 Muriello M. Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit. Clinics in Perinatology 2022. [DOI: 10.1016/j.clp.2021.11.018] [Reference Citation Analysis]
17 Owen MJ, Lenberg J, Feigenbaum A, Gold J, Chau K, Bezares-Orin Z, Ding Y, Chowdhury S, Kingsmore SF. Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. Cold Spring Harb Mol Case Stud 2021;7:a006091. [PMID: 34117075 DOI: 10.1101/mcs.a006091] [Reference Citation Analysis]
18 Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA. Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing. Curr Neurol Neurosci Rep 2015;15:64. [PMID: 26289954 DOI: 10.1007/s11910-015-0584-7] [Cited by in Crossref: 22] [Cited by in F6Publishing: 17] [Article Influence: 3.7] [Reference Citation Analysis]
19 Scherer SW. Genomic medicine goes mainstream. NPJ Genom Med 2016;1:15001. [PMID: 29263800 DOI: 10.1038/npjgenmed.2015.1] [Reference Citation Analysis]
20 Haendel MA, Chute CG, Robinson PN. Classification, Ontology, and Precision Medicine. N Engl J Med 2018;379:1452-62. [PMID: 30304648 DOI: 10.1056/NEJMra1615014] [Cited by in Crossref: 113] [Cited by in F6Publishing: 51] [Article Influence: 28.3] [Reference Citation Analysis]
21 Manolio TA, Fowler DM, Starita LM, Haendel MA, MacArthur DG, Biesecker LG, Worthey E, Chisholm RL, Green ED, Jacob HJ, McLeod HL, Roden D, Rodriguez LL, Williams MS, Cooper GM, Cox NJ, Herman GE, Kingsmore S, Lo C, Lutz C, MacRae CA, Nussbaum RL, Ordovas JM, Ramos EM, Robinson PN, Rubinstein WS, Seidman C, Stranger BE, Wang H, Westerfield M, Bult C. Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell 2017;169:6-12. [PMID: 28340351 DOI: 10.1016/j.cell.2017.03.005] [Cited by in Crossref: 80] [Cited by in F6Publishing: 61] [Article Influence: 16.0] [Reference Citation Analysis]
22 Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L. Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics. Pediatr Res 2022. [PMID: 35115709 DOI: 10.1038/s41390-022-01965-5] [Reference Citation Analysis]
23 Lyons LA, Creighton EK, Alhaddad H, Beale HC, Grahn RA, Rah H, Maggs DJ, Helps CR, Gandolfi B. Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics 2016;17:265. [PMID: 27030474 DOI: 10.1186/s12864-016-2595-4] [Cited by in Crossref: 32] [Cited by in F6Publishing: 24] [Article Influence: 5.3] [Reference Citation Analysis]
24 Powell SN, Byfield G, Bennetone A, Frantz AM, Harrison LK, James-crook ER, Osborne H, Owens TH, Shaw JL, O’daniel J, Milko LV. Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population. Front Genet 2022;13:867030. [DOI: 10.3389/fgene.2022.867030] [Reference Citation Analysis]
25 Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D. Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system. Cold Spring Harb Mol Case Stud 2020;6:a004705. [PMID: 32014857 DOI: 10.1101/mcs.a004705] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 3.5] [Reference Citation Analysis]
26 Nannapaneni H, Ghaleb S, Arya S, Gajula V, Taylor MB, Das BB. Further Evidence of Autosomal Recessive Inheritance of RPL3L Pathogenic Variants with Rapidly Progressive Neonatal Dilated Cardiomyopathy. JCDD 2022;9:65. [DOI: 10.3390/jcdd9030065] [Reference Citation Analysis]
27 Bick D, Jones M, Taylor SL, Taft RJ, Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet 2019;56:783-91. [PMID: 31023718 DOI: 10.1136/jmedgenet-2019-106111] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 9.7] [Reference Citation Analysis]
28 Wojcik MH, Schwartz TS, Yamin I, Edward HL, Genetti CA, Towne MC, Agrawal PB. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med 2018;20:1396-404. [PMID: 29790870 DOI: 10.1038/gim.2018.17] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 5.0] [Reference Citation Analysis]
29 Zhu T, Gong X, Bei F, Ma L, Chen Y, Zhang Y, Wang X, Sun J, Wang J, Qiu G, Sun J, Sun Y, Zhang Y. Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China. Front Genet 2020;11:565078. [PMID: 33240318 DOI: 10.3389/fgene.2020.565078] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
30 Char DS. How should whole-genome sequencing be implemented in children? A consideration of the current limitations. Personalized Medicine 2016;13:33-42. [DOI: 10.2217/pme.15.44] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
31 Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM; ACMG Board of Directors. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021. [PMID: 34211152 DOI: 10.1038/s41436-021-01242-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
32 Wojcik MH, Brodsky D, Stewart JE, Picker J. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol 2018;38:1125-34. [PMID: 30076402 DOI: 10.1038/s41372-018-0187-7] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
33 AlSaif S, Umair M, Alfadhel M. Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review. J Cent Nerv Syst Dis 2019;11:1179573519849938. [PMID: 31205438 DOI: 10.1177/1179573519849938] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
34 Meienberg J, Bruggmann R, Oexle K, Matyas G. Clinical sequencing: is WGS the better WES? Hum Genet 2016;135:359-62. [PMID: 26742503 DOI: 10.1007/s00439-015-1631-9] [Cited by in Crossref: 163] [Cited by in F6Publishing: 125] [Article Influence: 27.2] [Reference Citation Analysis]
35 Malone Jenkins S, Palmquist R, Kapron AL, Torr C, Best DH, Karren MA, Brunelli L, Yandell M, Tristani-Firouzi M, Dimmock D, Watts B, Botkin JR, Johnson A, Bonkowsky JL. Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program. J Clin Transl Sci 2021;5:e177. [PMID: 34849253 DOI: 10.1017/cts.2021.833] [Reference Citation Analysis]
36 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]
37 Ouyang X, Zhang Y, Zhang L, Luo J, Zhang T, Hu H, Liu L, Zhong L, Zeng S, Xu P, Bai Z, Wong LJ, Wang J, Wang C, Wang B, Zhang VW. Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders. Front Genet 2021;12:725259. [PMID: 34490048 DOI: 10.3389/fgene.2021.725259] [Reference Citation Analysis]
38 Fazeli W, Karakaya M, Herkenrath P, Vierzig A, Dötsch J, von Kleist-Retzow JC, Cirak S. Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis. Mol Cell Pediatr 2016;3:22. [PMID: 27317552 DOI: 10.1186/s40348-016-0050-x] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 1.3] [Reference Citation Analysis]
39 Fung JLF, Yu MHC, Huang S, Chung CCY, Chan MCY, Pajusalu S, Mak CCY, Hui VCC, Tsang MHY, Yeung KS, Lek M, Chung BHY. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ Genom Med 2020;5:37. [PMID: 32963807 DOI: 10.1038/s41525-020-00144-x] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
40 Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW. A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. Ann Lab Med 2016;36:561-72. [PMID: 27578510 DOI: 10.3343/alm.2016.36.6.561] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
41 Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet 2018;19:253-68. [PMID: 29398702 DOI: 10.1038/nrg.2017.116] [Cited by in Crossref: 172] [Cited by in F6Publishing: 134] [Article Influence: 43.0] [Reference Citation Analysis]
42 Wojcik MH, Stewart JE, Waisbren SE, Litt JS. Developmental Support for Infants With Genetic Disorders. Pediatrics 2020;145:e20190629. [PMID: 32327449 DOI: 10.1542/peds.2019-0629] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
43 Liu Y, Hao C, Li K, Hu X, Gao H, Zeng J, Guo R, Liu J, Guo J, Li Z, Qi Z, Jia X, Li W, Qian S. Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China. Front Genet 2021;12:677699. [PMID: 34539730 DOI: 10.3389/fgene.2021.677699] [Reference Citation Analysis]
44 Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Cold Spring Harb Mol Case Stud 2020;6:a003970. [PMID: 32358097 DOI: 10.1101/mcs.a003970] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
45 Gyngell C, Newson AJ, Wilkinson D, Stark Z, Savulescu J. Rapid Challenges: Ethics and Genomic Neonatal Intensive Care. Pediatrics 2019;143:S14-21. [PMID: 30600266 DOI: 10.1542/peds.2018-1099D] [Cited by in Crossref: 13] [Cited by in F6Publishing: 7] [Article Influence: 4.3] [Reference Citation Analysis]
46 Sanford Kobayashi E, Waldman B, Engorn BM, Perofsky K, Allred E, Briggs B, Gatcliffe C, Ramchandar N, Gold JJ, Doshi A, Ingulli EG, Thornburg CD, Benson W, Farnaes L, Chowdhury S, Rego S, Hobbs C, Kingsmore SF, Dimmock DP, Coufal NG. Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit. Front Pediatr 2022;9:809536. [DOI: 10.3389/fped.2021.809536] [Reference Citation Analysis]
47 Giddens MM, Wong JC, Schroeder JP, Farrow EG, Smith BM, Owino S, Soden SE, Meyer RC, Saunders C, LePichon JB, Weinshenker D, Escayg A, Hall RA. GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant. Neurobiol Dis 2017;106:181-90. [PMID: 28688853 DOI: 10.1016/j.nbd.2017.07.006] [Cited by in Crossref: 18] [Cited by in F6Publishing: 15] [Article Influence: 3.6] [Reference Citation Analysis]
48 Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, de Leeuw N, Faas B, Gardeitchik T, Sallevelt SCEH, Paulussen A, Stevens SJC, Sikkel E, Elting MW, van Maarle MC, Diderich KEM, Corsten-Janssen N, Lichtenbelt KD, Lachmeijer G, Vissers LELM, Yntema HG, Nelen M, Feenstra I, van Zelst-Stams WAG. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging. Prenat Diagn 2020;40:972-83. [PMID: 32333414 DOI: 10.1002/pd.5717] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
49 Wortmann SB, Duba H. Angewandte Genetik in der Pädiatrie. Monatsschr Kinderheilkd 2018;166:774-84. [DOI: 10.1007/s00112-018-0525-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
50 Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. Eur J Hum Genet 2019;27:1821-6. [PMID: 31358953 DOI: 10.1038/s41431-019-0477-3] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
51 Schnappauf O, Aksentijevich I. Current and future advances in genetic testing in systemic autoinflammatory diseases. Rheumatology (Oxford) 2019;58:vi44-55. [PMID: 31769854 DOI: 10.1093/rheumatology/kez294] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 4.5] [Reference Citation Analysis]
52 Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Yoon YH, Eun BL, Desnick RJ, Keum C, Lee BH. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clin Genet 2020;98:562-70. [PMID: 32901917 DOI: 10.1111/cge.13848] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
53 Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med 2020;22:986-1004. [PMID: 32203227 DOI: 10.1038/s41436-020-0771-z] [Cited by in Crossref: 19] [Cited by in F6Publishing: 14] [Article Influence: 9.5] [Reference Citation Analysis]
54 Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med 2016;1:15012. [PMID: 28567303 DOI: 10.1038/npjgenmed.2015.12] [Cited by in Crossref: 177] [Cited by in F6Publishing: 155] [Article Influence: 29.5] [Reference Citation Analysis]
55 Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med 2021:S1098-3600(21)05366-1. [PMID: 34906488 DOI: 10.1016/j.gim.2021.10.014] [Reference Citation Analysis]
56 Doble B, Schofield DJ, Roscioli T, Mattick JS. Prioritising the application of genomic medicine. NPJ Genom Med 2017;2:35. [PMID: 29263844 DOI: 10.1038/s41525-017-0037-0] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 2.8] [Reference Citation Analysis]
57 Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm. Am J Hum Genet 2020;107:942-52. [PMID: 33157007 DOI: 10.1016/j.ajhg.2020.10.003] [Cited by in Crossref: 11] [Cited by in F6Publishing: 13] [Article Influence: 5.5] [Reference Citation Analysis]
58 Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet 2021;108:1231-8. [PMID: 34089648 DOI: 10.1016/j.ajhg.2021.05.008] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
59 King JR, Hammarström L. Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice. J Clin Immunol 2018;38:56-66. [PMID: 29116556 DOI: 10.1007/s10875-017-0455-x] [Cited by in Crossref: 54] [Cited by in F6Publishing: 47] [Article Influence: 10.8] [Reference Citation Analysis]
60 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]
61 Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D; RCIGM Investigators. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet 2019;105:719-33. [PMID: 31564432 DOI: 10.1016/j.ajhg.2019.08.009] [Cited by in Crossref: 71] [Cited by in F6Publishing: 68] [Article Influence: 23.7] [Reference Citation Analysis]
62 Kingsmore SF, Henderson A, Owen MJ, Clark MM, Hansen C, Dimmock D, Chambers CD, Jeliffe-Pawlowski LL, Hobbs C. Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing. NPJ Genom Med 2020;5:49. [PMID: 33154820 DOI: 10.1038/s41525-020-00155-8] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
63 Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, Ndugga-Kabuye MK, Smith MB, Fogus K, Mefford HC, Lam C, Adam MP, Sun A, McGuire JK, DiGeronimo R, Dipple KM, Deutsch GH, Billimoria ZC, Bennett JT. The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children. J Pediatr 2020:S0022-3476(20)30721-6. [PMID: 32553838 DOI: 10.1016/j.jpeds.2020.06.020] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
64 Kernan KF, Ghaloul-Gonzalez L, Vockley J, Carcillo JA. Rapid Whole Genome Sequencing and Fulfilling the Promise of Precision Pediatric Critical Care. Pediatr Crit Care Med 2019;20:1085-6. [PMID: 31688677 DOI: 10.1097/PCC.0000000000002082] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
65 Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn 2018;38:10-9. [PMID: 28654730 DOI: 10.1002/pd.5102] [Cited by in Crossref: 145] [Cited by in F6Publishing: 124] [Article Influence: 29.0] [Reference Citation Analysis]
66 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]
67 Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Rapid whole genome sequencing and precision neonatology. Semin Perinatol 2015;39:623-31. [PMID: 26521050 DOI: 10.1053/j.semperi.2015.09.009] [Cited by in Crossref: 105] [Cited by in F6Publishing: 92] [Article Influence: 15.0] [Reference Citation Analysis]
68 Eilbeck K, Quinlan A, Yandell M. Settling the score: variant prioritization and Mendelian disease. Nat Rev Genet 2017;18:599-612. [PMID: 28804138 DOI: 10.1038/nrg.2017.52] [Cited by in Crossref: 134] [Cited by in F6Publishing: 102] [Article Influence: 26.8] [Reference Citation Analysis]
69 Chung CCY, Leung GKC, Mak CCY, Fung JLF, Lee M, Pei SLC, Yu MHC, Hui VCC, Chan JCK, Chau JFT, Chan MCY, Tsang MHY, Wong WHS, Tung JYL, Lun KS, Ng YK, Fung CW, Wong MSC, Wong RMS, Lau YL, Chan GCF, Lee SL, Yeung KS, Chung BHY. Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs. Lancet Reg Health West Pac 2020;1:100001. [PMID: 34327338 DOI: 10.1016/j.lanwpc.2020.100001] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]
70 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]
71 Johnston J, Lantos JD, Goldenberg A, Chen F, Parens E, Koenig BA; members of the NSIGHT Ethics and Policy Advisory Board. Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies. Hastings Cent Rep 2018;48 Suppl 2:S2-6. [PMID: 30133723 DOI: 10.1002/hast.874] [Cited by in Crossref: 31] [Cited by in F6Publishing: 29] [Article Influence: 10.3] [Reference Citation Analysis]
72 Incerti D, Xu XM, Chou JW, Gonzaludo N, Belmont JW, Schroeder BE. Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases. Genet Med 2021:S1098-3600(21)01129-1. [PMID: 34906478 DOI: 10.1016/j.gim.2021.08.015] [Reference Citation Analysis]
73 Char DS. Whole-genome sequencing in critically ill infants and emerging ethical challenges. The Lancet Respiratory Medicine 2015;3:333-5. [DOI: 10.1016/s2213-2600(15)00151-4] [Cited by in Crossref: 3] [Article Influence: 0.4] [Reference Citation Analysis]
74 Pal LR, Kundu K, Yin Y, Moult J. CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. Hum Mutat 2017;38:1169-81. [PMID: 28512736 DOI: 10.1002/humu.23257] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.6] [Reference Citation Analysis]
75 Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med 2018;20:435-43. [PMID: 28771251 DOI: 10.1038/gim.2017.119] [Cited by in Crossref: 196] [Cited by in F6Publishing: 166] [Article Influence: 39.2] [Reference Citation Analysis]
76 Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. NPJ Genom Med 2019;4:32. [PMID: 31839987 DOI: 10.1038/s41525-019-0105-8] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]
77 Carey AS, Chung WK. Genomic Sequencing for Infants and Children in Intensive Care Units. Curr Pediatr Rep 2019;7:78-82. [DOI: 10.1007/s40124-019-00196-3] [Reference Citation Analysis]
78 Cakici JA, Dimmock DP, Caylor SA, Gaughran M, Clarke C, Triplett C, Clark MM, Kingsmore SF, Bloss CS. A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants. Am J Hum Genet 2020;107:953-62. [PMID: 33157008 DOI: 10.1016/j.ajhg.2020.10.004] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 4.5] [Reference Citation Analysis]
79 Gal DB, Deuitch N, Lee SSJ, Simon RT, Char DS. Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease. Pediatr Crit Care Med 2021;22:e419-26. [PMID: 33591072 DOI: 10.1097/PCC.0000000000002669] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
80 Fernandez-Marmiesse A, Gouveia S, Couce ML. NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. Curr Med Chem 2018;25:404-32. [PMID: 28721829 DOI: 10.2174/0929867324666170718101946] [Cited by in Crossref: 56] [Cited by in F6Publishing: 49] [Article Influence: 14.0] [Reference Citation Analysis]
81 Schroeder BE, Gonzaludo N, Everson K, Than KS, Sullivan J, Taft RJ, Belmont JW. The diagnostic trajectory of infants and children with clinical features of genetic disease. NPJ Genom Med 2021;6:98. [PMID: 34811359 DOI: 10.1038/s41525-021-00260-2] [Reference Citation Analysis]
82 Sweeney NM, Nahas SA, Chowdhury S, Batalov S, Clark M, Caylor S, Cakici J, Nigro JJ, Ding Y, Veeraraghavan N, Hobbs C, Dimmock D, Kingsmore SF. Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease. NPJ Genom Med 2021;6:29. [PMID: 33888711 DOI: 10.1038/s41525-021-00192-x] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
83 Noll AC, Miller NA, Smith LD, Yoo B, Fiedler S, Cooley LD, Willig LK, Petrikin JE, Cakici J, Lesko J, Newton A, Detherage K, Thiffault I, Saunders CJ, Farrow EG, Kingsmore SF. Clinical detection of deletion structural variants in whole-genome sequences. NPJ Genom Med 2016;1:16026. [PMID: 29263817 DOI: 10.1038/npjgenmed.2016.26] [Cited by in Crossref: 23] [Cited by in F6Publishing: 15] [Article Influence: 3.8] [Reference Citation Analysis]
84 Muriello M, Basel D. Rapid Exome and Genome Sequencing in the Intensive Care Unit. Critical Care Clinics 2022;38:173-84. [DOI: 10.1016/j.ccc.2021.11.001] [Reference Citation Analysis]
85 Solomon BD, Lee T, Nguyen AD, Wolfsberg TG. A 2.5-year snapshot of Mendelian discovery. Mol Genet Genomic Med 2016;4:392-4. [PMID: 27468415 DOI: 10.1002/mgg3.221] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
86 Miao H, Zhou J, Yang Q, Liang F, Wang D, Ma N, Gao B, Du J, Lin G, Wang K, Zhang Q. Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. Hereditas 2018;155:32. [PMID: 30279644 DOI: 10.1186/s41065-018-0069-1] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 6.0] [Reference Citation Analysis]
87 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]
88 Borràs DM, Vossen RHAM, Liem M, Buermans HPJ, Dauwerse H, van Heusden D, Gansevoort RT, den Dunnen JT, Janssen B, Peters DJM, Losekoot M, Anvar SY. Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing. Hum Mutat 2017;38:870-9. [PMID: 28378423 DOI: 10.1002/humu.23223] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 3.8] [Reference Citation Analysis]
89 Dikow N, Ditzen B, Kölker S, Hoffmann GF, Schaaf CP. From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs. Medizinische Genetik 2022;34:13-20. [DOI: 10.1515/medgen-2022-2113] [Reference Citation Analysis]
90 Gaff CL, M Winship I, M Forrest S, P Hansen D, Clark J, M Waring P, South M, H Sinclair A. Preparing for genomic medicine: a real world demonstration of health system change. NPJ Genom Med 2017;2:16. [PMID: 29263830 DOI: 10.1038/s41525-017-0017-4] [Cited by in Crossref: 42] [Cited by in F6Publishing: 42] [Article Influence: 8.4] [Reference Citation Analysis]
91 Mettman D, Thiffault I, Dinakar C, Saunders C. Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome. Front Pediatr 2017;5:71. [PMID: 28469999 DOI: 10.3389/fped.2017.00071] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
92 Staley BS, Milko LV, Waltz M, Griesemer I, Mollison L, Grant TL, Farnan L, Roche M, Navas A, Lightfoot A, Foreman AKM, O'Daniel JM, O'Neill SC, Lin FC, Roman TS, Brandt A, Powell BC, Rini C, Berg JS, Bensen JT. Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial. Trials 2021;22:395. [PMID: 34127041 DOI: 10.1186/s13063-021-05341-2] [Reference Citation Analysis]
93 Kingsmore SF, Petrikin J, Willig LK, Guest E. Emergency medical genomes: a breakthrough application of precision medicine. Genome Med 2015;7:82. [PMID: 26229553 DOI: 10.1186/s13073-015-0201-z] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 2.3] [Reference Citation Analysis]
94 Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Infant mortality: the contribution of genetic disorders. J Perinatol 2019;39:1611-9. [PMID: 31395954 DOI: 10.1038/s41372-019-0451-5] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
95 Dahmer MK. Whole Genome Sequencing as a First-Line Clinical Test: Almost Ready for Prime Time. Crit Care Med 2021;49:1815-7. [PMID: 34529612 DOI: 10.1097/CCM.0000000000005077] [Reference Citation Analysis]
96 Sanford E, Wong T, Ellsworth KA, Ingulli E, Kingsmore SF. Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1-associated nephrotic syndrome type 4. Cold Spring Harb Mol Case Stud 2020;6:a005470. [PMID: 32843431 DOI: 10.1101/mcs.a005470] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
97 Maggo SD, Savage RL, Kennedy MA. Impact of New Genomic Technologies on Understanding Adverse Drug Reactions. Clin Pharmacokinet 2016;55:419-36. [PMID: 26369774 DOI: 10.1007/s40262-015-0324-9] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
98 Wu X, Yang Y, Zhou L, Long W, Yu B. Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China. Front Pediatr 2022;10:875229. [DOI: 10.3389/fped.2022.875229] [Reference Citation Analysis]
99 Jelin AC, Vora N. Whole Exome Sequencing: Applications in Prenatal Genetics. Obstet Gynecol Clin North Am 2018;45:69-81. [PMID: 29428287 DOI: 10.1016/j.ogc.2017.10.003] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 6.0] [Reference Citation Analysis]
100 Farrell PM, Rock MJ, Baker MW. The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy. Genes (Basel) 2020;11:E401. [PMID: 32276344 DOI: 10.3390/genes11040401] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
101 Walser SA, Werner-Lin A, Mueller R, Miller VA, Biswas S, Bernhardt BA. How do providers discuss the results of pediatric exome sequencing with families? Per Med 2017;14:409-22. [PMID: 28966657 DOI: 10.2217/pme-2017-0015] [Cited by in Crossref: 11] [Cited by in F6Publishing: 7] [Article Influence: 2.2] [Reference Citation Analysis]
102 Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S; RCIGM Investigators. Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis. Cold Spring Harb Mol Case Stud 2017;3:a001966. [PMID: 28550066 DOI: 10.1101/mcs.a001966] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 2.4] [Reference Citation Analysis]
103 Abou Tayoun AN, Krock B, Spinner NB. Sequencing-based diagnostics for pediatric genetic diseases: progress and potential. Expert Rev Mol Diagn 2016;16:987-99. [PMID: 27388938 DOI: 10.1080/14737159.2016.1209411] [Cited by in Crossref: 24] [Cited by in F6Publishing: 18] [Article Influence: 4.0] [Reference Citation Analysis]
104 Umlai UI, Bangarusamy DK, Estivill X, Jithesh PV. Genome sequencing data analysis for rare disease gene discovery. Brief Bioinform 2021:bbab363. [PMID: 34498682 DOI: 10.1093/bib/bbab363] [Reference Citation Analysis]
105 Schuler BA, Nelson ET, Koziura M, Cogan JD, Hamid R, Phillips JA 3rd. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases. J Clin Invest 2022;132:e154942. [PMID: 35362483 DOI: 10.1172/JCI154942] [Reference Citation Analysis]
106 Deuitch N, Soo-Jin Lee S, Char D. Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors. J Genet Couns 2020;29:78-87. [PMID: 31701594 DOI: 10.1002/jgc4.1182] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
107 Borghesi A, Mencarelli MA, Memo L, Ferrero GB, Bartuli A, Genuardi M, Stronati M, Villani A, Renieri A, Corsello G; their respective Scientific Societies. Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant. Ital J Pediatr 2017;43:100. [PMID: 29100554 DOI: 10.1186/s13052-017-0418-0] [Cited by in Crossref: 33] [Cited by in F6Publishing: 23] [Article Influence: 6.6] [Reference Citation Analysis]
108 Buchanan J, Wordsworth S. Evaluating the Outcomes Associated with Genomic Sequencing: A Roadmap for Future Research. Pharmacoecon Open 2019;3:129-32. [PMID: 30284701 DOI: 10.1007/s41669-018-0101-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
109 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]
110 Petrikin JE, Cakici JA, Clark MM, Willig LK, Sweeney NM, Farrow EG, Saunders CJ, Thiffault I, Miller NA, Zellmer L, Herd SM, Holmes AM, Batalov S, Veeraraghavan N, Smith LD, Dimmock DP, Leeder JS, Kingsmore SF. The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants. NPJ Genom Med 2018;3:6. [PMID: 29449963 DOI: 10.1038/s41525-018-0045-8] [Cited by in Crossref: 78] [Cited by in F6Publishing: 69] [Article Influence: 19.5] [Reference Citation Analysis]
111 Fernández-Jaén A, Álvarez S, So EY, Ouchi T, Jiménez de la Peña M, Duat A, Fernández-Mayoralas DM, Fernández-Perrone AL, Albert J, Calleja-Pérez B. Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient. Eur J Paediatr Neurol 2016;20:421-5. [PMID: 26947546 DOI: 10.1016/j.ejpn.2016.02.009] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
112 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]
113 Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN, Friedman J, Gold JJ, Ding Y, Veeraraghavan N, Dimmock D, Kingsmore SF. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med 2018;3:10. [PMID: 29644095 DOI: 10.1038/s41525-018-0049-4] [Cited by in Crossref: 143] [Cited by in F6Publishing: 134] [Article Influence: 35.8] [Reference Citation Analysis]
114 Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr 2017;171:e173438. [PMID: 28973083 DOI: 10.1001/jamapediatrics.2017.3438] [Cited by in Crossref: 182] [Cited by in F6Publishing: 172] [Article Influence: 36.4] [Reference Citation Analysis]
115 Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med 2018;3:16. [PMID: 30002876 DOI: 10.1038/s41525-018-0053-8] [Cited by in Crossref: 186] [Cited by in F6Publishing: 147] [Article Influence: 46.5] [Reference Citation Analysis]
116 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]
117 Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Med 2015;7:100. [PMID: 26419432 DOI: 10.1186/s13073-015-0221-8] [Cited by in Crossref: 144] [Cited by in F6Publishing: 108] [Article Influence: 20.6] [Reference Citation Analysis]
118 Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K. Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. Front Pediatr 2015;3:67. [PMID: 26284228 DOI: 10.3389/fped.2015.00067] [Cited by in Crossref: 104] [Cited by in F6Publishing: 96] [Article Influence: 14.9] [Reference Citation Analysis]
119 Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics 2017;139:e20162252. [PMID: 28096516 DOI: 10.1542/peds.2016-2252] [Cited by in Crossref: 93] [Cited by in F6Publishing: 78] [Article Influence: 18.6] [Reference Citation Analysis]
120 Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL; BabySeq Project Group. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics 2019;143:S6-S13. [PMID: 30600265 DOI: 10.1542/peds.2018-1099C] [Cited by in Crossref: 15] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
121 Anand V, Pournami F, Nandakumar A, Prabhakar J, Jain N. Precision Medicine with Genetic Testing in Neonatal Intensive care. Journal of Child Science 2021;11:e216-7. [DOI: 10.1055/s-0041-1733875] [Reference Citation Analysis]
122 Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R. Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Mol Genet Genomic Med 2019;7:e00796. [PMID: 31192527 DOI: 10.1002/mgg3.796] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
123 Christensen KD, Dukhovny D, Siebert U, Green RC. Assessing the Costs and Cost-Effectiveness of Genomic Sequencing. J Pers Med 2015;5:470-86. [PMID: 26690481 DOI: 10.3390/jpm5040470] [Cited by in Crossref: 57] [Cited by in F6Publishing: 52] [Article Influence: 8.1] [Reference Citation Analysis]
124 Mollison L, Berg JS. Genetic screening: birthright or earned with age? Expert Rev Mol Diagn 2017;17:735-8. [PMID: 28641021 DOI: 10.1080/14737159.2017.1346473] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
125 P Fishler K, Euteneuer JC, Brunelli L. Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States. Int J Neonatal Screen 2022;8:22. [PMID: 35323201 DOI: 10.3390/ijns8010022] [Reference Citation Analysis]
126 Kim J, Shimizu C, Kingsmore SF, Veeraraghavan N, Levy E, Ribeiro Dos Santos AM, Yang H, Flatley J, Hoang LT, Hibberd ML, Tremoulet AH, Harismendy O, Ohno-Machado L, Burns JC. Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility. PLoS One 2017;12:e0170977. [PMID: 28151979 DOI: 10.1371/journal.pone.0170977] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
127 Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. CMAJ 2016;188:E254-60. [PMID: 27241786 DOI: 10.1503/cmaj.150823] [Cited by in Crossref: 52] [Cited by in F6Publishing: 49] [Article Influence: 8.7] [Reference Citation Analysis]
128 Le KK, Whiteside MD, Hopkins JE, Gannon VPJ, Laing CR. Spfy: an integrated graph database for real-time prediction of bacterial phenotypes and downstream comparative analyses. Database (Oxford) 2018;2018:1-10. [PMID: 30212910 DOI: 10.1093/database/bay086] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
129 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]