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For: Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med 2016;18:1075-84. [PMID: 27171546 DOI: 10.1038/gim.2016.17] [Cited by in Crossref: 88] [Cited by in F6Publishing: 77] [Article Influence: 14.7] [Reference Citation Analysis]
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9 Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, Lehman A, Lynd LD, Friedman JM; CAUSES Study. The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia. Mol Genet Genomic Med 2018. [PMID: 29851296 DOI: 10.1002/mgg3.410] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 3.3] [Reference Citation Analysis]
10 Adam S, Birch PH, Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM. Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions. J Genet Couns 2018. [PMID: 30033481 DOI: 10.1007/s10897-018-0281-1] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
11 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]
12 Worthey EA. Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis. Curr Protoc Hum Genet 2017;95:9.24.1-9.24.28. [PMID: 29044471 DOI: 10.1002/cphg.49] [Cited by in Crossref: 7] [Cited by in F6Publishing: 9] [Article Influence: 1.4] [Reference Citation Analysis]
13 Inglese CN, Elliott AM, Lehman A; CAUSES Study. New developmental syndromes: Understanding the family experience. J Genet Couns 2019;28:202-12. [DOI: 10.1002/jgc4.1121] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 4.3] [Reference Citation Analysis]
14 Ormondroyd E, Mackley MP, Blair E, Craft J, Knight JC, Taylor J, Taylor JC, Wilkie AO, Watkins H. Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study. Eur J Hum Genet 2017;25:680-6. [PMID: 28327571 DOI: 10.1038/ejhg.2017.37] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 3.0] [Reference Citation Analysis]
15 Recchia G, Chiappi A, Chandratillake G, Raymond L, Freeman ALJ. Creating genetic reports that are understood by nonspecialists: a case study. Genet Med 2020;22:353-61. [PMID: 31506646 DOI: 10.1038/s41436-019-0649-0] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
16 Elliott AM, Dragojlovic N, Campbell T, Adam S, Souich CD, Fryer M, Lehman A, Karnebeek CV, Lynd LD, Friedman JM. Utilization of telehealth in paediatric genome-wide sequencing: Health services implementation issues in the CAUSES Study. J Telemed Telecare 2021;:1357633X20982737. [PMID: 33470133 DOI: 10.1177/1357633X20982737] [Reference Citation Analysis]
17 Priest JR. A primer to clinical genome sequencing. Curr Opin Pediatr 2017;29:513-9. [PMID: 28786837 DOI: 10.1097/MOP.0000000000000532] [Cited by in Crossref: 14] [Cited by in F6Publishing: 2] [Article Influence: 3.5] [Reference Citation Analysis]
18 Bourgeois FT, Avillach P, Kong SW, Heinz MM, Tran TA, Chakrabarty R, Bickel J, Sliz P, Borglund EM, Kornetsky S, Mandl KD. Development of the Precision Link Biobank at Boston Children's Hospital: Challenges and Opportunities. J Pers Med 2017;7:E21. [PMID: 29244735 DOI: 10.3390/jpm7040021] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
19 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]
20 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] [Reference Citation Analysis]
21 Crellin E, McClaren B, Nisselle A, Best S, Gaff C, Metcalfe S. Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy. Front Genet 2019;10:789. [PMID: 31572433 DOI: 10.3389/fgene.2019.00789] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 7.0] [Reference Citation Analysis]
22 Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP. Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. J Pediatr Genet 2017;6:61-76. [PMID: 28496993 DOI: 10.1055/s-0036-1593968] [Cited by in Crossref: 3] [Cited by in F6Publishing: 27] [Article Influence: 0.5] [Reference Citation Analysis]
23 Montanez K, Berninger T, Willis M, Harding A, Lutgendorf MA. Genetic testing costs and compliance with clinical best practices. J Genet Couns 2020;29:1186-91. [PMID: 32356909 DOI: 10.1002/jgc4.1285] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
24 Liang NSY, Adam S, Elliott AM, Siemens A, du Souich C, Friedman JM, Birch P; CAUSES Study., GenCOUNSEL Study. After genomic testing results: Parents' long-term views. J Genet Couns 2021. [PMID: 34165210 DOI: 10.1002/jgc4.1454] [Reference Citation Analysis]
25 Cook CB, Dragojlovic N, Siemens A, Adam S, du Souich C, van Karnebeek C, Lehman A, Nelson TN, Friedman J, Lynd LD, Elliott AM; CAUSES Study., GenCOUNSEL Study. Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada. Eur J Med Genet 2021;64:104024. [PMID: 32798762 DOI: 10.1016/j.ejmg.2020.104024] [Reference Citation Analysis]
26 Han JY, Lee IG. Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability. Clin Exp Pediatr 2020;63:195-202. [PMID: 32024334 DOI: 10.3345/kjp.2019.00808] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
27 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]
28 Lello L, Raben TG, Yong SY, Tellier LCAM, Hsu SDH. Genomic Prediction of 16 Complex Disease Risks Including Heart Attack, Diabetes, Breast and Prostate Cancer. Sci Rep 2019;9:15286. [PMID: 31653892 DOI: 10.1038/s41598-019-51258-x] [Cited by in Crossref: 19] [Cited by in F6Publishing: 8] [Article Influence: 6.3] [Reference Citation Analysis]
29 De Backer J, Callewaert B, Muiño Mosquera L. Genetics in congenital heart disease. Are we ready for it? Rev Esp Cardiol (Engl Ed) 2020:S1885-5857(20)30226-7. [PMID: 32646792 DOI: 10.1016/j.rec.2020.05.019] [Reference Citation Analysis]
30 Natarajan P, Gold NB, Bick AG, McLaughlin H, Kraft P, Rehm HL, Peloso GM, Wilson JG, Correa A, Seidman JG, Seidman CE, Kathiresan S, Green RC. Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. Sci Transl Med 2016;8:364ra151. [PMID: 27831900 DOI: 10.1126/scitranslmed.aag2367] [Cited by in Crossref: 40] [Cited by in F6Publishing: 37] [Article Influence: 8.0] [Reference Citation Analysis]
31 O'Brien TD, Campbell NE, Potter AB, Letaw JH, Kulkarni A, Richards CS. Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory. Genet Med 2021:S1098-3600(21)04134-4. [PMID: 34906498 DOI: 10.1016/j.gim.2021.09.007] [Reference Citation Analysis]
32 Hayeems RZ, Boycott KM. Genome-wide sequencing technologies: A primer for paediatricians. Paediatr Child Health 2018;23:191-7. [PMID: 29769805 DOI: 10.1093/pch/pxx152] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.2] [Reference Citation Analysis]
33 Wynn J, Lewis K, Amendola LM, Bernhardt BA, Biswas S, Joshi M, McMullen C, Scollon S. Clinical providers' experiences with returning results from genomic sequencing: an interview study. BMC Med Genomics 2018;11:45. [PMID: 29739461 DOI: 10.1186/s12920-018-0360-z] [Cited by in Crossref: 34] [Cited by in F6Publishing: 33] [Article Influence: 8.5] [Reference Citation Analysis]
34 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]
35 McClaren BJ, Crellin E, Janinski M, Nisselle AE, Ng L, Metcalfe SA, Gaff CL. Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning. Front Genet 2020;11:151. [PMID: 32194628 DOI: 10.3389/fgene.2020.00151] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 7.0] [Reference Citation Analysis]
36 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]
37 Hatje K, Rahman RU, Vidal RO, Simm D, Hammesfahr B, Bansal V, Rajput A, Mickael ME, Sun T, Bonn S, Kollmar M. The landscape of human mutually exclusive splicing. Mol Syst Biol 2017;13:959. [PMID: 29242366 DOI: 10.15252/msb.20177728] [Cited by in Crossref: 35] [Cited by in F6Publishing: 28] [Article Influence: 7.0] [Reference Citation Analysis]
38 Stojanovic JR, Miletic A, Peterlin B, Maver A, Mijovic M, Borlja N, Dimitrijevic B, Soldatovic I, Cuturilo G. Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability. J Child Neurol 2020;35:116-31. [PMID: 31623504 DOI: 10.1177/0883073819879835] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 3.3] [Reference Citation Analysis]
39 Lello L, Raben TG, Hsu SDH. Sibling validation of polygenic risk scores and complex trait prediction. Sci Rep 2020;10:13190. [PMID: 32764582 DOI: 10.1038/s41598-020-69927-7] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
40 Sun L, Liang B, Zhu L, Shen Y, He L. The rise of the genetic counseling profession in China. Am J Med Genet C Semin Med Genet 2019;181:170-6. [PMID: 30860676 DOI: 10.1002/ajmg.c.31693] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
41 Nisselle A, Macciocca I, McKenzie F, Vuong H, Dunlop K, McClaren B, Metcalfe S, Gaff C; Australian Genomics Workforce & Education Working Group. Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census. J Genet Couns 2019;28:367-77. [PMID: 30779404 DOI: 10.1002/jgc4.1101] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 5.3] [Reference Citation Analysis]
42 Borle K, Dey A, Carrion P, Austin J, Elliott AM; GenCOUNSEL Study. Genetic counseling research and COVID-19: A lesson in resiliency. J Genet Couns 2021. [PMID: 34510629 DOI: 10.1002/jgc4.1502] [Reference Citation Analysis]
43 Pearce C, Goettke E, Hallowell N, McCormack P, Flinter F, McKevitt C. Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis. Genet Med 2019;21:2667-75. [PMID: 31186523 DOI: 10.1038/s41436-019-0579-x] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
44 Stoll K, Kubendran S, Cohen SA. The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine. Am J Med Genet 2018;178:24-37. [DOI: 10.1002/ajmg.c.31602] [Cited by in Crossref: 66] [Cited by in F6Publishing: 52] [Article Influence: 16.5] [Reference Citation Analysis]
45 Elliott AM. Genetic Counseling and Genome Sequencing in Pediatric Rare Disease. Cold Spring Harb Perspect Med 2020;10:a036632. [PMID: 31501267 DOI: 10.1101/cshperspect.a036632] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
46 Bernier A, Taylor IE. Rare disease data stewardship in Canada. FACETS 2020;5:836-63. [DOI: 10.1139/facets-2020-0050] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
47 Harkins RA, Patel SP, Flowers CR. Cost burden of diffuse large B-cell lymphoma. Expert Rev Pharmacoecon Outcomes Res 2019;19:645-61. [PMID: 31623476 DOI: 10.1080/14737167.2019.1680288] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
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49 Harkins RA, Chang A, Patel SP, Lee MJ, Goldstein JS, Merdan S, Flowers CR, Koff JL. Remaining challenges in predicting patient outcomes for diffuse large B-cell lymphoma. Expert Rev Hematol 2019;12:959-73. [PMID: 31513757 DOI: 10.1080/17474086.2019.1660159] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
50 Monohan K, Purvis R, Sexton A, Kentwell M, Thet M, Stafford L, Forrest L. Assessing the acceptability, feasibility, and usefulness of a psychosocial screening tool to patients and clinicians in a clinical genetics service in Australia. J Genet Couns 2021. [PMID: 34788484 DOI: 10.1002/jgc4.1532] [Reference Citation Analysis]
51 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]
52 Wain KE, Palen E, Savatt JM, Shuman D, Finucane B, Seeley A, Challman TD, Myers SM, Martin CL. The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants. Hum Mutat 2018;39:1660-7. [PMID: 30311381 DOI: 10.1002/humu.23607] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 2.3] [Reference Citation Analysis]
53 Johnson LM, Valdez JM, Quinn EA, Sykes AD, McGee RB, Nuccio R, Hines-Dowell SJ, Baker JN, Kesserwan C, Nichols KE, Mandrell BN. Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics. Cancer 2017;123:2352-9. [PMID: 28192596 DOI: 10.1002/cncr.30581] [Cited by in Crossref: 33] [Cited by in F6Publishing: 30] [Article Influence: 6.6] [Reference Citation Analysis]
54 Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel A, Mosca-boidron A, Masurel-paulet A, Lehalle D, Jean-marçais N, Lefebvre M, Vabres P, El Chehadeh-djebbar S, Philippe C, Tran Mau-them F, St-onge J, Jouan T, Chevarin M, Poé C, Carmignac V, Vitobello A, Callier P, Rivière J, Faivre L, Thauvin-robinet C; Orphanomix Physicians' Group. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. Genet Med 2018;20:645-54. [DOI: 10.1038/gim.2017.162] [Cited by in Crossref: 80] [Cited by in F6Publishing: 76] [Article Influence: 16.0] [Reference Citation Analysis]
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56 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]
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