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For: ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med 2012;14:759-61. [PMID: 22863877 DOI: 10.1038/gim.2012.74] [Cited by in Crossref: 160] [Cited by in F6Publishing: 134] [Article Influence: 16.0] [Reference Citation Analysis]
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11 Suarez CJ, Yu L, Downs N, Costa HA, Stevenson DA. Promoting appropriate genetic testing: the impact of a combined test review and consultative service. Genet Med 2017;19:1049-54. [DOI: 10.1038/gim.2016.219] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 2.6] [Reference Citation Analysis]
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14 Burke W, Antommaria AH, Bennett R, Botkin J, Clayton EW, Henderson GE, Holm IA, Jarvik GP, Khoury MJ, Knoppers BM, Press NA, Ross LF, Rothstein MA, Saal H, Uhlmann WR, Wilfond B, Wolf SM, Zimmern R. Recommendations for returning genomic incidental findings? We need to talk! Genet Med 2013;15:854-9. [PMID: 23907645 DOI: 10.1038/gim.2013.113] [Cited by in Crossref: 209] [Cited by in F6Publishing: 194] [Article Influence: 23.2] [Reference Citation Analysis]
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16 Wou K, Chung WK, Wapner RJ. Laboratory considerations for prenatal genetic testing. Semin Perinatol 2018;42:307-13. [PMID: 30206017 DOI: 10.1053/j.semperi.2018.07.020] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
17 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]
18 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]
19 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]
20 Godley LA. Inherited predisposition to acute myeloid leukemia. Semin Hematol 2014;51:306-21. [PMID: 25311743 DOI: 10.1053/j.seminhematol.2014.08.001] [Cited by in Crossref: 56] [Cited by in F6Publishing: 41] [Article Influence: 7.0] [Reference Citation Analysis]
21 LaHaye S, Corsmeier D, Basu M, Bowman JL, Fitzgerald-Butt S, Zender G, Bosse K, McBride KL, White P, Garg V. Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. Circ Cardiovasc Genet 2016;9:320-9. [PMID: 27418595 DOI: 10.1161/CIRCGENETICS.115.001324] [Cited by in Crossref: 35] [Cited by in F6Publishing: 20] [Article Influence: 5.8] [Reference Citation Analysis]
22 Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. J Mol Diagn 2016;18:657-67. [PMID: 27376475 DOI: 10.1016/j.jmoldx.2016.04.002] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 5.2] [Reference Citation Analysis]
23 Nestor JG, Li AJ, King KL, Husain SA, McIntosh TJ, Sawinski D, Iltis AS, Goodman MS, Walsh HA, DuBois JM, Mohan S. Impact of education on APOL1 testing attitudes among prospective living kidney donors. Clin Transplant 2021;:e14516. [PMID: 34661305 DOI: 10.1111/ctr.14516] [Reference Citation Analysis]
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25 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]
26 Zech M, Wagner M, Schormair B, Oexle K, Winkelmann J. [Exome diagnostics in neurology]. Nervenarzt 2019;90:131-7. [PMID: 30645660 DOI: 10.1007/s00115-018-0667-1] [Reference Citation Analysis]
27 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]
28 Fecteau H, Vogel KJ, Hanson K, Morrill-Cornelius S. The evolution of cancer risk assessment in the era of next generation sequencing. J Genet Couns 2014;23:633-9. [PMID: 24756768 DOI: 10.1007/s10897-014-9714-7] [Cited by in Crossref: 48] [Cited by in F6Publishing: 37] [Article Influence: 6.0] [Reference Citation Analysis]
29 Bromberg Y. Building a genome analysis pipeline to predict disease risk and prevent disease. J Mol Biol 2013;425:3993-4005. [PMID: 23928561 DOI: 10.1016/j.jmb.2013.07.038] [Cited by in Crossref: 28] [Cited by in F6Publishing: 18] [Article Influence: 3.1] [Reference Citation Analysis]
30 Hitch K, Joseph G, Guiltinan J, Kianmahd J, Youngblom J, Blanco A. Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing. J Genet Couns 2014;23:539-51. [PMID: 24449059 DOI: 10.1007/s10897-014-9687-6] [Cited by in Crossref: 50] [Cited by in F6Publishing: 43] [Article Influence: 6.3] [Reference Citation Analysis]
31 Sugino S, Janicki PK. Pharmacogenetics of chemotherapy-induced nausea and vomiting. Pharmacogenomics 2015;16:149-60. [DOI: 10.2217/pgs.14.168] [Cited by in Crossref: 15] [Cited by in F6Publishing: 16] [Article Influence: 2.1] [Reference Citation Analysis]
32 Stevens B. Impact of Emerging Technologies in Prenatal Genetic Counseling. Cold Spring Harb Perspect Med 2020;10:a036517. [PMID: 31570384 DOI: 10.1101/cshperspect.a036517] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
33 Oberg JA, Glade Bender JL, Sulis ML, Pendrick D, Sireci AN, Hsiao SJ, Turk AT, Dela Cruz FS, Hibshoosh H, Remotti H, Zylber RJ, Pang J, Diolaiti D, Koval C, Andrews SJ, Garvin JH, Yamashiro DJ, Chung WK, Emerson SG, Nagy PL, Mansukhani MM, Kung AL. Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. Genome Med 2016;8:133. [PMID: 28007021 DOI: 10.1186/s13073-016-0389-6] [Cited by in Crossref: 81] [Cited by in F6Publishing: 77] [Article Influence: 13.5] [Reference Citation Analysis]
34 Cutting E, Banchero M, Beitelshees AL, Cimino JJ, Fiol GD, Gurses AP, Hoffman MA, Jeng LJ, Kawamoto K, Kelemen M, Pincus HA, Shuldiner AR, Williams MS, Pollin TI, Overby CL. User-centered design of multi-gene sequencing panel reports for clinicians. J Biomed Inform 2016;63:1-10. [PMID: 27423699 DOI: 10.1016/j.jbi.2016.07.014] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
35 Swanson A, Ramos E, Snyder H. Next Generation Sequencing is the Impetus for the Next Generation of Laboratory-Based Genetic Counselors. J Genet Counsel 2014;23:647-54. [DOI: 10.1007/s10897-013-9684-1] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 2.6] [Reference Citation Analysis]
36 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]
37 Shen T, Lee A, Shen C, Lin CJ. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders. Genet Res (Camb) 2015;97:e15. [PMID: 26365496 DOI: 10.1017/S0016672315000166] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 1.9] [Reference Citation Analysis]
38 Nestor JG, Groopman EE, Gharavi AG. Towards precision nephrology: the opportunities and challenges of genomic medicine. J Nephrol 2018;31:47-60. [PMID: 29043570 DOI: 10.1007/s40620-017-0448-0] [Cited by in Crossref: 9] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
39 Martin CL, Wain KE, Oetjens MT, Tolwinski K, Palen E, Hare-Harris A, Habegger L, Maxwell EK, Reid JG, Walsh LK, Myers SM, Ledbetter DH. Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. JAMA Psychiatry 2020;77:1276-85. [PMID: 32697297 DOI: 10.1001/jamapsychiatry.2020.2159] [Cited by in Crossref: 14] [Cited by in F6Publishing: 10] [Article Influence: 7.0] [Reference Citation Analysis]
40 Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol 2014;76:473-83. [PMID: 25131622 DOI: 10.1002/ana.24251] [Cited by in Crossref: 163] [Cited by in F6Publishing: 144] [Article Influence: 20.4] [Reference Citation Analysis]
41 Maclachlan A, Watson SP, Morgan NV. Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing. Platelets 2017;28:14-9. [PMID: 27348543 DOI: 10.1080/09537104.2016.1195492] [Cited by in Crossref: 24] [Cited by in F6Publishing: 19] [Article Influence: 4.0] [Reference Citation Analysis]
42 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
43 Ream MA, Patel AD. Obtaining genetic testing in pediatric epilepsy. Epilepsia 2015;56:1505-14. [DOI: 10.1111/epi.13122] [Cited by in Crossref: 25] [Cited by in F6Publishing: 17] [Article Influence: 3.6] [Reference Citation Analysis]
44 Sankaran VG, Gallagher PG. Applications of high-throughput DNA sequencing to benign hematology. Blood 2013;122:3575-82. [PMID: 24021670 DOI: 10.1182/blood-2013-07-460337] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 1.8] [Reference Citation Analysis]
45 Birkeland AC, Uhlmann WR, Brenner JC, Shuman AG. Getting personal: Head and neck cancer management in the era of genomic medicine. Head Neck 2016;38 Suppl 1:E2250-8. [PMID: 25995036 DOI: 10.1002/hed.24132] [Cited by in Crossref: 6] [Cited by in F6Publishing: 12] [Article Influence: 0.9] [Reference Citation Analysis]
46 Brothers KB, Vassy JL, Green RC. Reconciling Opportunistic and Population Screening in Clinical Genomics. Mayo Clin Proc 2019;94:103-9. [PMID: 30611438 DOI: 10.1016/j.mayocp.2018.08.028] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 4.7] [Reference Citation Analysis]
47 Chitty LS, Friedman JM, Langlois S. Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus? Prenat Diagn 2016;36:15-9. [PMID: 26525746 DOI: 10.1002/pd.4718] [Cited by in Crossref: 13] [Cited by in F6Publishing: 8] [Article Influence: 1.9] [Reference Citation Analysis]
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50 Sutton AL, Robin NH. Clinical application of whole exome sequencing: not (yet) ready for primetime. Curr Opin Pediatr 2012;24:663-4. [PMID: 23080129 DOI: 10.1097/MOP.0b013e32835a1996] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
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52 Mak CC, Leung GK, Mok GT, Yeung KS, Yang W, Fung CW, Chan SH, Lee SL, Lee NC, Pfundt R, Lau YL, Chung BH. Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey. NPJ Genom Med 2018;3:19. [PMID: 30109123 DOI: 10.1038/s41525-018-0056-5] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
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