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For: Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR, Majewski J, Boycott KM; FORGE Canada Consortium., Care4Rare Canada Consortium. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet 2016;89:275-84. [PMID: 26283276 DOI: 10.1111/cge.12654] [Cited by in Crossref: 212] [Cited by in F6Publishing: 189] [Article Influence: 30.3] [Reference Citation Analysis]
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14 Vetro A, Goidin D, Lesende I, Limongelli I, Ranzani GN, Novara F, Bonaglia MC, Rinaldi B, Franchi F, Manolakos E, Lonardo F, Scarano F, Scarano G, Costantino L, Tedeschi S, Giglio S, Zuffardi O. Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH. Clin Genet 2018;93:545-56. [PMID: 28556904 DOI: 10.1111/cge.13060] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
15 Makhdoom EUH, Anwar H, Baig SM, Hussain G. Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families. Pak J Med Sci 2022;38:84-9. [PMID: 35035405 DOI: 10.12669/pjms.38.1.4464] [Reference Citation Analysis]
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19 Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol 2016;29:621-7. [PMID: 27454578 DOI: 10.1097/WCO.0000000000000371] [Cited by in Crossref: 28] [Cited by in F6Publishing: 18] [Article Influence: 7.0] [Reference Citation Analysis]
20 Guo W, Zhu X, Yan L, Qiao J. The present and future of whole-exome sequencing in studying and treating human reproductive disorders. Journal of Genetics and Genomics 2018;45:517-25. [DOI: 10.1016/j.jgg.2018.08.004] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.8] [Reference Citation Analysis]
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23 Kaplinski L, Möls M, Puurand T, Pajuste FD, Remm M. KATK: Fast genotyping of rare variants directly from unmapped sequencing reads. Hum Mutat 2021;42:777-86. [PMID: 33715282 DOI: 10.1002/humu.24197] [Reference Citation Analysis]
24 Butz H, Nyírő G, Kurucz PA, Likó I, Patócs A. Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice. Hum Genet 2021;140:113-34. [PMID: 32222824 DOI: 10.1007/s00439-020-02148-0] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 4.5] [Reference Citation Analysis]
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26 Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genet Med 2018;20:745-53. [PMID: 29261186 DOI: 10.1038/gim.2017.173] [Cited by in Crossref: 34] [Cited by in F6Publishing: 26] [Article Influence: 6.8] [Reference Citation Analysis]
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29 Honjo RS, Castro MAA, Ferraciolli SF, Soares Junior LAV, Pastorino AC, Bertola DR, Miyake N, Matsumoto N, Kim CA. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. Am J Med Genet A 2021;185:1561-8. [PMID: 33645901 DOI: 10.1002/ajmg.a.62140] [Reference Citation Analysis]
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33 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]
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35 Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M. Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families. Front Genet 2019;10:425. [PMID: 31428121 DOI: 10.3389/fgene.2019.00425] [Cited by in Crossref: 15] [Cited by in F6Publishing: 10] [Article Influence: 5.0] [Reference Citation Analysis]
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