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ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL. Savatt JM, et al. Among authors: wain ke. Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633. Hum Mutat. 2018. PMID: 30311371 Free PMC article.
Towards an evidence-based process for the clinical interpretation of copy number variation.
Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Riggs ER, et al. Among authors: wain ke. Clin Genet. 2012 May;81(5):403-12. doi: 10.1111/j.1399-0004.2011.01818.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097934 Free PMC article. Review.
Chromosomal microarray impacts clinical management.
Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VC, Miller DT. Riggs ER, et al. Among authors: wain ke. Clin Genet. 2014 Feb;85(2):147-53. doi: 10.1111/cge.12107. Epub 2013 Feb 21. Clin Genet. 2014. PMID: 23347240
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Waggoner D, Wain KE, Dubuc AM, Conlin L, Hickey SE, Lamb AN, Martin CL, Morton CC, Rasmussen K, Schuette JL, Schwartz S, Miller DT; ACMG Professional Practice and Guidelines Committee. Waggoner D, et al. Among authors: wain ke. Genet Med. 2018 Oct;20(10):1105-1113. doi: 10.1038/s41436-018-0040-6. Epub 2018 Jun 18. Genet Med. 2018. PMID: 29915380 Free PMC article. Review.
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.
Ormond KE, Hallquist MLG, Buchanan AH, Dondanville D, Cho MK, Smith M, Roche M, Brothers KB, Coughlin CR 2nd, Hercher L, Hudgins L, Jamal S, Levy HP, Raskin M, Stosic M, Uhlmann W, Wain KE, Currey E, Faucett WA. Ormond KE, et al. Among authors: wain ke. Genet Med. 2019 Mar;21(3):727-735. doi: 10.1038/s41436-018-0093-6. Epub 2018 Jul 6. Genet Med. 2019. PMID: 29976988 Free PMC article.
34 results