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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participantsMichelle L Thompson, Candice R Finnila, Kevin M Bowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
A state-based approach to genomics for rare disease and population screeningKelly M East, Whitley V Kelley, Ashley Cannon, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
American Journal of Human Genetics|October 27, 2020
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research StudiesLaura M Amendola, Kathleen Muenzen, Leslie G Biesecker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centersRashesh V Sanghvi, Christian J Buhay, Bradford C Powell, et al.
American Journal of Human Genetics|December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismFrederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.
American Journal of Human Genetics|May 17, 2016
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumLaura M Amendola, Gail P Jarvik, Michael C Leo, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Molecular Genetics & Genomic Medicine|August 23, 2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experienceKathryn M Porter, Tia L Kauffman, Barbara A Koenig, et al.
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