Yaping Yang

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Christian P. Schaaf, Manuel L. Gonzalez‐Garay, Fan Xia et al. · Nature Genetics · 2013 · 305 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Mutations in<i>SYNGAP1</i>Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Martin H. Berryer, Fadi F. Hamdan, Laura L. Klitten et al. · Human Mutation · 2012 · 280 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James et al. · Genetics in Medicine · 2015 · 242 citations · Full text

Medicine, Genetics, Molecular Genetics +13