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 · 1.9K citations · Full text

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 · 564 citations · Full text

Sequencing, Medicine, Genetics +14

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

Christian P. Schaaf, Manuel L. Gonzalez‐Garay, Fan Xia et al. · Nature Genetics · 2013 · 296 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

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 · 270 citations

Genetics, Pathology, Disease-causing Point Mutations +19

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone, Carlos A. Bacino, Chad A. Shaw et al. · Human Mutation · 2010 · 237 citations

Array Cgh, Genetics, Diagnosis +18