Leslie G. Biesecker

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green, Jonathan S. Berg, Wayne W. Grody et al. · Genetics in Medicine · 2013 · 2.5K citations · Full text

Life Sciences, Molecular Genetics, Molecular Medicine +16

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur, Teri A. Manolio, David Dimmock et al. · Nature · 2014 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 887 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 881 citations

Life Sciences, Genetics, Molecular Genetics +14

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch et al. · Genome Medicine · 2019 · 621 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13