W. Andrew Faucett

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Frederick E. Dewey, Michael F. Murray, John D. Overton et al. · Science · 2016 · 602 citations

Medicine, Genetics, Molecular Genetics +17

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

David J. Carey, Samantha N. Fetterolf, F. Daniel Davis et al. · Genetics in Medicine · 2016 · 493 citations · Full text

Public Health, Biomedical Informatics, Community Health +16

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Flore Zufferey, Elliott H. Sherr, Noam D. Beckmann et al. · Journal of Medical Genetics · 2012 · 357 citations · Full text

Medicine, Genetics, Psychiatry +17

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Debra D’Angelo, Sébastien Lebon, Qixuan Chen et al. · JAMA Psychiatry · 2015 · 296 citations · Full text

Life Sciences, Behavioral Sciences, Genetics +17

Exome Sequencing–Based Screening for <i>BRCA1/2</i> Expected Pathogenic Variants Among Adult Biobank Participants

Kandamurugu Manickam, Adam H. Buchanan, M. Schwartz et al. · JAMA Network Open · 2018 · 219 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17