Kym M. Boycott

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 468 citations · Full text

Genetics, Genetic Epidemiology, Databases +21

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott, Ana Rath, Jessica X. Chong et al. · The American Journal of Human Genetics · 2017 · 434 citations · Full text

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Mutations in EZH2 Cause Weaver Syndrome

William T. Gibson, Rebecca L. Hood, Shing H. Zhan et al. · The American Journal of Human Genetics · 2011 · 303 citations · Full text