David B. Everman

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 · 872 citations · Full text

Coding exons function as tissue-specific enhancers of nearby genes

Ramon Y. Birnbaum, E. Josephine Clowney, Orly Agamy et al. · Genome Research · 2012 · 260 citations · Full text

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong et al. · The American Journal of Human Genetics · 2014 · 214 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 211 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

John A. Martignetti, Lifeng Tian, Dong Li et al. · The American Journal of Human Genetics · 2013 · 204 citations · Full text

Mendelian Disorder, Genetic Disorder, Pathology +2