Rena A. Godfrey

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke et al. · The American Journal of Human Genetics · 2016 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +14

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 115 citations · Full text

Life Sciences, Genetics, Neuroscience +10

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

William P. Bone, Nicole Washington, Orion J. Buske et al. · Genetics in Medicine · 2015 · 112 citations · Full text

Life Sciences, Bioinformatics, Genetics +17