Brett Copeland

Diagnostic Utility of Exome Sequencing for Kidney Disease

Emily Groopman, Maddalena Marasà, Sophia Cameron‐Christie et al. · New England Journal of Medicine · 2018 · 773 citations · Full text

Medicine, Genetics, Nephrology +15

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang et al. · Nature Genetics · 2015 · 216 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

Ayal B. Gussow, Brett Copeland, Ryan S. Dhindsa et al. · PLoS ONE · 2017 · 171 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

Seung Tae Baek, Brett Copeland, Eun-Jin Yun et al. · Nature Medicine · 2015 · 124 citations · Full text

Medicine, Developmental Biology, Neuroscience +16