Alec A. Weech

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

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch et al. · Genetics in Medicine · 2017 · 52 citations

Life Sciences, Genetics, Molecular Genetics +16

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Kelly Schoch, Linyan Meng, Szabolcs Szelinger et al. · The American Journal of Human Genetics · 2017 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations

Maher Shahrour, Orna Staretz‐Chacham, Danit Dayan et al. · Clinical Genetics · 2016 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17