Barbara N. Pusey

An integrated encyclopedia of DNA elements in the human genome

Ian Dunham, Anshul Kundaje, Shelley Force Aldred et al. · The Journal of the American Medical Association (JAMA) Network (American Medical Association) · 2012 · 2.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Sequencing the nuclear genome of the extinct woolly mammoth

Webb Miller, Daniela I. Drautz, Aakrosh Ratan et al. · Nature · 2008 · 346 citations · Full text

Life Sciences, Genetics, Zoology +12

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