Jennefer N. Kohler

Dynamic landscape and regulation of RNA editing in mammals

Meng How Tan, Qin Li, Raghuvaran Shanmugam et al. · Nature · 2017 · 681 citations

Life Sciences, Genetics, Molecular Biology +12

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Laure Frésard, Craig Smail, Nicole M. Ferraro et al. · Nature Medicine · 2019 · 355 citations

Life Sciences, Genetics, Molecular Genetics +16

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

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle et al. · Genetics in Medicine · 2018 · 111 citations · Full text

Medicine, Genetics, Health Informatics +17