Prashant Sharma

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 · 181 citations · Full text

Disease Diagnosis, Network Science, Health Informatics +12

Loss of SUMO1 in mice affects RanGAP1 localization and formation of PML nuclear bodies, but is not lethal as it can be compensated by SUMO2 or SUMO3

Evgenij Evdokimov, Prashant Sharma, Stephen J. Lockett et al. · Journal of Cell Science · 2008 · 148 citations

Knockout Mouse, Mitophagy, Systems Biology +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 · 118 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +11

The Nedd4-binding partner 1 (N4BP1) protein is an inhibitor of the E3 ligase Itch

Andrew Oberst, Martina Malatesta, Rami I. Aqeilan et al. · Proceedings of the National Academy of Sciences · 2007 · 116 citations · Full text

Molecular Biology, E6ap C Terminus, Signaling Pathway +17

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 108 citations · Full text

Neurology, Neuroscience, Molecular Neurobiology +4