Janelle E. O’Brien

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O’Brien, Miriam H. Meisler et al. · The American Journal of Human Genetics · 2012 · 439 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Genome-wide patterns of gene flow across a house mouse hybrid zone

Katherine C. Teeter, Bret A. Payseur, Leslie W. Harris et al. · Genome Research · 2007 · 268 citations · Full text

Life Sciences, Biology, Genetics +17

Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism

Yu Liu, Luis F. Lopez‐Santiago, Yukun Yuan et al. · Annals of Neurology · 2013 · 244 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

Lauren Gehman, Pratap Meera, Peter Stoilov et al. · Genes & Development · 2012 · 218 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

Mark Estación, Janelle E. O’Brien, Allison Conravey et al. · Neurobiology of Disease · 2014 · 103 citations · Full text

Life Sciences, Genetics, Neuroscience +17