Robyn Whitney

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Incidence of sudden unexpected death in epilepsy in children is similar to adults

Anne E. Keller, Robyn Whitney, Shelly‐Anne Li et al. · Neurology · 2018 · 123 citations

Medicine, Neurology, Pediatrics +13

A prospective open‐label trial of a <scp>CBD</scp>/<scp>THC</scp> cannabis oil in dravet syndrome

Bláthnaid McCoy, Laura Wang, Maria Zak et al. · Annals of Clinical and Translational Neurology · 2018 · 100 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +17

KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

Felippe Borlot, Ahmed Abushama, Nadine Morrison‐Levy et al. · Epilepsia · 2020 · 85 citations · Full text

Medicine, Genetics, Molecular Genetics +15