Rebecca C. Spillmann

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie et al. · Genetics in Medicine · 2015 · 342 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Quinidine in the treatment of<scp>KCNT</scp>1‐positive epilepsies

Mohamad A. Mikati, Yong‐hui Jiang, Michael P. Carboni et al. · Annals of Neurology · 2015 · 223 citations

Medicine, Pharmacology, Pharmacotherapy +17

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

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

Allyn McConkie Rosell, Loren Peña, Kelly Schoch et al. · Journal of Genetic Counseling · 2016 · 129 citations · Full text

Life Sciences, Genetics, Pediatrics +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