Vandana Shashi

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

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie et al. · Genetics in Medicine · 2015 · 337 citations · Full text

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge et al. · Genetics in Medicine · 2014 · 236 citations · Full text

Genetics, Endocytic Pathway, Protein Degradation +6

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 · 220 citations · Full text

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 111 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +11

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

Slavé Petrovski, Vandana Shashi, Steven Petrou et al. · Molecular Case Studies · 2015 · 27 citations · Full text