Vandana Shashi

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

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 · 240 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

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

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 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Andrea Accogli, Sara Calabretta, Judith St‐Onge et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17