Kelly Schoch

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C. Need, Vandana Shashi, Yuki Hitomi et al. · Journal of Medical Genetics · 2012 · 433 citations · Full text

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

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Vandana Shashi, Allyn McConkie‐Rosell, Bruce Rosell et al. · Genetics in Medicine · 2013 · 288 citations

Bioinformatics, Medicine, Genetics +9

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

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

Julia Wang, Rami Al‐Ouran, Yanhui Hu et al. · The American Journal of Human Genetics · 2017 · 217 citations · Full text