Shruti Bhide

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Bobby G. Ng, Karl Hackmann, Melanie A. Jones et al. · The American Journal of Human Genetics · 2012 · 124 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +5

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

Holly LaDuca, Kelly D. Farwell, Huy Gia Vuong et al. · PLoS ONE · 2017 · 111 citations · Full text

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

Melanie A. Jones, Shruti Bhide, Ephrem Chin et al. · Genetics in Medicine · 2011 · 90 citations · Full text

Bioinformatics, Dna Sequencing, Next Generation +13

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

C. Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer et al. · PLoS ONE · 2013 · 77 citations · Full text

Genetics, Pathology, Disease Gene Identification +17

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Melanie A. Jones, Bobby Ng, Shruti Bhide et al. · The American Journal of Human Genetics · 2012 · 75 citations · Full text

Somatic Variant, Mendelian Disorder, Genetic Disorder +11