Shruti Bhide

机构：San Diego State University

发表论文 21 篇 · 总被引 823 次 · h-index 11

代表论文

• Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome (2012 · The American Journal of Human Genetics · 被引 124)
• Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels (2017 · PLoS ONE · 被引 121)
• Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (2011 · Genetics in Medicine · 被引 91)
• The skin microbiome of elasmobranchs follows phylosymbiosis, but in teleost fishes, the microbiomes converge (2020 · Microbiome · 被引 85)
• Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel (2013 · PLoS ONE · 被引 77)
• DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation (2012 · The American Journal of Human Genetics · 被引 76)