Yvonne Chekaluk

发表论文 33 篇 · 总被引 1181 次 · h-index 10

代表论文

• Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing (2015 · PLoS Genetics · 被引 305)
• Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing (2017 · BMC Medical Genomics · 被引 162)
• Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development (2016 · PLoS Genetics · 被引 130)
• A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex (2014 · Human Molecular Genetics · 被引 57)
• BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site in a Human Mesothelioma Cell Line (2015 · PLoS ONE · 被引 10)
• Targeted deletion of Tsc1 causes fatal cardiomyocyte hyperplasia independently of afterload (2014 · Cardiovascular Pathology · 被引 9)