Joshua Somar

机构：Memorial Sloan Kettering Cancer Center

发表论文 13 篇 · 总被引 363 次 · h-index 8

代表论文

• 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)
• Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations (2023 · npj Precision Oncology · 被引 52)
• Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma (2023 · Journal of Clinical Oncology · 被引 47)
• Fumarate hydrataseFHc.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma (2019 · Human Mutation · 被引 45)
• CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site (2016 · PLoS ONE · 被引 17)
• The germline CDH1 c.48 G > C substitution contributes to cancer predisposition through generation of a pro-invasive mutation (2014 · Mutation research. Fundamental and molecular mechanisms of mutagenesis · 被引 16)