Literature DB >> 30710526

RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome.

Blair R Conner1, Felicia Hernandez1, Beth Souders1, Tyler Landrith1, C Richard Boland2, Rachid Karam3.   

Abstract

Entities:  

Keywords:  HNPCC; Lynch Syndrome; MSH2; RNA-Seq; Tandem Duplication

Mesh：

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Year:  2019        PMID： 30710526     DOI： 10.1053/j.gastro.2019.01.248

Source DB:  PubMed          Journal:  Gastroenterology        ISSN： 0016-5085            Impact factor:   22.682


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  3 in total

Review 1.  Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.

Authors:  Mackenzie D Postel; Julie O Culver; Charité Ricker; David W Craig
Journal:  Hum Mutat       Date:  2022-05-18       Impact factor: 4.700

Review 2.  Incorporating Colorectal Cancer Genetic Risk Assessment into Gastroenterology Practice.

Authors:  Benjamin Stern; Thomas McGarrity; Maria Baker
Journal:  Curr Treat Options Gastroenterol       Date:  2019-12

3.  Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.

Authors:  Carolyn Horton; Ashley Cass; Blair R Conner; Lily Hoang; Heather Zimmermann; Nelly Abualkheir; David Burks; Dajun Qian; Bhuvan Molparia; Huy Vuong; Holly LaDuca; Jessica Grzybowski; Kate Durda; Robert Pilarski; Jessica Profato; Katherine Clayback; Martin Mahoney; Courtney Schroeder; Wilfredo Torres-Martinez; Aaron Elliott; Elizabeth C Chao; Rachid Karam
Journal:  NPJ Genom Med       Date:  2022-08-25       Impact factor: 6.083
  3 in total

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