Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1
August 2005
Gastroenterology
Pathogenicity of MSH2 Missense Mutations Is Typically Associated With Impaired Repair Capability of the Mutated Protein
November 2006
Mechanisms of pathogenicity in human MSH2 missense mutants
October 2008
Human Mutation
Verification of the Three-Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants
November 2010
A Putative Lynch Syndrome Family Carrying MSH2 and MSH6 Variants of Uncertain Significance—Functional Analysis Reveals the Pathogenic One
March 2011
Familial Cancer
Mismatch Repair Analysis of Inherited MSH2 and/or MSH6 Variation Pairs Found in Cancer Patients
May 2012
Application of a 5-Tiered Scheme for Standardized Classification of 2,360 Unique Mismatch Repair Gene Variants in the InSiGHT Locus-Specific Database
December 2013
Nature Genetic
Assessing How Reduced Expression Levels of the Mismatch Repair Genes MLH1, MSH2, and MSH6 Affect Repair Efficiency
June 2014
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
September 2016
