A Putative Lynch Syndrome Family Carrying MSH2 and MSH6 Variants of Uncertain Significance—Functional Analysis Reveals the Pathogenic One
March 2011
Familial Cancer
Verification of the Three-Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants
November 2010
Human Mutation
Mechanisms of pathogenicity in human MSH2 missense mutants
October 2008
Pathogenicity of MSH2 Missense Mutations Is Typically Associated With Impaired Repair Capability of the Mutated Protein
November 2006
Gastroenterology
Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1
August 2005
MSH6 missense mutations are often associated with no or low cancer susceptibility
August 2004
British Journal of Cancer
Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic?
February 2003
Human Genetics
Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome
May 2002
Human Molecular Genetics
Functional Analysis of MLH1 Mutations Linked to Hereditary Nonpolyposis Colon Cancer
February 2002
Genes Chromosomes Cancer
