Associated Papers
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Frederiksen JH et al.
Molecular Genetics & Genomic Medicine, 2024
Identifying predictors of glioma evolution from longitudinal sequencing.
Mu Q et al.
Science Translational Medicine, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Noncoding Aberrations in Mismatch Repair Genes Underlie a Substantial Part of the Missing Heritability in Lynch Syndrome.
Te Paske IBAW et al.
Gastroenterology, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.
Mahdouani M et al.
Plos One, 2022
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
Houlleberghs H et al.
Journal of Medical Genetics, 2020
Mechanisms and therapeutic implications of hypermutation in gliomas.
Touat M et al.
Nature, 2020
Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.
Shin K et al.
Cancers, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.
Rashid MU et al.
Hereditary Cancer in Clinical Practice, 2019
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ et al.
Human Mutation, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Mutation rates, spectra, and genome-wide distribution of spontaneous mutations in mismatch repair deficient yeast.
Lang GI et al.
G3 (bethesda, Md.), 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I et al.
Human Mutation, 2008
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E et al.
International Journal of Cancer, 2005
MSH2 missense mutations alter cisplatin cytotoxicity and promote cisplatin-induced genome instability.
Clodfelter JE et al.
Nucleic Acids Research, 2005
Cancer risk in 348 French MSH2 or MLH1 gene carriers.
Parc Y et al.
Journal of Medical Genetics, 2003
Mutator phenotypes of common polymorphisms and missense mutations in MSH2.
Drotschmann K et al.
Current Biology : Cb, 1999