Associated Papers
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.
O'Brien TD et al.
American Journal of Human Genetics, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A et al.
Human Mutation, 2022
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
Hinrichsen I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
Gueneau E et al.
Nature Structural & Molecular Biology, 2013
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
Pritchard CC et al.
The Journal of Molecular Diagnostics : Jmd, 2012
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.
Mueller J et al.
Cancer Research, 2009
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Chao EC et al.
Human Mutation, 2008
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
Lucci-Cordisco E et al.
Cancer Biomarkers : Section a of Disease Markers, 2006
Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
Kondo E et al.
Nucleic Acids Research, 2001
Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Mutation, 2000
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
Syngal S et al.
Jama, 1999
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
Guerrette S et al.
The Journal of Biological Chemistry, 1999
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
Shimodaira H et al.
Nature Genetics, 1998
RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
Kohonen-Corish M et al.
American Journal of Human Genetics, 1996
The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.
Medeiros F et al.
The Journal of Molecular Diagnostics : Jmd, 0