Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.
Tam B et al.
International Journal of Molecular Sciences, 2024
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A et al.
Human Mutation, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.
Huang F et al.
Scientific Reports, 2022
Recurrent oligodendroglioma with changed 1p/19q status.
Barresi V et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
Laish I et al.
Breast Cancer Research and Treatment, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
Houlleberghs H et al.
Journal of Medical Genetics, 2020
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.
Bush L et al.
Familial Cancer, 2019
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Shirts BH et al.
American Journal of Human Genetics, 2018
DNA mismatch repair and oligonucleotide end-protection promote base-pair substitution distal from a CRISPR/Cas9-induced DNA break.
Harmsen T et al.
Nucleic Acids Research, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic.
Silva FCC et al.
The American Journal of Surgical Pathology, 2017
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.
Ahn SM et al.
Oncotarget, 2016
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
Role of mismatch repair proteins in the processing of cisplatin interstrand cross-links.
Sawant A et al.
Dna Repair, 2015
The gynecological surveillance of women with Lynch syndrome in Sweden.
Tzortzatos G et al.
Gynecologic Oncology, 2015
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Andersen SD et al.
Human Mutation, 2012
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Drost M et al.
Human Mutation, 2010
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?
Wimmer K et al.
Human Genetics, 2008
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
Christensen LL et al.
Bmc Medical Genetics, 2008
Constitutive deficiency in DNA mismatch repair.
Felton KE et al.
Clinical Genetics, 2007
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
Lagerstedt Robinson K et al.
Journal of the National Cancer Institute, 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
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
Lipkin SM et al.
Nature Genetics, 2004
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer.
de Jong AE et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2004
Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
Ellison AR et al.
Nucleic Acids Research, 2004
An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.
Hutter P et al.
Journal of Medical Genetics, 2002
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
Ellison AR et al.
Human Molecular Genetics, 2001
Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma.
Borg A et al.
International Journal of Cancer, 2000
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
Guerrette S et al.
The Journal of Biological Chemistry, 1999