Associated Papers
PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects.
Tekpinar M et al.
Genome Biology, 2025
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Frederiksen JH et al.
Molecular Genetics & Genomic Medicine, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.
Roht L et al.
Cancers, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.
Roht L et al.
Frontiers in Genetics, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.
Bhai P et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2020
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Xiong HY et al.
Science (new York, N.y.), 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
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
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.
Rasmussen LJ et al.
Human Mutation, 2012
Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families.
Brieger A et al.
Familial Cancer, 2011
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Drost M et al.
Human Mutation, 2010
Molecular analysis of endometrial tumorigenesis: importance of complex hyperplasia regardless of atypia.
Nieminen TT et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009
Nuclear translocation contributes to regulation of DNA excision repair activities.
Knudsen NØ et al.
Dna Repair, 2009
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
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
Lastella P et al.
Bmc Genomics, 2006
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 2006
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.
Belvederesi L et al.
European Journal of Human Genetics : Ejhg, 2006
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
BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors.
Lubomierski N et al.
Cancer, 2005
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE et al.
Gastroenterology, 2005
hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair.
Vo AT et al.
Embo Reports, 2005
MSH6 missense mutations are often associated with no or low cancer susceptibility.
Kariola R et al.
British Journal of Cancer, 2004
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
Raevaara TE et al.
Genes, Chromosomes & Cancer, 2004
Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Cartegni L et al.
Nature Reviews. Genetics, 2002