Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.
Hurník P et al.
Frontiers in Oncology, 2023
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
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome.
Serrano M et al.
Familial Cancer, 2012
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability.
Albuquerque C et al.
Genes, Chromosomes & Cancer, 2010
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
Smith PJ et al.
Human Molecular Genetics, 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
Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
Fidalgo P et al.
European Journal of Human Genetics : Ejhg, 2000