Associated Papers
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.
Mitiushkina NV et al.
Diagnostics (basel, Switzerland), 2023
Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce.
Coad B et al.
Bmc Medical Education, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.
de Paula AE et al.
Cancer Genetics, 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A et al.
Journal of Medical Genetics, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 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
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
Wardell CP et al.
Journal of Hepatology, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).
Ishida H et al.
Journal of the Anus, Rectum and Colon, 2018
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
van der Klift HM et al.
Human Mutation, 2016
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
van der Klift HM et al.
Molecular Genetics & Genomic Medicine, 2015
Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.
Pineda M et al.
Clinical Genetics, 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
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
Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis.
Pigatto F et al.
Hereditary Cancer in Clinical Practice, 2004
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
Krüger S et al.
Human Mutation, 2004
RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
Sharp A et al.
Human Mutation, 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