Associated Papers
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 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
Identification of a Catalytic Lysine Residue Conserved Among GHKL ATPases: MutL, GyrB, and MORC.
Fukui K et al.
Journal of Molecular Biology, 2024
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
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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
Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.
Lang H et al.
Frontiers in Oncology, 2022
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Combinatorial approach of in silico and in vitro evaluation of MLH1 variant associated with Lynch syndrome like metastatic colorectal cancer.
Saleem K et al.
Bioscience Reports, 2020
Validation of an in Vitro Mismatch Repair Assay Used in the Functional Characterization of Mismatch Repair Variants.
González-Acosta M et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy.
Di Cosimo S et al.
Cancers, 2019
Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition.
Bonjoch L et al.
Molecular Aspects of Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 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
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
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2015
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
Hinrichsen I et al.
Carcinogenesis, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Simplified identification of Lynch syndrome: a prospective, multicenter study.
Bonnet D et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2012
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