Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.
Szabo E et al.
Human Mutation, 2025
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.
Vostrukhina OA et al.
Human Genome Variation, 2022
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Ng CC et al.
Frontiers in Molecular Biosciences, 2022
Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.
Frederiksen JH et al.
International Journal of Molecular Sciences, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Partanen T et al.
Journal of Clinical Immunology, 2020
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.
Olkinuora A et al.
Cancers, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Detailed Molecular and Immune Marker Profiling of Archival Prostate Cancer Samples Reveals an Inverse Association between TMPRSS2:ERG Fusion Status and Immune Cell Infiltration.
Rao SR et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.
Xavier A et al.
Molecular Genetics & Genomic Medicine, 2019
Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.
Liu Q et al.
Journal of Cancer, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM et al.
International Journal of Cancer, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.
Liccardo R et al.
International Journal of Molecular Sciences, 2017
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Houlleberghs H et al.
Plos Genetics, 2017
The neXtProt knowledgebase on human proteins: 2017 update.
Gaudet P et al.
Nucleic Acids Research, 2017
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.
Ollier M et al.
American Journal of Cancer Research, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Structure and function of the nucleosome-binding PWWP domain.
Qin S et al.
Trends in Biochemical Sciences, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis.
Woo HI et al.
Gene, 2014
Decoding the histone code: Role of H3K36me3 in mismatch repair and implications for cancer susceptibility and therapy.
Li GM
Cancer Research, 2013
Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.
Pérez-Cabornero L et al.
The Journal of Molecular Diagnostics : Jmd, 2013
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
Terui H et al.
Journal of Biomedical Science, 2013
Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.
Belvederesi L et al.
Familial Cancer, 2012
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
Prioritisation of associations between protein domains and complex diseases using domain-domain interaction networks.
Wang W et al.
Iet Systems Biology, 2010
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
Martinez SL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
Perez-Cabornero L et al.
European Journal of Cancer (oxford, England : 1990), 2009
Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.
Cyr JL et al.
The Journal of Biological Chemistry, 2008