Associated Papers
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Frequency of Deleterious Germline Variants in HER2-Low Breast Cancer Patients Using a Hereditary Multipanel Gene Testing.
Cassoli JPB et al.
Current Issues in Molecular Biology, 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
Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.
Li L et al.
Nature Communications, 2023
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 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
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
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
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
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
UniProt genomic mapping for deciphering functional effects of missense variants.
McGarvey PB et al.
Human Mutation, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
Frey MK et al.
Gynecologic Oncology, 2017
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes.
Kerr ID et al.
Journal of Community Genetics, 2017
A promoter polymorphism in the hMLH1 gene (-93G/A) associated with sporadic colorectal cancer.
Zhang LL et al.
Oncology Letters, 2016
Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening.
Frey MK et al.
Gynecologic Oncology, 2015
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ et al.
Human Mutation, 2015
RAD51 gene polymorphisms and sporadic colorectal cancer risk in Poland.
Romanowicz-Makowska H et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2012
A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia.
Hiljadnikova-Bajro M et al.
Croatian Medical Journal, 2012
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Application of molecular diagnostics for the detection of Lynch syndrome.
Pino MS et al.
Expert Review of Molecular Diagnostics, 2010
Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer.
Boland CR et al.
Gastroenterology, 2010
Microsatellite instability in colorectal cancer.
Boland CR et al.
Gastroenterology, 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 MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer.
Nejda N et al.
Cancer Genetics and Cytogenetics, 2009
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
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
Christensen LL et al.
Bmc Medical Genetics, 2008
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson RA et al.
Human Mutation, 2008
The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch syndrome: from bench to bedside.
Boland CR et al.
Familial Cancer, 2008
Sporadic desmoid tumor in an Ashkenazi patient homozygous for the APC*I1307K gene mutation.
Zauber P et al.
Acta Oncologica (stockholm, Sweden), 2008
Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.
Schafmayer C et al.
International Journal of Cancer, 2007
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
MLH1 -93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer.
Raptis S et al.
Journal of the National Cancer Institute, 2007
Common variants in mismatch repair genes and risk of invasive ovarian cancer.
Song H et al.
Carcinogenesis, 2006
Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients.
Mei Q et al.
Cancer Genetics and Cytogenetics, 2006
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
Hampel H et al.
Cancer Research, 2006
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
Barnetson RA et al.
The New England Journal of Medicine, 2006
A novel MLH1 mutation harbored as a germ line aberration by a young woman of an HNPCC-like family and exhibited by a CML patient when occurring prior to the initiation of the blast phase concomitant with a c-MYC amplification.
Amikam D et al.
International Journal of Molecular Medicine, 2006