Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2
Analysis of genome instability and implications for the consequent phenotype in Plasmodium falciparum containing mutated MSH2-1 (P513T).
Honma H et al.
Microbial Genomics, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.
Singh S et al.
Biotechnology and Applied Biochemistry, 2022
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet
Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
Bouvet D et al.
Gastroenterology, 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
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Kayser K et al.
International Journal of Cancer, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.
Nielsen SV et al.
Plos Genetics, 2017
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.
Rosty C et al.
Familial Cancer, 2014
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.
Skeldon SC et al.
European Urology, 2013
Annotating the biomedical literature for the human variome.
Verspoor K et al.
Database : the Journal of Biological Databases and Curation, 2013
Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
Chialina SG et al.
Bmc Medical Genetics, 2006
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