Associated Papers
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.
Gervas P et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2022
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
Wokołorczyk D et al.
International Journal of Cancer, 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
Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.
Dymerska D et al.
The Journal of Molecular Diagnostics : Jmd, 2010
DNA damage and repair: from molecular mechanisms to health implications.
Altieri F et al.
Antioxidants & Redox Signaling, 2008
Some aspects of molecular diagnostics in Lynch syndrome.
Kurzawski G
Hereditary Cancer in Clinical Practice, 2006
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G et al.
Clinical Genetics, 2006
Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history.
Kámory E et al.
Pathology Oncology Research : Por, 2006
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
Kurzawski G et al.
Journal of Medical Genetics, 2002
Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.
Kurzawski G et al.
Journal of Biochemical and Biophysical Methods, 2002