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
40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
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 › MLH1
Management of patients with presumed germline pathogenic variant from tumor-only genomic sequencing: A retrospective analysis at a single facility.
Kawamura M et al.
Journal of Human Genetics, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
37021934 (PubMed )
Supplement: btad179_supplementary_data.zip › SAI10kcalc_supp_tables_final.xlsx › S1.variants
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.
Moreno E et al.
Diagnostic Pathology, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1
A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.
Zhang Y et al.
Biomed Research International, 2018
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
Sjursen W et al.
Molecular Genetics & Genomic Medicine, 2016
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.
Yap HL et al.
Familial Cancer, 2009
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
Auclair J et al.
Human Mutation, 2006
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E et al.
International Journal of Cancer, 2005
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