Associated Papers
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › Replicate_correlation
Pan-tumor validation of a NGS fraction-based MSI analysis as a predictor of response to Pembrolizumab.
Lin DI et al.
Npj Precision Oncology, 2024
39277692 (PubMed )
Supplement: 41698_2024_679_MOESM1_ESM.pdf
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
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
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
Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome.
Barrow E et al.
Histopathology, 2010
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
Lucci-Cordisco E et al.
Cancer Biomarkers : Section a of Disease Markers, 2006
Re: Characterization of hereditary nonpolyposis colorectal cancer families from a population-based series of cases.
Evans DG et al.
Journal of the National Cancer Institute, 2001
A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer.
Maillet P et al.
International Journal of Cancer, 2000
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