Associated Papers
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
38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
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
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A et al.
Human Mutation, 2022
Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.
Galbraith LN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.
Finkle JD et al.
Npj Precision Oncology, 2021
34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Dámaso E et al.
Cancers, 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
Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.
Vargas-Parra GM et al.
International Journal of Cancer, 2017
Comprehensive functional assessment of MLH1 variants of unknown significance.
Borràs E et al.
Human Mutation, 2012
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