Associated Papers
Mapping in silico genetic networks of the KMT2D tumour suppressor gene to uncover novel functional associations and cancer cell vulnerabilities.
Takemon Y et al.
Genome Medicine, 2024
39578878 (PubMed )
Supplement: 13073_2024_1401_MOESM2_ESM.xlsx › D_-_WRN_inhibitor_-_DepMap_muts
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
Null Mismatch Repair Proteins Expression Reveals the Temporal Molecular Events in Lynch Syndrome-Related Cancers.
Miolo G et al.
Diagnostics (basel, Switzerland), 2024
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
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
Bujalkova M et al.
Clinical Chemistry, 2008
Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients.
Alemayehu A et al.
Genes, Chromosomes & Cancer, 2008
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.
Bartosova Z et al.
Human Mutation, 2003
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