Associated Papers
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet
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
Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.
Pérez-Cabornero L et al.
The Journal of Molecular Diagnostics : Jmd, 2013
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.
Perez-Cabornero L et al.
European Journal of Cancer (oxford, England : 1990), 2009
Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.
Velasco E et al.
Electrophoresis, 2005
Cancer risk in 348 French MSH2 or MLH1 gene carriers.
Parc Y et al.
Journal of Medical Genetics, 2003
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