Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 2017
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
Molecular analysis of Fanconi anemia and mismatch repair genes in patients with colorectal carcinoma.
Colombino M et al.
Oncology Reports, 2011
Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution.
Webb EA et al.
Human Genomics, 2011
Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.
Vogelsang M et al.
Bmc Cancer, 2009
Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma.
Rubio-Del-Campo A et al.
Bju International, 2008
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
Wang C et al.
Ophthalmic Genetics, 2008
Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.
Pistorius S et al.
Cancer Letters, 2007
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
Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma.
Colombino M et al.
European Journal of Cancer (oxford, England : 1990), 2005
Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
Colombino M et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2003