Associated Papers
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 2025
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
Astiazaran-Symonds E et al.
Cancers, 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
Harland M et al.
Hereditary Cancer in Clinical Practice, 2014
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.
Cust AE et al.
Journal of Medical Genetics, 2011
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F et al.
Journal of the National Cancer Institute, 2010
MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.
Niendorf KB et al.
Journal of Medical Genetics, 2006
Intronic sequence variants of the CDKN2A gene in melanoma pedigrees.
Harland M et al.
Genes, Chromosomes & Cancer, 2005
An NF-kappaB-specific inhibitor, IkappaBalpha, binds to and inhibits cyclin-dependent kinase 4.
Li J et al.
Biochemistry, 2003
Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations.
Orlow I et al.
The Journal of Molecular Diagnostics : Jmd, 2001
Tumor suppressor INK4: quantitative structure-function analyses of p18INK4C as an inhibitor of cyclin-dependent kinase 4.
Li J et al.
Biochemistry, 2000