Associated Papers
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 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
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.
Kiefer KC et al.
Esc Heart Failure, 2021
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Overbeek KA et al.
Journal of Medical Genetics, 2021
CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.
Lin JC et al.
Journal of Clinical Medicine, 2020
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 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
In silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma.
Rajasekaran R et al.
Biochimie, 2008
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
Goldstein AM et al.
Journal of Medical Genetics, 2007
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.
Goldstein AM et al.
Cancer Research, 2006
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
Familial melanoma, pancreatic cancer and germline CDKN2A mutations.
Goldstein AM
Human Mutation, 2004
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT et al.
Journal of the National Cancer Institute, 2002
Mutation screening of the CDKN2A promoter in melanoma families.
Harland M et al.
Genes, Chromosomes & Cancer, 2000
Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.
Ruas M et al.
Oncogene, 1999
Mutation testing in melanoma families: INK4A, CDK4 and INK4D.
Newton Bishop JA et al.
British Journal of Cancer, 1999
Germline mutations of the CDKN2 gene in UK melanoma families.
Harland M et al.
Human Molecular Genetics, 1997