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
High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.
Pellegrini C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient with CHEK2 mutation.
Ipe A et al.
Frontiers in Pediatrics, 2023
Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.
Prieto-Potin I et al.
Diagnostics (basel, Switzerland), 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
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
Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants.
Spagnolo F et al.
Cancers, 2021
Somatic Mutation Profiling in Premalignant Lesions of Vulvar Squamous Cell Carcinoma.
Zięba S et al.
International Journal of Molecular Sciences, 2020
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations.
Helgadottir H et al.
Journal of Medical Genetics, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 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
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.
Yalçin O et al.
Epilepsia, 2011
CDKN2A germline mutations in individuals with cutaneous malignant melanoma.
Orlow I et al.
The Journal of Investigative Dermatology, 2007
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
Begg CB et al.
Journal of the National Cancer Institute, 2005