Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
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
Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.
Kypreou K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024
The correlation between clinical outcomes and genomic analysis with high risk factors for the progression of osteosarcoma.
Liu W et al.
Molecular Oncology, 2024
Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.
Roccuzzo G et al.
Cancers, 2023
NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.
Ramakrishnan G et al.
Cell Reports, 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
Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.
Ferdosi S et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2021
Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma.
Seligson ND et al.
Jama Network Open, 2019
CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.
Karagianni F et al.
Acta Dermato-venereologica, 2018
Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients.
Kaur RP et al.
Medical Oncology (northwood, London, England), 2018
Frequent Genetic Aberrations in the CDK4 Pathway in Acral Melanoma Indicate the Potential for CDK4/6 Inhibitors in Targeted Therapy.
Kong Y et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Puig S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
Bruno W et al.
Journal of the American Academy of Dermatology, 2016
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.
Zhen DB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.
Nikolaou V et al.
The British Journal of Dermatology, 2011
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants.
Greenblatt MS et al.
Oncogene, 2003