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
Droplet digital PCR-based analyses for robust, rapid, and sensitive molecular diagnostics of gliomas.
Wolter M et al.
Acta Neuropathologica Communications, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.
Zhang Y et al.
Nature Communications, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.
Lin JC et al.
Journal of Clinical Medicine, 2020
Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas.
Guerreiro Stucklin AS et al.
Nature Communications, 2019
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.
Carraro M et al.
Human Mutation, 2017
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.
Pejaver V et al.
Human Mutation, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.
Aoude LG et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2015
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Wadt KA et al.
Plos One, 2015
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Scaini MC et al.
Human Mutation, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
High frequency of ultraviolet mutations at the INK4a-ARF locus in squamous cell carcinomas from psoralen-plus-ultraviolet-A-treated psoriasis patients.
Kreimer-Erlacher H et al.
The Journal of Investigative Dermatology, 2003