Associated Papers
Structural analysis of the impact of germline mutations of p16 in melanoma prone families.
Arun D et al.
Molecular Diversity, 2025
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
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
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
Germline RUNX1 variation and predisposition to childhood acute lymphoblastic leukemia.
Li Y et al.
The Journal of Clinical Investigation, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Casula M et al.
Bmc Cancer, 2019
Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter.
Kukita Y et al.
Plos One, 2018
Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.
Harvey NT et al.
Pathology, 2016
Advances and Applications of Ion Torrent Personal Genome Machine in Cutaneous Squamous Cell Carcinoma Reveal Novel Gene Mutations.
Hsiao YP et al.
Materials (basel, Switzerland), 2016
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.
Kannengiesser C et al.
Human Mutation, 2009
CDKN2A germline mutations in individuals with cutaneous malignant melanoma.
Orlow I et al.
The Journal of Investigative Dermatology, 2007
The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study.
Berwick M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006
p16(INK4alpha)/exon 2 mutations in squamous cell carcinoma of the head and neck region.
Lehnerdt G et al.
Acta Oto-laryngologica, 2006
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
Begg CB et al.
Journal of the National Cancer Institute, 2005