Associated Papers
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 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
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
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.
Chang YK et al.
International Journal of Molecular Sciences, 2022
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
Chemotherapy modulates CDK4/6 inhibitors resistance in metastatic breast cancer by Rb1 mutations: a case report and literature review.
Gao L et al.
Annals of Translational Medicine, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
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
Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.
Dallol A et al.
Journal of Translational Medicine, 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
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
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
Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
Begg CB et al.
Journal of the National Cancer Institute, 2005