Associated Papers
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 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
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
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
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.
Berko ER et al.
Nature Communications, 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
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer.
Gong XY et al.
Frontiers in Immunology, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.
Lin JC et al.
Journal of Clinical Medicine, 2020
Defining relative mutational difficulty to understand cancer formation.
Shan L et al.
Cell Discovery, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.
Khater F et al.
Jama Network Open, 2019
Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.
Zhang W et al.
Cancer Medicine, 2019
Application of a multi-gene next-generation sequencing panel to a non-invasive oesophageal cell-sampling device to diagnose dysplastic Barrett's oesophagus.
Katz-Summercorn A et al.
The Journal of Pathology. Clinical 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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005
Point mutations can inactivate in vitro and in vivo activities of p16(INK4a)/CDKN2A in human glioma.
Arap W et al.
Oncogene, 1997
The CDKN2A (p16) gene and human cancer.
Foulkes WD et al.
Molecular Medicine (cambridge, Mass.), 1997