Associated Papers
Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma.
Sunil P et al.
Frontiers in Genetics, 2026
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
PARP inhibitor BMN673 triggers PARylation-mediated ATF4-GDF15 pathway to drive autophagy and ferroptosis in ataxia telangiectasia mutated gene-deficient colorectal cancer cells.
Xiang J et al.
Molecular Biomedicine, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Activity of Brigatinib in Patients With Crizotinib-Resistant ALK-positive Non-Small-Cell Lung Cancer According to ALK Fusion and Mutation Status.
Bazhenova L et al.
Clinical Lung Cancer, 2025
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
Disruption of ataxia telangiectasia-mutated kinase enhances radiation therapy efficacy in spatially directed diffuse midline glioma models.
Mangoli A et al.
The Journal of Clinical Investigation, 2025
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.
Hanenberg H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Precision proteogenomics reveals pan-cancer impact of germline variants.
Martins Rodrigues F et al.
Cell, 2025
SNP's use as a potential chemotoxicity stratification tool in breast cancer: from bench to clinic.
Moustafa HAM et al.
Functional & Integrative Genomics, 2025
Profiling genetic mutations in the DNA damage repair genes of oral squamous cell carcinoma patients from Pakistan.
Naeem W et al.
Scientific Reports, 2025
Genomic instability in ovarian cancer: Through the lens of single nucleotide polymorphisms.
Canchi Sistla H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.
de Amorim IFG et al.
Plos One, 2025
From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia
Fernandes Pineda M et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
American Journal of Human Genetics, 2024
Severe Radiation-Induced Brachial Plexopathy: A Case Report on Radiation Toxicity in a Patient With Invasive Ductal Carcinoma.
Waeldner K et al.
Cureus, 2024
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer.
Turnham DJ et al.
Cells, 2024
Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia-Telangiectasia Mutated Variant Carriers.
Bensenane R et al.
Cancers, 2024
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
Clinico-genomic findings, molecular docking, and mutational spectrum in an understudied population with breast cancer patients from KP, Pakistan.
Ahmad H et al.
Frontiers in Genetics, 2024
Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.
Behrens D et al.
Cancers, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
DNA Double-Strand Break Response and Repair Gene Polymorphisms May Influence Therapy Results and Prognosis in Head and Neck Cancer Patients.
Butkiewicz D et al.
Cancers, 2023
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
The Tumor Suppressor BRCA1/2, Cancer Susceptibility and Genome Instability in Gynecological and Mammary Cancers.
Oubaddou Y et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2023
Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.
Aktas T et al.
Frontiers in Bioscience (landmark Edition), 2023
Mutational landscape of cancer-driver genes across human cancers.
Sinkala M
Scientific Reports, 2023
Somatic and Germline Variants Affect Prognosis and Susceptibility in Prostate Cancer.
Rocca C et al.
Anticancer Research, 2023
Stereotactic Radiosurgery for Brain Metastases in Patients With a Heterozygous Germline Ataxia Telangiectasia Mutated Gene.
Hall JC et al.
Cureus, 2023
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson BL et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Pharmacogenetics of Drug Metabolism: The Role of Gene Polymorphism in the Regulation of Doxorubicin Safety and Efficacy.
Bagdasaryan AA et al.
Cancers, 2022
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Safa F et al.
Ejhaem, 2022
Cancer Effects of Low to Moderate Doses of Ionizing Radiation in Young People with Cancer-Predisposing Conditions: A Systematic Review.
Canet M et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2022