Associated Papers
Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience.
Pinamonti M et al.
Journal of Clinical Medicine, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 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
Prevalence and outcomes of cancer and treatment-associated toxicities for patients with ataxia telangiectasia.
Magnarelli A et al.
The Journal of Allergy and Clinical Immunology, 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
Combined Tumor-Based BRCA1/2 and TP53 Mutation Testing in Ovarian Cancer.
Borcoman E et al.
International Journal of Molecular Sciences, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Somatic and Germline Variants Affect Prognosis and Susceptibility in Prostate Cancer.
Rocca C et al.
Anticancer Research, 2023
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.
Vanni I et al.
International Journal of Molecular Sciences, 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
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
Clinically relevant glioblastoma patient-derived xenograft models to guide drug development and identify molecular signatures.
Alcaniz J et al.
Frontiers in Oncology, 2023
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Mangolini A et al.
Cell Biology International, 2022
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Vela V et al.
Virchows Archiv : an International Journal of Pathology, 2022
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald JT et al.
Plos One, 2022
Molecular basis of human ATM kinase inhibition.
Stakyte K et al.
Nature Structural & Molecular Biology, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.
Moslemi M et al.
Bmc Cancer, 2021
Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.
Gemović B et al.
Plos One, 2021
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 2021
Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.
Fanale D et al.
Cancers, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S et al.
Bmc Medical Genomics, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Leong TL et al.
Oncogene, 2019
Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.
Dehghani M et al.
Frontiers in Molecular Biosciences, 2019
Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
West AH et al.
Familial Cancer, 2018
ATM in breast and brain tumors: a comprehensive review.
Estiar MA et al.
Cancer Biology & Medicine, 2018
Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.
Rohan TE et al.
British Journal of Cancer, 2018
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
Decker B et al.
Journal of Medical Genetics, 2017
[A bioinformatic pipeline for NGS data analysis and mutation calling in human solid tumors].
Tsukanov KY et al.
Biomeditsinskaia Khimiia, 2017
TIAM1 variants improve clinical outcome in neuroblastoma.
Sanmartín E et al.
Oncotarget, 2017
ATM Mutations in Cancer: Therapeutic Implications.
Choi M et al.
Molecular Cancer Therapeutics, 2016