Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Dr. Kinase: predicting the drug-resistance hotspots of protein kinases.
Lin S et al.
Nucleic Acids Research, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
Saunders EJ et al.
European Urology Oncology, 2024
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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
PRMT1-dependent regulation of RNA metabolism and DNA damage response sustains pancreatic ductal adenocarcinoma.
Giuliani V et al.
Nature Communications, 2021
Somatic Mutations in Circulating Cell-Free DNA and Risk for Hepatocellular Carcinoma in Hispanics.
Jiao J et al.
International Journal of Molecular Sciences, 2021
Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.
Priedigkeit N et al.
Breast Cancer Research : Bcr, 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
Maintenance of pegylated liposomal doxorubicin/carboplatin in patients with advanced ovarian cancer: randomized study of an Asian Gynecologic Oncology Group.
Lai CH et al.
Journal of Gynecologic Oncology, 2020
Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
Bishop MR et al.
Plos One, 2020
Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.
Ramassone A et al.
Journal of Hematology & Oncology, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.
Bishop MR et al.
Plos One, 2019
Clinical Activity of Olaparib in Urothelial Bladder Cancer With DNA Damage Response Gene Mutations.
Sweis RF et al.
Jco Precision Oncology, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
ATM in breast and brain tumors: a comprehensive review.
Estiar MA et al.
Cancer Biology & Medicine, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 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
Rare germline variants in ATM are associated with chronic lymphocytic leukemia.
Tiao G et al.
Leukemia, 2017
Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing.
Lee PJ et al.
Experimental and Molecular Pathology, 2017
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
Multigene testing of moderate-risk genes: be mindful of the missense.
Young EL et al.
Journal of Medical Genetics, 2016
Screening for ATM sequence alterations in African-American women diagnosed with breast cancer.
Hirsch AE et al.
Breast Cancer Research and Treatment, 2008
Identifying functional genetic variants in DNA repair pathway using protein conservation analysis.
Savas S et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004
Absence of somatic ATM missense mutations in 58 mammary carcinomas.
Feng J et al.
Cancer Genetics and Cytogenetics, 2003
Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers.
Offit K et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2002