Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.
Yu F et al.
Briefings in Bioinformatics, 2025
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 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
Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.
Cifuentes GA et al.
British Journal of Cancer, 2023
Evaluating Germline Testing Panels in Southern African Males With Advanced Prostate Cancer.
Gheybi K et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 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
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
Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Rosenthal SH et al.
Plos One, 2021
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
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
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
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.
Izquierdo E et al.
Oncotarget, 2017
Genomic Disparities in Breast Cancer Among Latinas.
Lynce F et al.
Cancer Control : Journal of the Moffitt Cancer Center, 2016
ATM gene mutations in sporadic breast cancer patients from Brazil.
Mangone FR et al.
Springerplus, 2015
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
Barone G et al.
Human Mutation, 2009
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
Austen B et al.
British Journal of Haematology, 2008
Possession of ATM sequence variants as predictor for late normal tissue responses in breast cancer patients treated with radiotherapy.
Ho AY et al.
International Journal of Radiation Oncology, Biology, Physics, 2007
Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.
Ye C et al.
Breast Cancer Research and Treatment, 2007
Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk.
Lee KM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005
Absence of somatic ATM missense mutations in 58 mammary carcinomas.
Feng J et al.
Cancer Genetics and Cytogenetics, 2003
The relationship between twenty missense ATM variants and breast cancer risk: the Multiethnic Cohort.
Bretsky P et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2003
ATM gene alterations in childhood acute lymphoblastic leukemias.
Gumy Pause F et al.
Human Mutation, 2003