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
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 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
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
Assessment of genome mutation analysis for tumor-informed detection of circulating tumor DNA in patients with breast cancer.
Wahab MRA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Frequency of germline genetic variants in women with a personal or family history of breast cancer from Brazil.
Pereira JZ et al.
Molecular Biology Reports, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 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
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
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.
Sánchez R et al.
Blood Cancer Journal, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.
Bishop MR et al.
Plos One, 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
Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.
Vikova V et al.
Theranostics, 2019
Ultra-Sensitive Mutation Detection and Genome-Wide DNA Copy Number Reconstruction by Error-Corrected Circulating Tumor DNA Sequencing.
Mansukhani S et al.
Clinical Chemistry, 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
Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.
Dalin MG et al.
Nature Communications, 2017
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
ATM function and its relationship with ATM gene mutations in chronic lymphocytic leukemia with the recurrent deletion (11q22.3-23.2).
Jiang Y et al.
Blood Cancer Journal, 2016
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Blepharospasm in a multiplex African-American pedigree.
Xiao J et al.
Journal of the Neurological Sciences, 2016
ATM gene mutations in sporadic breast cancer patients from Brazil.
Mangone FR et al.
Springerplus, 2015
Role of DNA damage response pathways in preventing carcinogenesis caused by intrinsic replication stress.
Wallace MD et al.
Oncogene, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
Prevalence of ATM Sequence Variants in Northern Plains American Indian Cancer Patients.
Petereit DG et al.
Frontiers in Oncology, 2013
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
Jacquemin V et al.
European Journal of Human Genetics : Ejhg, 2012
Genetic variants of NPAT-ATM and AURKA are associated with an early adverse reaction in the gastrointestinal tract of patients with cervical cancer treated with pelvic radiation therapy.
Ishikawa A et al.
International Journal of Radiation Oncology, Biology, Physics, 2011
Elevated lung cancer risk is associated with deficiencies in cell cycle checkpoints: genotype and phenotype analyses from a case-control study.
Zheng YL et al.
International Journal of Cancer, 2010
ATM gene variants in patients with idiopathic perifoveal telangiectasia.
Barbazetto IA et al.
Investigative Ophthalmology & Visual Science, 2008
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
Concannon P et al.
Cancer Research, 2008
Association of common ATM variants with familial breast cancer in a South American population.
González-Hormazábal P et al.
Bmc Cancer, 2008
Screening for ATM sequence alterations in African-American women diagnosed with breast cancer.
Hirsch AE et al.
Breast Cancer Research and Treatment, 2008
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
Broeks A et al.
Breast Cancer Research and Treatment, 2008
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Magliozzi M et al.
Disease Markers, 2006
Conservation of the RB1 gene in human and primates.
Sivakumaran TA et al.
Human Mutation, 2005