Associated Papers
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
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
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
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.
Borja NA et al.
Frontiers in Oncology, 2023
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
An Analysis of Patients with DNA Repair Pathway Mutations Treated with a PARP Inhibitor.
Borazanci E et al.
The Oncologist, 2020
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E et al.
Scientific Reports, 2019
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
Dominguez-Valentin M et al.
Scientific Reports, 2019
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Oliver GR et al.
Plos One, 2019
Prospective study of germline genetic testing in incident cases of pancreatic adenocarcinoma.
Brand R et al.
Cancer, 2018
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
Cousin MA et al.
Journal of Clinical Immunology, 2018
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.
Chaffee KG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.
Hart SN et al.
Bmj Open, 2016
Alpha fetoprotein is increasing with age in ataxia-telangiectasia.
Stray-Pedersen A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2007
Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.
Riise R et al.
Acta Ophthalmologica Scandinavica, 2007
Intact T cell responses in ataxia telangiectasia.
Pashankar F et al.
Clinical Immunology (orlando, Fla.), 2006
Breast and other cancers in 1445 blood relatives of 75 Nordic patients with ataxia telangiectasia.
Olsen JH et al.
British Journal of Cancer, 2005
The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents.
Stray-Pedersen A et al.
Clinical and Experimental Immunology, 2004