Associated Papers
Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?
Schubart C et al.
International Journal of Cancer, 2025
Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients.
Pócza T et al.
International Journal of Molecular Sciences, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Identification of ATM-dependent long non-coding RNAs induced in response to DNA damage.
Podralska M et al.
Dna Repair, 2024
Identification and characterization of ATM founder mutation in BRCA-negative breast cancer patients of Arab ethnicity.
Bu R et al.
Scientific Reports, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
Genetics of ataxia telangiectasia in a highly consanguineous population.
Al-Muhaizea MA et al.
Annals of Human Genetics, 2022
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.
Shalash AS et al.
Neurogenetics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
EBV-directed viral-specific T-lymphocyte therapy for the treatment of EBV-driven lymphoma in two patients with primary immunodeficiency and DNA repair defects.
Rubinstein JD et al.
Pediatric Blood & Cancer, 2020
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.
Cirillo E et al.
European Journal of Neurology, 2018
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
Podralska MJ et al.
Molecular Genetics & Genomic Medicine, 2014
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.
Quarantelli M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.
Broccoletti T et al.
European Journal of Neurology, 2011
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
Mitui M et al.
Annals of Human Genetics, 2005
ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.
Babaei M et al.
Human Genetics, 2005
Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.
Cavaciuti E et al.
Genes, Chromosomes & Cancer, 2005
Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.
Fernet M et al.
British Journal of Cancer, 2004
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
Castellví-Bel S et al.
Human Mutation, 1999