Associated Papers
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Jenni R et al.
Journal of Translational Medicine, 2026
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
Viart NM et al.
Breast Cancer Research : Bcr, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia-Telangiectasia Mutated Variant Carriers.
Bensenane R et al.
Cancers, 2024
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.
Ammous-Boukhris N et al.
Frontiers in Neurology, 2024
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C et al.
Journal of Medical Genetics, 2023
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel.
Glodzik D et al.
The Journal of Molecular Diagnostics : Jmd, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
Barmettler S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications.
El Jabbour T et al.
Journal of the National Cancer Institute, 2022
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.
Cirillo E et al.
Journal of Clinical Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault AL et al.
Breast Cancer Research : Bcr, 2018
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
Graña B et al.
Breast Cancer Research and Treatment, 2011
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Chessa L et al.
Annals of Human Genetics, 2009
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Magliozzi M et al.
Disease Markers, 2006
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
Delia D et al.
British Journal of Cancer, 2000
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN et al.
American Journal of Human Genetics, 1999