Associated Papers
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Jenni R et al.
Journal of Translational Medicine, 2026
Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile.
Viart NM et al.
Breast Cancer Research : Bcr, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 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
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_
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
36944408 (PubMed )
Supplement: mmc15.xlsx › ATM_Analysis
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
Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.
Amirifar P et al.
Journal of Clinical Immunology, 2022
34628594 (PubMed )
Supplement: 10875_2021_1147_MOESM1_ESM.docx
The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.
Amirifar P et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021
Clinical complications and their management in a child with ataxia-telangiectasia (A-T): A case report study.
Heidarzadeh Arani M et al.
Clinical Case Reports, 2021
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.
Lu HM et al.
Jama Oncology, 2019
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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