Associated Papers
Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.
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International Journal of Neonatal Screening, 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
39317201 (PubMed )
Supplement: mmc4.xlsx › Table_S4
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME et al.
Medrxiv : the Preprint Server for Health Sciences, 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_
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST7-ATM
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.
Emelyanova M et al.
Therapeutic Advances in Medical Oncology, 2022
35309086 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359221083050.xlsx › Supplement_table_1
Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
Fountzilas E et al.
Cancers, 2021
33429865 (PubMed )
Supplement: cancers-13-00198-s001.pdf
ATM-Mutated Pancreatic Cancer: Clinical and Molecular Response to Gemcitabine/Nab-Paclitaxel After Genome-Based Therapy Resistance.
Martino C et al.
Pancreas, 2020
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault AL et al.
Breast Cancer Research : Bcr, 2018
Molecular defects in Moroccan patients with ataxia-telangiectasia.
Jeddane L et al.
Neuromolecular Medicine, 2013
Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.
Agiannitopoulos K et al.
Cancer Genomics & Proteomics, 0
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