Associated Papers
Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants.
Llinares-Burguet I et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 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
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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E et al.
The Journal of Pathology, 2022
Germline pathogenic variants in unselected Korean men with prostate cancer.
So MK et al.
Investigative and Clinical Urology, 2022
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
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
Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A et al.
Human Mutation, 2019
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.
Cadoo KA et al.
Jco Precision Oncology, 2019
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM et al.
Human Mutation, 2012
Clinical spectrum of ataxia-telangiectasia in adulthood.
Verhagen MM et al.
Neurology, 2009
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.
Dörk T et al.
American Journal of Medical Genetics. Part A, 2004