Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
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
Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.
Hanenberg H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 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 after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.
Putti S et al.
Cancers, 2021
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone.
Biagiotti S et al.
Frontiers in Genetics, 2021
Cryo-EM Structure of Nucleotide-Bound Tel1ATM Unravels the Molecular Basis of Inhibition and Structural Rationale for Disease-Associated Mutations.
Yates LA et al.
Structure (london, England : 1993), 2020
Structural basis of allosteric regulation of Tel1/ATM kinase.
Xin J et al.
Cell Research, 2019
Rare germline variants in known melanoma susceptibility genes in familial melanoma.
Goldstein AM et al.
Human Molecular Genetics, 2017
Structures of closed and open conformations of dimeric human ATM.
Baretić D et al.
Science Advances, 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.
Huh HJ et al.
Annals of Laboratory Medicine, 2013
The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer.
Stredrick DL et al.
Human Mutation, 2006
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N et al.
Human Molecular Genetics, 1999
Functional consequences of sequence alterations in the ATM gene.
Lavin MF et al.
Dna Repair, 0