Associated Papers
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
Computational Analysis of Non-synonymous SNPs in ATM Kinase: Structural Insights, Functional Implications, and Inhibitor Discovery.
Panchal NK et al.
Molecular Biotechnology, 2025
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1
A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.
Khorrami M et al.
Iranian Journal of Child Neurology, 2019
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
Tabatabaiefar MA et al.
Journal of the Neurological Sciences, 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Multi-center screening of mutations in the ATM gene among women with breast cancer - the WECARE Study.
Berstein JL et al.
Radiation Research, 2005
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
Mitui M et al.
Human Mutation, 2003
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.
Bernstein JL et al.
Human Mutation, 2003
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