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Supplement: mmc1.xlsx › Sheet1
Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.
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Ebiomedicine, 2025
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Supplement: mmc1.xlsx › Table_S6
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
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American Journal of Human Genetics, 2024
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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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
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Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
37563628 (PubMed )
Supplement: 12885_2023_11229_MOESM2_ESM.xlsx › Table_S1
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
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
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
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The Journal of Pathology, 2022
35716007 (PubMed )
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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
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Elife, 2016
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