Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
41727503 (PubMed )
Supplement: Table1.xlsx › Table_S4
Mismatch repair-deficient glioma with spatially distinct IDH-mutant and IDH-wild type components arising in the setting of Lynch syndrome.
Tan H et al.
Cold Spring Harbor Molecular Case Studies, 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
36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1
Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E et al.
The Journal of Pathology, 2022
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
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.
Birrell GW et al.
Human Mutation, 2005
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