Associated Papers
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2025
39870877 (PubMed )
Supplement: 41431_2025_1792_MOESM1_ESM.pdf
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
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
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
Sandoval N et al.
Human Molecular Genetics, 1999
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