- Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
- Functional classification of ATM variants in Ataxia-Telangiectasia patients.
- Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.
- Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
- Three new cases of Ataxia-Telangiectasia-Like Disorder: no impairment of the ATM pathway, but S-phase checkpoint defect.
