- ATM Gene Mutation Detection Techniques and Functional Analysis.
- Functional classification of ATM variants in Ataxia-Telangiectasia patients.
- Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
- Three new cases of Ataxia-Telangiectasia-Like Disorder: no impairment of the ATM pathway, but S-phase checkpoint defect.
