- Ataxia-telangiectasia: Immunodeficiency and survival.
- Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
- Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
- Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.