- Development of global rating instruments for pediatric patients with ataxia telangiectasia.
- Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
- Neurovisual Assessment in Children with Ataxia Telangiectasia.
- Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.