- A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.
- Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.
- Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
- Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
