- A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
- Ataxia telangiectasia: more variation at clinical and cellular levels.
- Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia.
- Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
- Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
