- A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
- Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.
- Clinical variability in ataxia-telangiectasia.
- Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
- Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.
- Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.
