- Childhood colon cancer in a patient with ataxia telangiectasia.
- Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report
- Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.
- Nanopore Long-Read Sequencing Facilitates Diagnosis of Atypical Ataxia-Telangiectasia
