Next-generation sequencing

• A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
• Diagnostic Value of Next Generation Sequencing Ataxia Panel as a Part of Multistep Investigation Approach in Sporadic and Autosomal Recessive Cerebellar Ataxias in Russia (P1.8-013)
• Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
• Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
• Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.