Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye

Kayhan et al. (2026) identified pathogenic variants in 24% of 75 Turkish children presenting with ASD through Genomize-SEQ whole-exome analysis. This revealed underlying genetic diagnoses including Rett, Dravet, and Angelman syndrome in patients who had previously tested negative on standard screens.