Researchers used exome sequencing to investigate the genetic causes of autism spectrum disorder (ASD) in 20 patients who had previously tested negative on chromosome microarray analysis. Pathogenic variants were found in 10 patients across genes including POGZ, ADNP, SHANK3, and others. Patients with a positive genetic finding were more likely to show features such as dysmorphic characteristics, hypotonia, psychomotor delay, and strabismus. The findings support exome sequencing as a valuable next step for diagnosing ASD when standard genetic screening is inconclusive.