Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

ConclusionBased on the diagnostic rate observed in this cohort, we suggest that a stepwise procedure be considered, first screening pathogenic CNVs and a limited number of disease genes in a much larger number of patients, especially those with syndromic ASD and intellectual disability.
Source: Molecular Autism - Category: Molecular Biology Source Type: research