Importance Autism spectrum disorder (ASD), characterized by deficits in social
communication and the presence of restricted, repetitive behaviors or interests, is a …

More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized
by difficulties in social interaction, language development delays, repeated body …

Despite evidence that deleterious variants in the same genes are implicated across multiple
neurodevelopmental and neuropsychiatric disorders, there has been considerable interest …

Genome-wide analyses of common and rare genetic variations have documented the
heritability of major psychiatric disorders, established their highly polygenic genetic …

Background Attention-deficit/hyperactive disorder (ADHD) is a neurodevelopmental disorder
that commonly occurs in children with a prevalence ranging from 3.4 to 7.2%. It profoundly …

The genetics of neurodevelopmental disorders (NDD) has made tremendous progress
during the last few decades with the identification of more than 1,500 genes associated with …

Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …