The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Chromosomal microarray analysis (CMA) is performed either by array comparative genomic
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …

Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the
general population, but the effects of this risk are unclear in people not ascertained for …

Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain
development is a critical epoch for neuropsychiatric disease susceptibility, we characterized …

Next-generation sequencing has identified mutations in the PRRT2 (proline-rich
transmembrane protein 2) gene as the leading cause for a wide and yet evolving spectrum …

Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …

Importance The 16p11. 2 BP4-BP5 duplication is the copy number variant most frequently
associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as …

Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions
diagnosed solely on the basis of behavioral assessments that reveal social deficits …

Importance Autism spectrum disorder (ASD) is a highly prevalent disorder, and community
psychiatrists are likely to treat many individuals with ASD during their clinical practice. This …

This article provides a selective review of advances in scientific knowledge about autism
spectrum disorder (ASD), using DSM-5 (Diagnostic and Statistical Manual of Mental …