Since the documented observations of Kanner in 1943, there has been great debate about
the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known …

Autism spectrum disorder is a construct used to describe individuals with a specific
combination of impairments in social communication and repetitive behaviours, highly …

The mechanisms underlying phenotypic heterogeneity in autism spectrum disorder (ASD)
are not well understood. Using a large neuroimaging dataset, we identified three latent …

INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …

To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …

Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …

Heredity has a major role in autism spectrum disorder (ASD), yet underlying causal genetic
variants have been defined only in a fairly small subset of cases. The enormous genetic …

Recent studies have established important roles of de novo mutations (DNMs) in autism
spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese …

CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome
associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase …

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with cognitive,
motor, and emotional symptoms. The thalamus and basal ganglia form circuits with the …