The field of psychiatry is hampered by a lack of robust, reliable and valid biomarkers that can
aid in objectively diagnosing patients and providing individualized treatment …

Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …

Autism severity is currently defined and measured based exclusively on the severity levels of
the two core symptom domains: social‐communication and restricted or repetitive patterns of …

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder
(DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we …

Gasdermin D (GSDMD) is the common effector for cytokine secretion and pyroptosis
downstream of inflammasome activation and was previously shown to form large …

Dysregulation of alternative splicing has been repeatedly associated with
neurodevelopmental disorders, but the extent of cell-type-specific splicing in human neural …

This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

Fragile X messenger ribonucleoprotein 1 protein (FMRP) deficiency leads to fragile X
syndrome (FXS), an autism spectrum disorder. The role of FMRP in prenatal human brain …