Molecular Mechanisms

The pathogenic p.N1662D SCN2A mutation reveals an essential molecular interaction for Nav1.2 channel inactivation.

Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction.

Disruption of cell-type-specific molecular programs of medium spiny neurons in autism.

Cholinergic modulation of dopamine release drives effortful behavior.

Single-cell proteomic landscape of the developing human brain.

Identification of protein interaction interfaces disrupted in autism through structural analysis of exome-sequencing data

Integrating deep learning with splicing-QTL and splicing-TWAS to uncover hidden causal variants in autism spectrum disorders

Defining the cellular and anatomic identity and developmental trajectory of sex-differential subcortical cells and circuits in ASD

Neuronal and glial cell number is altered in a cortical layer-specific manner in autism.

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: Potential links to mitochondrial dynamics and spinocerebellar ataxias.

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