Genetics

High-resolution proteome mapping in the developing human cerebral cortex to uncover mutationally convergent pathways in autism

Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.

Epilepsy-associated SCN2A (NAV1.2) variants exhibit diverse and complex functional properties.

The contributions of rare inherited and polygenic risk to ASD in multiplex families.

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Rhesus macaque social functioning is paternally, but not maternally, inherited by sons: Potential implications for autism.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants.

Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study

Sharing parental genomes by siblings concordant or discordant for autism.

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