Genetics

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.

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Environmental adversity moderates polygenic score effects on childhood behavioral problems in the United States.

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