SFARI | Topic: Genetics

Functionally characterizing genetic variants in the activation domains of autism-associated transcription factors

Many individuals with autism carry novel mutations in transcription factors, which are critical regulatory proteins. In the current project, Max Staller plans to investigate the functional consequences of mutations in activation domains, the regions of transcription factors that activate target genes.

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Relationship between sex biases in gene expression and sex biases in autism and Alzheimer’s disease.

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.