Genetics

Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

DUF1220 copy number is associated with schizophrenia risk and severity: Implications for understanding autism and schizophrenia as related diseases.

Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.

The influence of microdeletions and microduplications of 16p11.2 on global transcription profiles.

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.

Copy number variations and cognitive phenotypes in unselected populations.

Modeling a model: Mouse genetics, 22q11.2 deletion syndrome, and disorders of cortical circuit development.

7q11.23 duplication syndrome.

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.