PTEN mutations in autism spectrum disorder and congenital hydrocephalus: Developmental pleiotropy and therapeutic targets.
Molecular Mechanisms
Regulation of prefrontal patterning and connectivity by retinoic acid.

Regulation of cortical interneuron wiring in neurodevelopmental disorders
Deficits in feedforward inhibition mediated by parvalbumin-expressing (PV+) cortical interneurons are common among animal models of autism. In the current project, Oscar Marín and Beatriz Rico plan to investigate molecular mechanisms regulating the formation of excitatory synapses onto PV+ interneurons. Specifically, they will focus their studies on the ErbB4-Tsc2-mTOR signaling pathway. Findings from these studies will provide insights into the development of an important pool of synaptic connections of relevance for autism.
Human microglia states are conserved across experimental models and regulate neural stem cell responses in chimeric organoids.
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.
Charging up the periphery: Glial ionic regulation in sensory perception.
Expression of genes in the 16p11.2 locus during development of the human fetal cerebral cortex.
ASXL3 controls cortical neuron fate specification through extrinsic self-renewal pathways.
Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
Developmental and temporal characteristics of clonal sperm mosaicism.
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