Marc Dos Santos

This study investigates the impact of the 16p11.2 duplication on neuronal structure and homeostatic plasticity in a mouse model, finding impaired synaptic upscaling and excessive GluA1 surface abundance.

This study identifies a soluble synaptic protein, 2{delta}-1, reduced in schizophrenia CSF, which enhances neuronal network dynamics and cognitive function when administered to a mouse model.

This study shows that ASD-associated CNTNAP2 variants reduce sCNTNAP2 levels and impair dendritic arborization through disrupted ectodomain shedding.

This study identifies PRRT2 as a key hub in an epilepsy network disrupted by 16p11.2 duplication and shows its correction rescues multiple neuropsychiatric and seizure-related phenotypes in mice.

The paper identifies multiple genes in cis regulated by a chromatin accessibility variant that contribute to synaptic dysfunction in human neurons associated with schizophrenia.