Sandra Martín Lorenzo

Experiments across four laboratories found that arbaclofen rescued cognitive deficits in mouse models of 16p11.2 deletion, without sedation or significant off-target behavioral effects.

The paper identifies developing interneurons as a potential target for autism genetic risk factors by analyzing human and rodent neural data.

This study investigates a missense Fmr1 mutation in mice, showing increased spine density, synaptic defects, and cognitive deficits linked to Fragile X syndrome.

The paper identifies six biological cascades involving key genes that alter behaviour and cognition in Down syndrome mouse models.

The paper investigates the oligogenic effects of 16p11.2 copy number variation on craniofacial development across species, showing that individual genes and their combinations influence facial structure.