Mireia Coll-Tané

This study identifies EHMT1/G9a's role in sleep regulation through ROS homeostasis in insulin-producing cells, linking it to sleep disturbances in Kleefstra syndrome and common insomnia.

This study links metabolic vulnerability and sleep disturbances in Kleefstra syndrome using FDG-PET/CT imaging and Drosophila models.

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

The paper identifies a conserved gene co-expression module in Drosophila linked to epilepsy, showing metabolic rate and AMPK activity influence seizure susceptibility.