

Funded Projects
SFARI Funded Publications
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.
Deliu E., Arecco N., Morandell J., Dotter C.P., Contreras X., Girardot C., Käsper E.L., Kozlova A., Kishi K., Chiaradia I., Noh K.M., Novarino G.
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
Marin-Valencia I., Novarino G., Johansen A., Rosti B., Issa M.Y., Musaev D., Bhat G., Scott E., Silhavy J.L., Stanley V., Rosti R.O., Gleeson J.W., Imam F.B., Zaki M.S., Gleeson J.
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder.
Tarlungeanu D.C., Deliu E., Dotter C.P., Kara M., Janiesch P.C., Scalise M., Galluccio M., Tesulov M., Morelli E., Sonmez F.M., Bilguvar K., Ohgaki R., Kanai Y., Johansen A., Esharif S., Ben-Omran T., Topcu M., Schlessinger A., Indiveri C., Duncan K.E., Caglayan A.O., Gunel M., Gleeson J., Novarino G.