Probing development and reversibility of autism spectrum disorders

Project Period: 2016-09-01 – 2019-08-31
Externally Funded
Principal Investigator
Gaia Novarino
Department(s)
Novarino Group
Grant Number
401299
Funding Organisation
Simon_Foundation

2 Publications

2018 | Journal Article | IST-REx-ID: 3
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
E. Deliu, N. Arecco, J. Morandell, C. Dotter, X. Contreras, C. Girardot, E. Käsper, A. Kozlova, K. Kishi, I. Chiaradia, K. Noh, G. Novarino, Nature Neuroscience 21 (2018) 1717–1727.
View | Files available | DOI
 
2018 | Journal Article | IST-REx-ID: 691   OA
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features
I. Marin Valencia, G. Novarino, A. Johansen, B. Rosti, M. Issa, D. Musaev, G. Bhat, E. Scott, J. Silhavy, V. Stanley, R. Rosti, J. Gleeson, F. Imam, M. Zaki, J. Gleeson, Journal of Medical Genetics 55 (2018) 48–54.
View | DOI | Download (ext.) | PubMed | Europe PMC