Probing development and reversibility of autism spectrum disorders

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

3 Publications

2022 | Published | Thesis | IST-REx-ID: 12364 | OA
Transcriptional consequences of mutations in genes associated with Autism Spectrum Disorder
C. Dotter, Transcriptional Consequences of Mutations in Genes Associated with Autism Spectrum Disorder, Institute of Science and Technology Austria, 2022.
[Published Version] View | Files available | DOI
 
2018 | Published | Journal Article | IST-REx-ID: 3 | OA
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.
[Submitted Version] View | Files available | DOI | WoS
 
2018 | Published | 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.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | WoS | PubMed | Europe PMC
 

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