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61 Publications


2020 | Journal Article | IST-REx-ID: 7877 | OA
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, Van Staveren T, Van Ijcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. 2020. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 31(7), 107647.
[Published Version] View | Files available | DOI | WoS
 

2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 2020;43(8):608-621. doi:10.1016/j.tins.2020.05.004
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 

2020 | Thesis | IST-REx-ID: 8620 | OA
Morandell J. Illuminating the role of Cul3 in autism spectrum disorder pathogenesis. 2020. doi:10.15479/AT:ISTA:8620
[Published Version] View | Files available | DOI
 

2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell J, Schwarz LA, Basilico B, et al. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. bioRxiv. doi:10.1101/2020.01.10.902064
[Preprint] View | Files available | DOI
 

2020 | Journal Article | IST-REx-ID: 8131 | OA
Basilico B, Morandell J, Novarino G. Molecular mechanisms for targeted ASD treatments. Current Opinion in Genetics and Development. 2020;65(12):126-137. doi:10.1016/j.gde.2020.06.004
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 

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