Please note that LibreCat no longer supports Internet Explorer versions 8 or 9 (or earlier).

We recommend upgrading to the latest Internet Explorer, Google Chrome, or Firefox.




38 Publications

2020 | Journal Article | IST-REx-ID: 7149
Avagliano, Laura, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, and Valentina Massa. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics 97, no. 1 (2020): 3–11. https://doi.org/10.1111/cge.13674.
View | DOI | PubMed | Europe PMC
 
2020 | Journal Article | IST-REx-ID: 7488 | OA
Latorre-Pellicer, Ana, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.” International Journal of Molecular Sciences 21, no. 3 (2020). https://doi.org/10.3390/ijms21031042.
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert, Stefanie, Niclas Gimber, Dorothea Deuschel, Till Stuhlmann, Dmytro Puchkov, Zohreh Farsi, Carmen F. Ludwig, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, n.d. https://doi.org/10.15252/embj.2019103358.
View | Files available | DOI
 
2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell, Jasmin, Lena A Schwarz, Bernadette Basilico, Saren Tasciyan, Armel Nicolas, Christoph M Sommer, Caroline Kreuzinger, et al. “Cul3 Regulates Cytoskeleton Protein Homeostasis and Cell Migration during a Critical Window of Brain Development.” BioRxiv. Cold Spring Harbor Laboratory, n.d.
View | Files available | Download Preprint (ext.)
 
2020 | Journal Article | IST-REx-ID: 7877 | OA
Parenti, Ilaria, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, et al. “MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.” Cell Reports 31, no. 7 (2020). https://doi.org/10.1016/j.celrep.2020.107647.
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti, Ilaria, Luis E Garcia Rabaneda, Hanna Schön, and Gaia Novarino. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” Trends in Neurosciences, n.d. https://doi.org/10.1016/j.tins.2020.05.004.
View | DOI | Download Published Version (ext.)
 
2020 | Journal Article | IST-REx-ID: 8131 | OA
Basilico, Bernadette, Jasmin Morandell, and Gaia Novarino. “Molecular Mechanisms for Targeted ASD Treatments.” Current Opinion in Genetics and Development 65, no. 12 (2020): 126–37. https://doi.org/10.1016/j.gde.2020.06.004.
View | Files available | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 7414
Knaus, Lisa, Dora-Clara Tarlungeanu, and Gaia Novarino. “S.16.03 A Homozygous Missense Mutation in SLC7A5 Leads to Autism Spectrum Disorder and Microcephaly.” European Neuropsychopharmacology 29, no. Supplement 6 (2019): S11. https://doi.org/10.1016/j.euroneuro.2019.09.039.
View | DOI
 
2019 | Journal Article | IST-REx-ID: 7415
Morandell, Jasmin, Armel Nicolas, Lena A Schwarz, and Gaia Novarino. “S.16.05 Illuminating the Role of the E3 Ubiquitin Ligase Cullin3 in Brain Development and Autism.” European Neuropsychopharmacology 29, no. Supplement 6 (2019): S11–12. https://doi.org/10.1016/j.euroneuro.2019.09.040.
View | DOI
 
2019 | Research Data | IST-REx-ID: 6074 | OA
Dotter, Christoph, and Gaia Novarino. Supplementary Data for the Research Paper “Haploinsufficiency of the Intellectual Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” IST Austria, 2019. https://doi.org/10.15479/AT:ISTA:6074.
View | Files available | DOI
 

Search

Display / Sort

Citation Style: Chicago

Export / Embed