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36 Publications

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.” Cold Spring Harbor Laboratory, n.d.
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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): 1042. https://doi.org/10.3390/ijms21031042.
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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.
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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., e103358. https://doi.org/10.15252/embj.2019103358.
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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): 107647. https://doi.org/10.1016/j.celrep.2020.107647.
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2019 | Journal Article | IST-REx-ID: 105
Marsh, Ashley, Gaia Novarino, Paul Lockhart, and Richard Leventer. “CUGC for Pontocerebellar Hypoplasia Type 9 and Spastic Paraplegia-63.” European Journal of Human Genetics 27 (2019): 161–66. https://doi.org/10.1038/s41431-018-0231-2.
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2019 | Journal Article | IST-REx-ID: 6896
Oliveira, Bárbara, Aysan Çerağ Yahya, and Gaia Novarino. “Modeling Cell-Cell Interactions in the Brain Using Cerebral Organoids.” Brain Research 1724 (2019). https://doi.org/10.1016/j.brainres.2019.146458.
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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.
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2019 | Research Data | IST-REx-ID: 6074
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.
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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.
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