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36 Publications

2020 | Preprint | IST-REx-ID: 7800   OA
J. Morandell et al., “Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.” Cold Spring Harbor Laboratory.
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2020 | Journal Article | IST-REx-ID: 7488   OA
A. Latorre-Pellicer et al., “Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes,” International Journal of Molecular Sciences, vol. 21, no. 3, p. 1042, 2020.
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2020 | Journal Article | IST-REx-ID: 7149
L. Avagliano et al., “Chromatinopathies: A focus on Cornelia de Lange syndrome,” Clinical Genetics, vol. 97, no. 1, pp. 3–11, 2020.
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2020 | Journal Article | IST-REx-ID: 7586   OA
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal, p. e103358.
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2020 | Journal Article | IST-REx-ID: 7877   OA
I. Parenti et al., “MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome,” Cell Reports, vol. 31, no. 7, p. 107647, 2020.
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2019 | Journal Article | IST-REx-ID: 105
A. Marsh, G. Novarino, P. Lockhart, and R. Leventer, “CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63,” European Journal of Human Genetics, vol. 27, pp. 161–166, 2019.
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2019 | Journal Article | IST-REx-ID: 6896
B. Oliveira, A. Ç. Yahya, and G. Novarino, “Modeling cell-cell interactions in the brain using cerebral organoids,” Brain Research, vol. 1724, 2019.
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2019 | Journal Article | IST-REx-ID: 7414
L. Knaus, D.-C. Tarlungeanu, and G. Novarino, “S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly,” European Neuropsychopharmacology, vol. 29, no. Supplement 6, p. S11, 2019.
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2019 | Research Data | IST-REx-ID: 6074
C. Dotter and G. Novarino, Supplementary data for the research paper “Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.” IST Austria, 2019.
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2019 | Journal Article | IST-REx-ID: 7415
J. Morandell, A. Nicolas, L. A. Schwarz, and G. Novarino, “S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism,” European Neuropsychopharmacology, vol. 29, no. Supplement 6, pp. S11–S12, 2019.
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