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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: 7957   OA
I. Parenti, L. E. Garcia Rabaneda, H. Schön, and G. Novarino, “Neurodevelopmental disorders: From genetics to functional pathways,” Trends in Neurosciences.
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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 | 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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2019 | Journal Article | IST-REx-ID: 6088
A. Traxl et al., “Inhibition of ABCB1 and ABCG2 at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib,” Molecular Pharmaceutics, vol. 16, no. 3, pp. 1282–1293, 2019.
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2019 | Journal Article | IST-REx-ID: 6470
T. Éltes, M. Szoboszlay, M. K. Szigeti, and Z. Nusser, “Improved spike inference accuracy by estimating the peak amplitude of unitary [Ca2+] transients in weakly GCaMP6f-expressing hippocampal pyramidal cells,” Journal of Physiology, vol. 597, no. 11, pp. 2925–2947, 2019.
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2018 | Thesis | IST-REx-ID: 395   OA
D.-C. Tarlungeanu, The branched chain amino acids in autism spectrum disorders . IST Austria, 2018.
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2018 | Journal Article | IST-REx-ID: 456
G. Novarino, “Zika-associated microcephaly: Reduce the stress and race for the treatment,” Science Translational Medicine, vol. 10, no. 423, 2018.
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2018 | Journal Article | IST-REx-ID: 691   OA
I. Marin Valencia et al., “A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features,” Journal of Medical Genetics, vol. 55, no. 1, pp. 48–54, 2018.
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2018 | Journal Article | IST-REx-ID: 546
R. Sacco, E. Cacci, and G. Novarino, “Neural stem cells in neuropsychiatric disorders,” Current Opinion in Neurobiology, vol. 48, no. 2, pp. 131–138, 2018.
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2018 | Journal Article | IST-REx-ID: 5888   OA
D.-C. Tarlungeanu and G. Novarino, “Genomics in neurodevelopmental disorders: an avenue to personalized medicine,” Experimental & Molecular Medicine, vol. 50, no. 8, 2018.
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2018 | Journal Article | IST-REx-ID: 3   OA
E. Deliu et al., “Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition,” Nature Neuroscience, vol. 21, no. 12, pp. 1717–1727, 2018.
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2017 | Journal Article | IST-REx-ID: 667
G. Novarino, “The antisocial side of antibiotics,” Science Translational Medicine, vol. 9, no. 387, 2017.
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2017 | Journal Article | IST-REx-ID: 713   OA
D. Andergassen et al., “Mapping the mouse Allelome reveals tissue specific regulation of allelic expression,” eLife, vol. 6, 2017.
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