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38 Publications

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: 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, 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.
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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: 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, 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: 8131 | OA
B. Basilico, J. Morandell, and G. Novarino, “Molecular mechanisms for targeted ASD treatments,” Current Opinion in Genetics and Development, vol. 65, no. 12, pp. 126–137, 2020.
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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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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: 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 | Research Data | IST-REx-ID: 6074 | OA
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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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: 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 | 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: 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: 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: 540 | OA
K. Khamina et al., “Characterization of host proteins interacting with the lymphocytic choriomeningitis virus L protein,” PLoS Pathogens, vol. 13, no. 12, 2017.
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2017 | Book Chapter | IST-REx-ID: 623
E. Hill Yardin, S. Mckeown, G. Novarino, and A. Grabrucker, “Extracerebral dysfunction in animal models of autism spectrum disorder,” in Translational Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser and T. Boekers, Eds. Springer, 2017, pp. 159–187.
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2017 | Book Chapter | IST-REx-ID: 634
J. Schroeder, E. Deliu, G. Novarino, and M. Schmeisser, “Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder,” in Translational Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser and T. Boekers, Eds. Springer, 2017, pp. 189–211.
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2017 | Journal Article | IST-REx-ID: 656
G. Novarino, “Modeling Alzheimer’s disease in mice with human neurons,” Science Translational Medicine, vol. 9, no. 381, 2017.
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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: 689
G. Novarino, “Rett syndrome modeling goes simian,” Science Translational Medicine, vol. 9, no. 393, 2017.
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2017 | Journal Article | IST-REx-ID: 702
G. Novarino, “The riddle of CHD8 haploinsufficiency in autism spectrum disorder,” Science Translational Medicine, vol. 9, no. 399, p. eaao0972, 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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2017 | Journal Article | IST-REx-ID: 714 | OA
G. Brailoiu et al., “HIV Tat excites D1 receptor-like expressing neurons from rat nucleus accumbens,” Drug and Alcohol Dependence, vol. 178, pp. 7–14, 2017.
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2017 | Journal Article | IST-REx-ID: 715
G. Novarino, “More excitation for Rett syndrome,” Science Translational Medicine, vol. 9, no. 405, 2017.
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2017 | Journal Article | IST-REx-ID: 731
G. Novarino, “The science of love in ASD and ADHD,” Science Translational Medicine, vol. 9, no. 411, 2017.
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2017 | Journal Article | IST-REx-ID: 747 | OA
E. Brǎiloiu et al., “Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus,” Neuroscience, vol. 365, pp. 23–32, 2017.
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2017 | Journal Article | IST-REx-ID: 1228 | OA
U. Sauerzopf et al., “Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence,” European Journal of Neuroscience, vol. 45, no. 1, pp. 45–57, 2017.
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2016 | Journal Article | IST-REx-ID: 1183 | OA
D.-C. Tarlungeanu et al., “Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder,” Cell, vol. 167, no. 6, pp. 1481–1494, 2016.
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2016 | Journal Article | IST-REx-ID: 1240 | OA
A. Kornienko et al., “Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans,” Genome Biology, vol. 17, no. 1, 2016.
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2015 | Journal Article | IST-REx-ID: 1789 | OA
A. Kuechler et al., “Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome,” European Journal of Human Genetics, vol. 23, no. 6, pp. 753–760, 2015.
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2015 | Journal Article | IST-REx-ID: 1497 | OA
D. Andergassen et al., “Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data,” Nucleic Acids Research, vol. 43, no. 21, 2015.
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2014 | Journal Article | IST-REx-ID: 1916 | OA
G. Novarino et al., “Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders,” Science, vol. 343, no. 6170, pp. 506–511, 2014.
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