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33 Publications
2020 | Journal Article | IST-REx-ID: 7488 
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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| PubMed | Europe PMC
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: 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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| PubMed | Europe PMC
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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| PubMed | Europe PMC
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
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
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: 5888
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
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: 713
D. Andergassen et al., “Mapping the mouse Allelome reveals tissue specific regulation of allelic expression,” eLife, vol. 6, 2017.
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