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32 Publications

2020 | Journal Article | IST-REx-ID: 7488   OA
Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes
A. Latorre-Pellicer, Á. Ascaso, L. Trujillano, M. Gil-Salvador, M. Arnedo, C. Lucia-Campos, R. Antoñanzas-Pérez, I. Marcos-Alcalde, I. Parenti, G. Bueno-Lozano, A. Musio, B. Puisac, F.J. Kaiser, F.J. Ramos, P. Gómez-Puertas, J. Pié, International Journal of Molecular Sciences 21 (2020) 1042.
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2020 | Journal Article | IST-REx-ID: 7149
Chromatinopathies: A focus on Cornelia de Lange syndrome
L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa, Clinical Genetics 97 (2020) 3–11.
View | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 105
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63
A. Marsh, G. Novarino, P. Lockhart, R. Leventer, European Journal of Human Genetics 27 (2019) 161–166.
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2019 | Journal Article | IST-REx-ID: 6896
Modeling cell-cell interactions in the brain using cerebral organoids
B. Oliveira, A.Ç. Yahya, G. Novarino, Brain Research 1724 (2019).
View | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 7414
S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly
L. Knaus, D.-C. Tarlungeanu, G. Novarino, European Neuropsychopharmacology 29 (2019) S11.
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2019 | Journal Article | IST-REx-ID: 7415
S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism
J. Morandell, A. Nicolas, L.A. Schwarz, G. Novarino, European Neuropsychopharmacology 29 (2019) S11–S12.
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2019 | Journal Article | IST-REx-ID: 6088
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
A. Traxl, S. Mairinger, T. Filip, M. Sauberer, J. Stanek, S. Poschner, W. Jäger, V. Zoufal, G. Novarino, N. Tournier, M. Bauer, T. Wanek, O. Langer, Molecular Pharmaceutics 16 (2019) 1282–1293.
View | DOI | PubMed | Europe PMC
 
2019 | Journal Article | IST-REx-ID: 6470 View | DOI
 
2018 | Thesis | IST-REx-ID: 395   OA
The branched chain amino acids in autism spectrum disorders
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
Zika-associated microcephaly: Reduce the stress and race for the treatment
G. Novarino, Science Translational Medicine 10 (2018).
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2018 | Journal Article | IST-REx-ID: 691   OA
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features
I. Marin Valencia, G. Novarino, A. Johansen, B. Rosti, M. Issa, D. Musaev, G. Bhat, E. Scott, J. Silhavy, V. Stanley, R. Rosti, J. Gleeson, F. Imam, M. Zaki, J. Gleeson, Journal of Medical Genetics 55 (2018) 48–54.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
2018 | Journal Article | IST-REx-ID: 546
Neural stem cells in neuropsychiatric disorders
R. Sacco, E. Cacci, G. Novarino, Current Opinion in Neurobiology 48 (2018) 131–138.
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2018 | Journal Article | IST-REx-ID: 5888   OA
Genomics in neurodevelopmental disorders: an avenue to personalized medicine
D.-C. Tarlungeanu, G. Novarino, Experimental & Molecular Medicine 50 (2018).
View | Files available | DOI | PubMed | Europe PMC
 
2018 | Journal Article | IST-REx-ID: 3
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
E. Deliu, N. Arecco, J. Morandell, C. Dotter, X. Contreras, C. Girardot, E. Käsper, A. Kozlova, K. Kishi, I. Chiaradia, K. Noh, G. Novarino, Nature Neuroscience 21 (2018) 1717–1727.
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2017 | Journal Article | IST-REx-ID: 667
The antisocial side of antibiotics
G. Novarino, Science Translational Medicine 9 (2017).
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2017 | Journal Article | IST-REx-ID: 713   OA
Mapping the mouse Allelome reveals tissue specific regulation of allelic expression
D. Andergassen, C. Dotter, D. Wenzel, V. Sigl, P. Bammer, M. Muckenhuber, D. Mayer, T. Kulinski, H. Theussl, J. Penninger, C. Bock, D. Barlow, F. Pauler, Q. Hudson, ELife 6 (2017).
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2017 | Journal Article | IST-REx-ID: 656
Modeling Alzheimer's disease in mice with human neurons
G. Novarino, Science Translational Medicine 9 (2017).
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2017 | Journal Article | IST-REx-ID: 702
The riddle of CHD8 haploinsufficiency in autism spectrum disorder
G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
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2017 | Journal Article | IST-REx-ID: 714
HIV Tat excites D1 receptor-like expressing neurons from rat nucleus accumbens
G. Brailoiu, E. Deliu, J. Barr, L. Console Bram, A. Ciuciu, M. Abood, E. Unterwald, E. Brǎiloiu, Drug and Alcohol Dependence 178 (2017) 7–14.
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2017 | Journal Article | IST-REx-ID: 715
More excitation for Rett syndrome
G. Novarino, Science Translational Medicine 9 (2017).
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