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30 Publications

2019 | 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 (2019).
View | DOI | PubMed | Europe PMC
 
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.
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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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2017 | Journal Article | IST-REx-ID: 540   OA
Characterization of host proteins interacting with the lymphocytic choriomeningitis virus L protein
K. Khamina, A. Lercher, M. Caldera, C. Schliehe, B. Vilagos, M. Sahin, L. Kosack, A. Bhattacharya, P. Májek, A. Stukalov, R. Sacco, L. James, D. Pinschewer, K. Bennett, J. Menche, A. Bergthaler, PLoS Pathogens 13 (2017).
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2017 | Book Chapter | IST-REx-ID: 634
Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder
J. Schroeder, E. Deliu, G. Novarino, M. Schmeisser, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 189–211.
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2017 | Journal Article | IST-REx-ID: 689
Rett syndrome modeling goes simian
G. Novarino, Science Translational Medicine 9 (2017).
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2017 | Journal Article | IST-REx-ID: 747
Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus
E. Brǎiloiu, M. Mcguire, S. Shuler, E. Deliu, J. Barr, M. Abood, G. Brailoiu, Neuroscience 365 (2017) 23–32.
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2017 | Journal Article | IST-REx-ID: 1228   OA
Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence
U. Sauerzopf, R. Sacco, G. Novarino, M. Niello, A. Weidenauer, N. Praschak Rieder, H. Sitte, M. Willeit, European Journal of Neuroscience 45 (2017) 45–57.
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2017 | Book Chapter | IST-REx-ID: 623
Extracerebral dysfunction in animal models of autism spectrum disorder
E. Hill Yardin, S. Mckeown, G. Novarino, A. Grabrucker, in:, M. Schmeisser, T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder, Springer, 2017, pp. 159–187.
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2017 | Journal Article | IST-REx-ID: 731
The science of love in ASD and ADHD
G. Novarino, Science Translational Medicine 9 (2017).
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2016 | Journal Article | IST-REx-ID: 1240   OA
Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans
A. Kornienko, C. Dotter, P. Guenzl, H. Gisslinger, B. Gisslinger, C. Cleary, R. Kralovics, F. Pauler, D. Barlow, Genome Biology 17 (2016).
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2016 | Journal Article | IST-REx-ID: 1183
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
D.-C. Tarlungeanu, E. Deliu, C. Dotter, M. Kara, P. Janiesch, M. Scalise, M. Galluccio, M. Tesulov, E. Morelli, F. Sönmez, K. Bilgüvar, R. Ohgaki, Y. Kanai, A. Johansen, S. Esharif, T. Ben Omran, M. Topcu, A. Schlessinger, C. Indiveri, K. Duncan, A. Caglayan, M. Günel, J. Gleeson, G. Novarino, Cell 167 (2016) 1481–1494.
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2015 | Journal Article | IST-REx-ID: 1497   OA
Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data
D. Andergassen, C. Dotter, T. Kulinski, P. Guenzl, P. Bammer, D. Barlow, F. Pauler, Q. Hudson, Nucleic Acids Research 43 (2015).
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2015 | Journal Article | IST-REx-ID: 1789   OA
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
A. Kuechler, A. Zink, T. Wieland, H. Lüdecke, K. Cremer, L. Salviati, P. Magini, K. Najafi, C. Zweier, J. Czeschik, S. Aretz, S. Endele, F. Tamburrino, C. Pinato, M. Clementi, J. Gundlach, C. Maylahn, L. Mazzanti, E. Wohlleber, T. Schwarzmayr, R. Kariminejad, A. Schlessinger, D. Wieczorek, T. Strom, G. Novarino, H. Engels, European Journal of Human Genetics 23 (2015) 753–760.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
2014 | Journal Article | IST-REx-ID: 1916
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
G. Novarino, A. Fenstermaker, M. Zaki, M. Hofree, J. Silhavy, A. Heiberg, M. Abdellateef, B. Rosti, E. Scott, L. Mansour, A. Masri, H. Kayserili, J. Al Aama, G. Abdel Salam, A. Karminejad, M. Kara, B. Kara, B. Bozorgmehri, T. Ben Omran, F. Mojahedi, I. Mahmoud, N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein, L. Raymond, S. Forlani, M. Mascaro, L. Selim, N. Shehata, N. Al Allawi, P. Bindu, M. Azam, M. Günel, A. Caglayan, K. Bilgüvar, A. Tolun, M. Issa, J. Schroth, E. Spencer, R. Rosti, N. Akizu, K. Vaux, A. Johansen, A. Koh, H. Megahed, A. Dürr, A. Brice, G. Stévanin, S. Gabriel, T. Ideker, J. Gleeson, Science 343 (2014) 506–511.
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