Gaia Novarino

Novarino Group

50 Publications

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[50]
2023 | Journal Article | IST-REx-ID: 14443
Addressing global environmental challenges to mental health using population neuroscience: A review
Schumann G, Andreassen OA, Banaschewski T, Calhoun VD, Clinton N, Desrivieres S, Brandlistuen RE, Feng J, Hese S, Hitchen E, Hoffmann P, Jia T, Jirsa V, Marquand AF, Nees F, Nöthen MM, Novarino G, Polemiti E, Ralser M, Rapp M, Schepanski K, Schikowski T, Slater M, Sommer P, Stahl BC, Thompson PM, Twardziok S, Van Der Meer D, Walter H, Westlye L. 2023. Addressing global environmental challenges to mental health using population neuroscience: A review. JAMA Psychiatry. 80(10), 1066–1074.
View | DOI | PubMed | Europe PMC
 
[49]
2023 | Journal Article | IST-REx-ID: 13168 | OA
Effects of urban living environments on mental health in adults
Xu J, Liu N, Polemiti E, Garcia-Mondragon L, Tang J, Liu X, Lett T, Yu L, Nöthen MM, Feng J, Yu C, Marquand A, Schumann G, Walter H, Heinz A, Ralser M, Twardziok S, Vaidya N, Serin E, Jentsch M, Hitchen E, Eils R, Taron UH, Schütz T, Schepanski K, Banks J, Banaschewski T, Jansone K, Christmann N, Meyer-Lindenberg A, Tost H, Holz N, Schwarz E, Stringaris A, Neidhart M, Nees F, Siehl S, A. Andreassen O, T. Westlye L, Van Der Meer D, Fernandez S, Kjelkenes R, Ask H, Rapp M, Tschorn M, Böttger SJ, Novarino G, Marr L, Slater M, Viapiana GF, Orosa FE, Gallego J, Pastor A, Forstner A, Hoffmann P, M. Nöthen M, J. Forstner A, Claus I, Miller A, Heilmann-Heimbach S, Sommer P, Boye M, Wilbertz J, Schmitt K, Jirsa V, Petkoski S, Pitel S, Otten L, Athanasiadis AP, Pearmund C, Spanlang B, Alvarez E, Sanchez M, Giner A, Hese S, Renner P, Jia T, Gong Y, Xia Y, Chang X, Calhoun V, Liu J, Thompson P, Clinton N, Desrivieres S, H. Young A, Stahl B, Ogoh G. 2023. Effects of urban living environments on mental health in adults. Nature Medicine. 29, 1456–1467.
[Published Version] View | Files available | DOI | WoS
 
[48]
2023 | Journal Article | IST-REx-ID: 14455 | OA
Tempering expectations: Considerations on the current state of stem cells therapy for autism treatment
A. Narzisi, A. Halladay, G. Masi, G. Novarino, C. Lord, Frontiers in Psychiatry 14 (2023).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[47]
2023 | Journal Article | IST-REx-ID: 13267 | OA
Dense 4D nanoscale reconstruction of living brain tissue
P. Velicky, E. Miguel Villalba, J.M. Michalska, J. Lyudchik, D. Wei, Z. Lin, J. Watson, J. Troidl, J. Beyer, Y. Ben Simon, C.M. Sommer, W. Jahr, A. Cenameri, J. Broichhagen, S.G.N. Grant, P.M. Jonas, G. Novarino, H. Pfister, B. Bickel, J.G. Danzl, Nature Methods 20 (2023) 1256–1265.
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[46]
2023 | Journal Article | IST-REx-ID: 12802 | OA
Large neutral amino acid levels tune perinatal neuronal excitability and survival
L. Knaus, B. Basilico, D. Malzl, M. Gerykova Bujalkova, M. Smogavec, L.A. Schwarz, S. Gorkiewicz, N. Amberg, F. Pauler, C. Knittl-Frank, M. Tassinari, N. Maulide, T. Rülicke, J. Menche, S. Hippenmeyer, G. Novarino, Cell 186 (2023) 1950–1967.e25.
[Published Version] View | Files available | DOI | WoS
 
[45]
2023 | Journal Article | IST-REx-ID: 14257 | OA
Imaging brain tissue architecture across millimeter to nanometer scales
J.M. Michalska, J. Lyudchik, P. Velicky, H. Korinkova, J. Watson, A. Cenameri, C.M. Sommer, N. Amberg, A. Venturino, K. Roessler, T. Czech, R. Höftberger, S. Siegert, G. Novarino, P.M. Jonas, J.G. Danzl, Nature Biotechnology (2023).
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS
 
[44]
2022 | Journal Article | IST-REx-ID: 12174 | OA
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis
Guerrini R, Mei D, Szigeti MK, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, Masuelli L, Conti V, Novarino G, Fassio A. 2022. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. Brain. 145(8), 2687–2703.
[Published Version] View | DOI | Download Published Version (ext.) | WoS
 
[43]
2022 | Journal Article | IST-REx-ID: 11160 | OA
CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories
C.E. Villa, C. Cheroni, C. Dotter, A. López-Tóbon, B. Oliveira, R. Sacco, A.Ç. Yahya, J. Morandell, M. Gabriele, M. Tavakoli, J. Lyudchik, C.M. Sommer, M. Gabitto, J.G. Danzl, G. Testa, G. Novarino, Cell Reports 39 (2022).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[42]
2022 | Preprint | IST-REx-ID: 11943 | OA
Saturated reconstruction of living brain tissue
P. Velicky, E. Miguel Villalba, J.M. Michalska, D. Wei, Z. Lin, J. Watson, J. Troidl, J. Beyer, Y. Ben Simon, C.M. Sommer, W. Jahr, A. Cenameri, J. Broichhagen, S.G.N. Grant, P.M. Jonas, G. Novarino, H. Pfister, B. Bickel, J.G. Danzl, BioRxiv (n.d.).
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[41]
2022 | Preprint | IST-REx-ID: 11950 | OA
Uncovering brain tissue architecture across scales with super-resolution light microscopy
J.M. Michalska, J. Lyudchik, P. Velicky, H. Korinkova, J. Watson, A. Cenameri, C.M. Sommer, A. Venturino, K. Roessler, T. Czech, S. Siegert, G. Novarino, P.M. Jonas, J.G. Danzl, BioRxiv (n.d.).
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[40]
2021 | Journal Article | IST-REx-ID: 10281 | OA
Translating the role of mtor-and ras-associated signalopathies in autism spectrum disorder: Models, mechanisms and treatment
V. Vasic, M.S.O. Jones, D. Haslinger, L. Knaus, M.J. Schmeisser, G. Novarino, A.G. Chiocchetti, Genes 12 (2021).
[Published Version] View | Files available | DOI | WoS
 
[39]
2021 | Journal Article | IST-REx-ID: 8730 | OA
Complete inhibition of ABCB1 and ABCG2 at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib
N. Tournier, S. Goutal, S. Mairinger, I. Lozano, T. Filip, M. Sauberer, F. Caillé, L. Breuil, J. Stanek, A. Freeman, G. Novarino, C. Truillet, T. Wanek, O. Langer, Journal of Cerebral Blood Flow and Metabolism 41 (2021) 1634–1646.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[38]
2021 | Journal Article | IST-REx-ID: 9429 | OA
Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, G.A. Dimchev, A. Nicolas, C.M. Sommer, C. Kreuzinger, C. Dotter, L. Knaus, Z. Dobler, E. Cacci, F.K. Schur, J.G. Danzl, G. Novarino, Nature Communications 12 (2021).
[Published Version] View | Files available | DOI | WoS
 
[37]
2020 | Journal Article | IST-REx-ID: 7586 | OA
Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration
S. Weinert, N. Gimber, D. Deuschel, T. Stuhlmann, D. Puchkov, Z. Farsi, C.F. Ludwig, G. Novarino, K.I. López-Cayuqueo, R. Planells-Cases, T.J. Jentsch, EMBO Journal 39 (2020).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[36]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Neurodevelopmental disorders: From genetics to functional pathways
I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences 43 (2020) 608–621.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[35]
2020 | Preprint | IST-REx-ID: 7800 | OA
Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, A. Nicolas, C.M. Sommer, C. Kreuzinger, L. Knaus, Z. Dobler, E. Cacci, J.G. Danzl, G. Novarino, BioRxiv (n.d.).
[Preprint] View | Files available | DOI
 
[34]
2020 | Journal Article | IST-REx-ID: 8131 | OA
Molecular mechanisms for targeted ASD treatments
B. Basilico, J. Morandell, G. Novarino, Current Opinion in Genetics and Development 65 (2020) 126–137.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[33]
2019 | Journal Article | IST-REx-ID: 105 | OA
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.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[32]
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.
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[31]
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).
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[30]
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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[29]
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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[28]
2019 | Research Data | IST-REx-ID: 6074 | OA
Supplementary data for the research paper "Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition"
C. Dotter, G. Novarino, (2019).
[Published Version] View | Files available | DOI
 
[27]
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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[26]
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).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[25]
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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[24]
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.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | WoS | PubMed | Europe PMC
 
[23]
2018 | Journal Article | IST-REx-ID: 3 | OA
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.
[Submitted Version] View | Files available | DOI | WoS
 
[22]
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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[21]
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.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 656
Modeling Alzheimer's disease in mice with human neurons
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 667
The antisocial side of antibiotics
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
Rett syndrome modeling goes simian
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[17]
2017 | Journal Article | IST-REx-ID: 702
The riddle of CHD8 haploinsufficiency in autism spectrum disorder
G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 715
More excitation for Rett syndrome
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[15]
2017 | Journal Article | IST-REx-ID: 731
The science of love in ASD and ADHD
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[14]
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.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[13]
2016 | Journal Article | IST-REx-ID: 1183 | OA
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
Tarlungeanu D-C, Deliu E, Dotter C, Kara M, Janiesch P, Scalise M, Galluccio M, Tesulov M, Morelli E, Sönmez F, Bilgüvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan A, Günel M, Gleeson J, Novarino G. 2016. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 167(6), 1481–1494.
[Submitted Version] View | Files available | DOI
 
[12]
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
Kuechler A, Zink A, Wieland T, Lüdecke H, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik J, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom T, Novarino G, Engels H. 2015. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics. 23(6), 753–760.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1791
Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation
S. Baek, G. Kerjan, S. Bielas, J. Lee, A. Fenstermaker, G. Novarino, J. Gleeson, Neuron 82 (2014) 1255–1262.
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[10]
2014 | Journal Article | IST-REx-ID: 1916 | OA
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
Novarino G, Fenstermaker A, Zaki M, Hofree M, Silhavy J, Heiberg A, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al Aama J, Abdel Salam G, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al Allawi N, Bindu P, Azam M, Günel M, Caglayan A, Bilgüvar K, Tolun A, Issa M, Schroth J, Spencer E, Rosti R, Akizu N, Vaux K, Johansen A, Koh A, Megahed H, Dürr A, Brice A, Stévanin G, Gabriel S, Ideker T, Gleeson J. 2014. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 343(6170), 506–511.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
The sacred disease: The puzzling genetics of epileptic disorders
G. Novarino, S. Baek, J. Gleeson, Neuron 80 (2013) 9–11.
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[8]
2012 | Journal Article | IST-REx-ID: 2313
Exome sequencing can improve diagnosis and alter patient management
Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J. 2012. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4(138).
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[7]
2012 | Journal Article | IST-REx-ID: 2314
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, Silhavy J, Kara M, Khalil R, Ben Omran T, Ercan Sencicek A, Hashish A, Sanders S, Gupta A, Hashem H, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris R, State M, Gleeson J. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 338(6105), 394–397.
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[6]
2011 | Book Review | IST-REx-ID: 2312
Modeling human disease in humans: The ciliopathies
G. Novarino, N. Akizu, J. Gleeson, Cell 147 (2011) 70–79.
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[5]
2010 | Book Chapter | IST-REx-ID: 2309
The CLC family of chloride channels and transporters
T. Stauber, G. Novarino, T. Jentsch, in:, Physiology and Pathology of Chloride Transporters and Channels in the Nervous System, Elsevier, 2010, pp. 209–231.
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[4]
2010 | Journal Article | IST-REx-ID: 2311
Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation
G. Rickheit, L. Wartosch, S. Schaffer, S. Stobrawa, G. Novarino, S. Weinert, T. Jentsch, Journal of Biological Chemistry 285 (2010) 17595–17603.
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[3]
2010 | Journal Article | IST-REx-ID: 2310
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis
G. Novarino, S. Weinert, G. Rickheit, T. Jentsch, Science 328 (2010) 1398–1401.
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[2]
2005 | Journal Article | IST-REx-ID: 2307
Substrate binding stoichiometry and kinetics of the norepinephrine transporter
J. Schwartz, G. Novarino, D. Piston, L. Defelice, Journal of Biological Chemistry 280 (2005) 19177–19184.
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[1]
2004 | Journal Article | IST-REx-ID: 2308
Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity
G. Novarino, C. Fabrizi, R. Tonini, M. Denti, A. Malchiodi, G. Lauro, B. Sacchetti, S. Paradisi, A. Ferroni, P. Curmi, S. Breit, M. Mazzanti, Journal of Neuroscience 24 (2004) 5322–5330.
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50 Publications

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[50]
2023 | Journal Article | IST-REx-ID: 14443
Addressing global environmental challenges to mental health using population neuroscience: A review
Schumann G, Andreassen OA, Banaschewski T, Calhoun VD, Clinton N, Desrivieres S, Brandlistuen RE, Feng J, Hese S, Hitchen E, Hoffmann P, Jia T, Jirsa V, Marquand AF, Nees F, Nöthen MM, Novarino G, Polemiti E, Ralser M, Rapp M, Schepanski K, Schikowski T, Slater M, Sommer P, Stahl BC, Thompson PM, Twardziok S, Van Der Meer D, Walter H, Westlye L. 2023. Addressing global environmental challenges to mental health using population neuroscience: A review. JAMA Psychiatry. 80(10), 1066–1074.
View | DOI | PubMed | Europe PMC
 
[49]
2023 | Journal Article | IST-REx-ID: 13168 | OA
Effects of urban living environments on mental health in adults
Xu J, Liu N, Polemiti E, Garcia-Mondragon L, Tang J, Liu X, Lett T, Yu L, Nöthen MM, Feng J, Yu C, Marquand A, Schumann G, Walter H, Heinz A, Ralser M, Twardziok S, Vaidya N, Serin E, Jentsch M, Hitchen E, Eils R, Taron UH, Schütz T, Schepanski K, Banks J, Banaschewski T, Jansone K, Christmann N, Meyer-Lindenberg A, Tost H, Holz N, Schwarz E, Stringaris A, Neidhart M, Nees F, Siehl S, A. Andreassen O, T. Westlye L, Van Der Meer D, Fernandez S, Kjelkenes R, Ask H, Rapp M, Tschorn M, Böttger SJ, Novarino G, Marr L, Slater M, Viapiana GF, Orosa FE, Gallego J, Pastor A, Forstner A, Hoffmann P, M. Nöthen M, J. Forstner A, Claus I, Miller A, Heilmann-Heimbach S, Sommer P, Boye M, Wilbertz J, Schmitt K, Jirsa V, Petkoski S, Pitel S, Otten L, Athanasiadis AP, Pearmund C, Spanlang B, Alvarez E, Sanchez M, Giner A, Hese S, Renner P, Jia T, Gong Y, Xia Y, Chang X, Calhoun V, Liu J, Thompson P, Clinton N, Desrivieres S, H. Young A, Stahl B, Ogoh G. 2023. Effects of urban living environments on mental health in adults. Nature Medicine. 29, 1456–1467.
[Published Version] View | Files available | DOI | WoS
 
[48]
2023 | Journal Article | IST-REx-ID: 14455 | OA
Tempering expectations: Considerations on the current state of stem cells therapy for autism treatment
A. Narzisi, A. Halladay, G. Masi, G. Novarino, C. Lord, Frontiers in Psychiatry 14 (2023).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[47]
2023 | Journal Article | IST-REx-ID: 13267 | OA
Dense 4D nanoscale reconstruction of living brain tissue
P. Velicky, E. Miguel Villalba, J.M. Michalska, J. Lyudchik, D. Wei, Z. Lin, J. Watson, J. Troidl, J. Beyer, Y. Ben Simon, C.M. Sommer, W. Jahr, A. Cenameri, J. Broichhagen, S.G.N. Grant, P.M. Jonas, G. Novarino, H. Pfister, B. Bickel, J.G. Danzl, Nature Methods 20 (2023) 1256–1265.
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[46]
2023 | Journal Article | IST-REx-ID: 12802 | OA
Large neutral amino acid levels tune perinatal neuronal excitability and survival
L. Knaus, B. Basilico, D. Malzl, M. Gerykova Bujalkova, M. Smogavec, L.A. Schwarz, S. Gorkiewicz, N. Amberg, F. Pauler, C. Knittl-Frank, M. Tassinari, N. Maulide, T. Rülicke, J. Menche, S. Hippenmeyer, G. Novarino, Cell 186 (2023) 1950–1967.e25.
[Published Version] View | Files available | DOI | WoS
 
[45]
2023 | Journal Article | IST-REx-ID: 14257 | OA
Imaging brain tissue architecture across millimeter to nanometer scales
J.M. Michalska, J. Lyudchik, P. Velicky, H. Korinkova, J. Watson, A. Cenameri, C.M. Sommer, N. Amberg, A. Venturino, K. Roessler, T. Czech, R. Höftberger, S. Siegert, G. Novarino, P.M. Jonas, J.G. Danzl, Nature Biotechnology (2023).
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS
 
[44]
2022 | Journal Article | IST-REx-ID: 12174 | OA
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis
Guerrini R, Mei D, Szigeti MK, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, Masuelli L, Conti V, Novarino G, Fassio A. 2022. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. Brain. 145(8), 2687–2703.
[Published Version] View | DOI | Download Published Version (ext.) | WoS
 
[43]
2022 | Journal Article | IST-REx-ID: 11160 | OA
CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories
C.E. Villa, C. Cheroni, C. Dotter, A. López-Tóbon, B. Oliveira, R. Sacco, A.Ç. Yahya, J. Morandell, M. Gabriele, M. Tavakoli, J. Lyudchik, C.M. Sommer, M. Gabitto, J.G. Danzl, G. Testa, G. Novarino, Cell Reports 39 (2022).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[42]
2022 | Preprint | IST-REx-ID: 11943 | OA
Saturated reconstruction of living brain tissue
P. Velicky, E. Miguel Villalba, J.M. Michalska, D. Wei, Z. Lin, J. Watson, J. Troidl, J. Beyer, Y. Ben Simon, C.M. Sommer, W. Jahr, A. Cenameri, J. Broichhagen, S.G.N. Grant, P.M. Jonas, G. Novarino, H. Pfister, B. Bickel, J.G. Danzl, BioRxiv (n.d.).
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[41]
2022 | Preprint | IST-REx-ID: 11950 | OA
Uncovering brain tissue architecture across scales with super-resolution light microscopy
J.M. Michalska, J. Lyudchik, P. Velicky, H. Korinkova, J. Watson, A. Cenameri, C.M. Sommer, A. Venturino, K. Roessler, T. Czech, S. Siegert, G. Novarino, P.M. Jonas, J.G. Danzl, BioRxiv (n.d.).
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[40]
2021 | Journal Article | IST-REx-ID: 10281 | OA
Translating the role of mtor-and ras-associated signalopathies in autism spectrum disorder: Models, mechanisms and treatment
V. Vasic, M.S.O. Jones, D. Haslinger, L. Knaus, M.J. Schmeisser, G. Novarino, A.G. Chiocchetti, Genes 12 (2021).
[Published Version] View | Files available | DOI | WoS
 
[39]
2021 | Journal Article | IST-REx-ID: 8730 | OA
Complete inhibition of ABCB1 and ABCG2 at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib
N. Tournier, S. Goutal, S. Mairinger, I. Lozano, T. Filip, M. Sauberer, F. Caillé, L. Breuil, J. Stanek, A. Freeman, G. Novarino, C. Truillet, T. Wanek, O. Langer, Journal of Cerebral Blood Flow and Metabolism 41 (2021) 1634–1646.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[38]
2021 | Journal Article | IST-REx-ID: 9429 | OA
Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, G.A. Dimchev, A. Nicolas, C.M. Sommer, C. Kreuzinger, C. Dotter, L. Knaus, Z. Dobler, E. Cacci, F.K. Schur, J.G. Danzl, G. Novarino, Nature Communications 12 (2021).
[Published Version] View | Files available | DOI | WoS
 
[37]
2020 | Journal Article | IST-REx-ID: 7586 | OA
Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration
S. Weinert, N. Gimber, D. Deuschel, T. Stuhlmann, D. Puchkov, Z. Farsi, C.F. Ludwig, G. Novarino, K.I. López-Cayuqueo, R. Planells-Cases, T.J. Jentsch, EMBO Journal 39 (2020).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[36]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Neurodevelopmental disorders: From genetics to functional pathways
I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences 43 (2020) 608–621.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[35]
2020 | Preprint | IST-REx-ID: 7800 | OA
Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development
J. Morandell, L.A. Schwarz, B. Basilico, S. Tasciyan, A. Nicolas, C.M. Sommer, C. Kreuzinger, L. Knaus, Z. Dobler, E. Cacci, J.G. Danzl, G. Novarino, BioRxiv (n.d.).
[Preprint] View | Files available | DOI
 
[34]
2020 | Journal Article | IST-REx-ID: 8131 | OA
Molecular mechanisms for targeted ASD treatments
B. Basilico, J. Morandell, G. Novarino, Current Opinion in Genetics and Development 65 (2020) 126–137.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[33]
2019 | Journal Article | IST-REx-ID: 105 | OA
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.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[32]
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 | WoS | PubMed | Europe PMC
 
[31]
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 | WoS | PubMed | Europe PMC
 
[30]
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.
View | DOI | WoS
 
[29]
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.
View | DOI | WoS
 
[28]
2019 | Research Data | IST-REx-ID: 6074 | OA
Supplementary data for the research paper "Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition"
C. Dotter, G. Novarino, (2019).
[Published Version] View | Files available | DOI
 
[27]
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).
View | DOI
 
[26]
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).
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[25]
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.
View | DOI | WoS
 
[24]
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.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | WoS | PubMed | Europe PMC
 
[23]
2018 | Journal Article | IST-REx-ID: 3 | OA
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.
[Submitted Version] View | Files available | DOI | WoS
 
[22]
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.
View | DOI
 
[21]
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.
View | DOI
 
[20]
2017 | Journal Article | IST-REx-ID: 656
Modeling Alzheimer's disease in mice with human neurons
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[19]
2017 | Journal Article | IST-REx-ID: 667
The antisocial side of antibiotics
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[18]
2017 | Journal Article | IST-REx-ID: 689
Rett syndrome modeling goes simian
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[17]
2017 | Journal Article | IST-REx-ID: 702
The riddle of CHD8 haploinsufficiency in autism spectrum disorder
G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
View | DOI
 
[16]
2017 | Journal Article | IST-REx-ID: 715
More excitation for Rett syndrome
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[15]
2017 | Journal Article | IST-REx-ID: 731
The science of love in ASD and ADHD
G. Novarino, Science Translational Medicine 9 (2017).
View | DOI
 
[14]
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.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[13]
2016 | Journal Article | IST-REx-ID: 1183 | OA
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder
Tarlungeanu D-C, Deliu E, Dotter C, Kara M, Janiesch P, Scalise M, Galluccio M, Tesulov M, Morelli E, Sönmez F, Bilgüvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan A, Günel M, Gleeson J, Novarino G. 2016. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 167(6), 1481–1494.
[Submitted Version] View | Files available | DOI
 
[12]
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
Kuechler A, Zink A, Wieland T, Lüdecke H, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik J, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom T, Novarino G, Engels H. 2015. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics. 23(6), 753–760.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 
[11]
2014 | Journal Article | IST-REx-ID: 1791
Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation
S. Baek, G. Kerjan, S. Bielas, J. Lee, A. Fenstermaker, G. Novarino, J. Gleeson, Neuron 82 (2014) 1255–1262.
View | DOI
 
[10]
2014 | Journal Article | IST-REx-ID: 1916 | OA
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
Novarino G, Fenstermaker A, Zaki M, Hofree M, Silhavy J, Heiberg A, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al Aama J, Abdel Salam G, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al Allawi N, Bindu P, Azam M, Günel M, Caglayan A, Bilgüvar K, Tolun A, Issa M, Schroth J, Spencer E, Rosti R, Akizu N, Vaux K, Johansen A, Koh A, Megahed H, Dürr A, Brice A, Stévanin G, Gabriel S, Ideker T, Gleeson J. 2014. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 343(6170), 506–511.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 
[9]
2013 | Journal Article | IST-REx-ID: 1790
The sacred disease: The puzzling genetics of epileptic disorders
G. Novarino, S. Baek, J. Gleeson, Neuron 80 (2013) 9–11.
View | DOI
 
[8]
2012 | Journal Article | IST-REx-ID: 2313
Exome sequencing can improve diagnosis and alter patient management
Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J. 2012. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4(138).
View | DOI
 
[7]
2012 | Journal Article | IST-REx-ID: 2314
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, Silhavy J, Kara M, Khalil R, Ben Omran T, Ercan Sencicek A, Hashish A, Sanders S, Gupta A, Hashem H, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris R, State M, Gleeson J. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 338(6105), 394–397.
View | DOI
 
[6]
2011 | Book Review | IST-REx-ID: 2312
Modeling human disease in humans: The ciliopathies
G. Novarino, N. Akizu, J. Gleeson, Cell 147 (2011) 70–79.
View | DOI
 
[5]
2010 | Book Chapter | IST-REx-ID: 2309
The CLC family of chloride channels and transporters
T. Stauber, G. Novarino, T. Jentsch, in:, Physiology and Pathology of Chloride Transporters and Channels in the Nervous System, Elsevier, 2010, pp. 209–231.
View | DOI
 
[4]
2010 | Journal Article | IST-REx-ID: 2311
Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation
G. Rickheit, L. Wartosch, S. Schaffer, S. Stobrawa, G. Novarino, S. Weinert, T. Jentsch, Journal of Biological Chemistry 285 (2010) 17595–17603.
View | DOI
 
[3]
2010 | Journal Article | IST-REx-ID: 2310
Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis
G. Novarino, S. Weinert, G. Rickheit, T. Jentsch, Science 328 (2010) 1398–1401.
View | DOI
 
[2]
2005 | Journal Article | IST-REx-ID: 2307
Substrate binding stoichiometry and kinetics of the norepinephrine transporter
J. Schwartz, G. Novarino, D. Piston, L. Defelice, Journal of Biological Chemistry 280 (2005) 19177–19184.
View | DOI
 
[1]
2004 | Journal Article | IST-REx-ID: 2308
Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity
G. Novarino, C. Fabrizi, R. Tonini, M. Denti, A. Malchiodi, G. Lauro, B. Sacchetti, S. Paradisi, A. Ferroni, P. Curmi, S. Breit, M. Mazzanti, Journal of Neuroscience 24 (2004) 5322–5330.
View | DOI
 
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