Gaia Novarino

Novarino Group

54 Publications

Mark all

[54]
2024 |Published| Journal Article | IST-REx-ID: 17091
G. Novarino and C. Bock, “Mapping the brain’s gene-regulatory maze,” Science, vol. 384, no. 6698. AAAS, pp. 860–861, 2024.
View | DOI | PubMed | Europe PMC
 
[53]
2024 |Epub ahead of print| Journal Article | IST-REx-ID: 17142 | OA
L. Burnett et al., “Shared behavioural impairments in visual perception and place avoidance across different autism models are driven by periaqueductal grey hypoexcitability in Setd5 haploinsufficient mice,” PLoS Biology, vol. 22. Public Library of Science, 2024.
[Published Version] View | Files available | DOI | Download Published Version (ext.)
 
[52]
2024 | Research Data | IST-REx-ID: 15385 | OA
L. Burnett et al., “Shared behavioural impairments in visual perception and place avoidance across different autism models are driven by periaqueductal grey hypoexcitability in Setd5 haploinsufficient mice.” Institute of Science and Technology Austria, 2024.
[Published Version] View | Files available | DOI
 
[51]
2023 |Published| Journal Article | IST-REx-ID: 14443
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
 
[50]
2023 |Published| Journal Article | IST-REx-ID: 13168 | OA
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
 
[49]
2023 |Published| Journal Article | IST-REx-ID: 14455 | OA
A. Narzisi, A. Halladay, G. Masi, G. Novarino, and C. Lord, “Tempering expectations: Considerations on the current state of stem cells therapy for autism treatment,” Frontiers in Psychiatry, vol. 14. Frontiers, 2023.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[48]
2023 |Published| Journal Article | IST-REx-ID: 13267 | OA
P. Velicky et al., “Dense 4D nanoscale reconstruction of living brain tissue,” Nature Methods, vol. 20. Springer Nature, pp. 1256–1265, 2023.
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[47]
2023 |Published| Journal Article | IST-REx-ID: 12802 | OA
L. Knaus et al., “Large neutral amino acid levels tune perinatal neuronal excitability and survival,” Cell, vol. 186, no. 9. Elsevier, p. 1950–1967.e25, 2023.
[Published Version] View | Files available | DOI | WoS
 
[46]
2023 |Epub ahead of print| Journal Article | IST-REx-ID: 14257 | OA
J. M. Michalska et al., “Imaging brain tissue architecture across millimeter to nanometer scales,” Nature Biotechnology. Springer Nature, 2023.
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS
 
[45]
2022 |Published| Journal Article | IST-REx-ID: 12174 | OA
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
 
[44]
2022 |Published| Book Chapter | IST-REx-ID: 17075
M. Palacín, S. Bröer, and G. Novarino, “Amino Acid Transport Defects,” in Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, 2nd ed., N. Blau, C. D. Vici, C. R. Ferreira, C. Vianey-Saban, and C. D. M. van Karnebeek, Eds. Cham: Springer Nature, 2022, pp. 291–312.
View | DOI
 
[43]
2022 |Published| Journal Article | IST-REx-ID: 11160 | OA
C. E. Villa et al., “CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories,” Cell Reports, vol. 39, no. 1. Elsevier, 2022.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[42]
2022 |Submitted| Preprint | IST-REx-ID: 11943 | OA
P. Velicky et al., “Saturated reconstruction of living brain tissue,” bioRxiv. Cold Spring Harbor Laboratory.
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[41]
2022 |Submitted| Preprint | IST-REx-ID: 11950 | OA
J. M. Michalska et al., “Uncovering brain tissue architecture across scales with super-resolution light microscopy,” bioRxiv. Cold Spring Harbor Laboratory.
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[40]
2021 |Published| Journal Article | IST-REx-ID: 10281 | OA
V. Vasic et al., “Translating the role of mtor-and ras-associated signalopathies in autism spectrum disorder: Models, mechanisms and treatment,” Genes, vol. 12, no. 11. MDPI, 2021.
[Published Version] View | Files available | DOI | WoS
 
[39]
2021 |Published| Journal Article | IST-REx-ID: 8730 | OA
N. Tournier et al., “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,” Journal of Cerebral Blood Flow and Metabolism, vol. 41, no. 7. SAGE Publications, pp. 1634–1646, 2021.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[38]
2021 |Published| Journal Article | IST-REx-ID: 9429 | OA
J. Morandell et al., “Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development,” Nature Communications, vol. 12, no. 1. Springer Nature, 2021.
[Published Version] View | Files available | DOI | WoS
 
[37]
2020 |Published| Journal Article | IST-REx-ID: 7586 | OA
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal, vol. 39. EMBO Press, 2020.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[36]
2020 |Published| 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, vol. 43, no. 8. Elsevier, pp. 608–621, 2020.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[35]
2020 |Submitted| 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,” bioRxiv. Cold Spring Harbor Laboratory.
[Preprint] View | Files available | DOI
 
[34]
2020 |Published| 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. Elsevier, pp. 126–137, 2020.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[33]
2019 |Published| Journal Article | IST-REx-ID: 105 | OA
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. Springer Nature, pp. 161–166, 2019.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[32]
2019 |Published| 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. American Chemical Society, pp. 1282–1293, 2019.
View | DOI | WoS | PubMed | Europe PMC
 
[31]
2019 |Published| 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. Elsevier, 2019.
View | DOI | WoS | PubMed | Europe PMC
 
[30]
2019 |Published| 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. Elsevier, pp. S11–S12, 2019.
View | DOI | WoS
 
[29]
2019 |Published| 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. Elsevier, p. S11, 2019.
View | DOI | WoS
 
[28]
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.’” Institute of Science and Technology Austria, 2019.
[Published Version] View | Files available | DOI
 
[27]
2018 |Published| 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. American Association for the Advancement of Science, 2018.
View | DOI
 
[26]
2018 |Published| 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. Springer Nature, 2018.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[25]
2018 |Published| 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. Elsevier, pp. 131–138, 2018.
View | DOI | WoS
 
[24]
2018 |Published| 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. BMJ Publishing Group, pp. 48–54, 2018.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | WoS | PubMed | Europe PMC
 
[23]
2018 |Published| 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. Nature Publishing Group, pp. 1717–1727, 2018.
[Submitted Version] View | Files available | DOI | WoS
 
[22]
2017 |Published| 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.
View | DOI
 
[21]
2017 |Published| 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.
View | DOI
 
[20]
2017 |Published| Journal Article | IST-REx-ID: 656
G. Novarino, “Modeling Alzheimer’s disease in mice with human neurons,” Science Translational Medicine, vol. 9, no. 381. American Association for the Advancement of Science, 2017.
View | DOI
 
[19]
2017 |Published| Journal Article | IST-REx-ID: 667
G. Novarino, “The antisocial side of antibiotics,” Science Translational Medicine, vol. 9, no. 387. American Association for the Advancement of Science, 2017.
View | DOI
 
[18]
2017 |Published| Journal Article | IST-REx-ID: 689
G. Novarino, “Rett syndrome modeling goes simian,” Science Translational Medicine, vol. 9, no. 393. American Association for the Advancement of Science, 2017.
View | DOI
 
[17]
2017 |Published| Journal Article | IST-REx-ID: 702
G. Novarino, “The riddle of CHD8 haploinsufficiency in autism spectrum disorder,” Science Translational Medicine, vol. 9, no. 399. American Association for the Advancement of Science, p. eaao0972, 2017.
View | DOI
 
[16]
2017 |Published| Journal Article | IST-REx-ID: 715
G. Novarino, “More excitation for Rett syndrome,” Science Translational Medicine, vol. 9, no. 405. American Association for the Advancement of Science, 2017.
View | DOI
 
[15]
2017 |Published| Journal Article | IST-REx-ID: 731
G. Novarino, “The science of love in ASD and ADHD,” Science Translational Medicine, vol. 9, no. 411. American Association for the Advancement of Science, 2017.
View | DOI
 
[14]
2017 |Published| 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. Wiley-Blackwell, pp. 45–57, 2017.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[13]
2016 |Published| Journal Article | IST-REx-ID: 1183 | OA
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 |Published| Journal Article | IST-REx-ID: 1789 | OA
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 |Published| Journal Article | IST-REx-ID: 1791
S. Baek et al., “Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation,” Neuron, vol. 82, no. 6. Elsevier, pp. 1255–1262, 2014.
View | DOI
 
[10]
2014 |Published| Journal Article | IST-REx-ID: 1916 | OA
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 |Published| Journal Article | IST-REx-ID: 1790
G. Novarino, S. Baek, and J. Gleeson, “The sacred disease: The puzzling genetics of epileptic disorders,” Neuron, vol. 80, no. 1. Elsevier, pp. 9–11, 2013.
View | DOI
 
[8]
2012 |Published| Journal Article | IST-REx-ID: 2313
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 |Published| Journal Article | IST-REx-ID: 2314
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 |Published| Book Review | IST-REx-ID: 2312
G. Novarino, N. Akizu, and J. Gleeson, “Modeling human disease in humans: The ciliopathies,” Cell, vol. 147, no. 1. Cell Press, pp. 70–79, 2011.
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[5]
2010 |Published| Book Chapter | IST-REx-ID: 2309
T. Stauber, G. Novarino, and T. Jentsch, “The CLC family of chloride channels and transporters,” in Physiology and Pathology of chloride transporters and channels in the nervous system, Elsevier, 2010, pp. 209–231.
View | DOI
 
[4]
2010 |Published| Journal Article | IST-REx-ID: 2311
G. Rickheit et al., “Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation,” Journal of Biological Chemistry, vol. 285, no. 23. American Society for Biochemistry and Molecular Biology, pp. 17595–17603, 2010.
View | DOI
 
[3]
2010 |Published| Journal Article | IST-REx-ID: 2310
G. Novarino, S. Weinert, G. Rickheit, and T. Jentsch, “Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis,” Science, vol. 328, no. 5984. American Association for the Advancement of Science, pp. 1398–1401, 2010.
View | DOI
 
[2]
2005 |Published| Journal Article | IST-REx-ID: 2307
J. Schwartz, G. Novarino, D. Piston, and L. Defelice, “Substrate binding stoichiometry and kinetics of the norepinephrine transporter,” Journal of Biological Chemistry, vol. 280, no. 19. American Society for Biochemistry and Molecular Biology, pp. 19177–19184, 2005.
View | DOI
 
[1]
2004 |Published| Journal Article | IST-REx-ID: 2308
G. Novarino et al., “Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity,” Journal of Neuroscience, vol. 24, no. 23. Society for Neuroscience, pp. 5322–5330, 2004.
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54 Publications

Mark all

[54]
2024 |Published| Journal Article | IST-REx-ID: 17091
G. Novarino and C. Bock, “Mapping the brain’s gene-regulatory maze,” Science, vol. 384, no. 6698. AAAS, pp. 860–861, 2024.
View | DOI | PubMed | Europe PMC
 
[53]
2024 |Epub ahead of print| Journal Article | IST-REx-ID: 17142 | OA
L. Burnett et al., “Shared behavioural impairments in visual perception and place avoidance across different autism models are driven by periaqueductal grey hypoexcitability in Setd5 haploinsufficient mice,” PLoS Biology, vol. 22. Public Library of Science, 2024.
[Published Version] View | Files available | DOI | Download Published Version (ext.)
 
[52]
2024 | Research Data | IST-REx-ID: 15385 | OA
L. Burnett et al., “Shared behavioural impairments in visual perception and place avoidance across different autism models are driven by periaqueductal grey hypoexcitability in Setd5 haploinsufficient mice.” Institute of Science and Technology Austria, 2024.
[Published Version] View | Files available | DOI
 
[51]
2023 |Published| Journal Article | IST-REx-ID: 14443
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
 
[50]
2023 |Published| Journal Article | IST-REx-ID: 13168 | OA
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
 
[49]
2023 |Published| Journal Article | IST-REx-ID: 14455 | OA
A. Narzisi, A. Halladay, G. Masi, G. Novarino, and C. Lord, “Tempering expectations: Considerations on the current state of stem cells therapy for autism treatment,” Frontiers in Psychiatry, vol. 14. Frontiers, 2023.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[48]
2023 |Published| Journal Article | IST-REx-ID: 13267 | OA
P. Velicky et al., “Dense 4D nanoscale reconstruction of living brain tissue,” Nature Methods, vol. 20. Springer Nature, pp. 1256–1265, 2023.
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[47]
2023 |Published| Journal Article | IST-REx-ID: 12802 | OA
L. Knaus et al., “Large neutral amino acid levels tune perinatal neuronal excitability and survival,” Cell, vol. 186, no. 9. Elsevier, p. 1950–1967.e25, 2023.
[Published Version] View | Files available | DOI | WoS
 
[46]
2023 |Epub ahead of print| Journal Article | IST-REx-ID: 14257 | OA
J. M. Michalska et al., “Imaging brain tissue architecture across millimeter to nanometer scales,” Nature Biotechnology. Springer Nature, 2023.
[Published Version] View | Files available | DOI | Download Published Version (ext.) | WoS
 
[45]
2022 |Published| Journal Article | IST-REx-ID: 12174 | OA
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
 
[44]
2022 |Published| Book Chapter | IST-REx-ID: 17075
M. Palacín, S. Bröer, and G. Novarino, “Amino Acid Transport Defects,” in Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, 2nd ed., N. Blau, C. D. Vici, C. R. Ferreira, C. Vianey-Saban, and C. D. M. van Karnebeek, Eds. Cham: Springer Nature, 2022, pp. 291–312.
View | DOI
 
[43]
2022 |Published| Journal Article | IST-REx-ID: 11160 | OA
C. E. Villa et al., “CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories,” Cell Reports, vol. 39, no. 1. Elsevier, 2022.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[42]
2022 |Submitted| Preprint | IST-REx-ID: 11943 | OA
P. Velicky et al., “Saturated reconstruction of living brain tissue,” bioRxiv. Cold Spring Harbor Laboratory.
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[41]
2022 |Submitted| Preprint | IST-REx-ID: 11950 | OA
J. M. Michalska et al., “Uncovering brain tissue architecture across scales with super-resolution light microscopy,” bioRxiv. Cold Spring Harbor Laboratory.
[Preprint] View | Files available | DOI | Download Preprint (ext.)
 
[40]
2021 |Published| Journal Article | IST-REx-ID: 10281 | OA
V. Vasic et al., “Translating the role of mtor-and ras-associated signalopathies in autism spectrum disorder: Models, mechanisms and treatment,” Genes, vol. 12, no. 11. MDPI, 2021.
[Published Version] View | Files available | DOI | WoS
 
[39]
2021 |Published| Journal Article | IST-REx-ID: 8730 | OA
N. Tournier et al., “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,” Journal of Cerebral Blood Flow and Metabolism, vol. 41, no. 7. SAGE Publications, pp. 1634–1646, 2021.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[38]
2021 |Published| Journal Article | IST-REx-ID: 9429 | OA
J. Morandell et al., “Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development,” Nature Communications, vol. 12, no. 1. Springer Nature, 2021.
[Published Version] View | Files available | DOI | WoS
 
[37]
2020 |Published| Journal Article | IST-REx-ID: 7586 | OA
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal, vol. 39. EMBO Press, 2020.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[36]
2020 |Published| 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, vol. 43, no. 8. Elsevier, pp. 608–621, 2020.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[35]
2020 |Submitted| 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,” bioRxiv. Cold Spring Harbor Laboratory.
[Preprint] View | Files available | DOI
 
[34]
2020 |Published| 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. Elsevier, pp. 126–137, 2020.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[33]
2019 |Published| Journal Article | IST-REx-ID: 105 | OA
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. Springer Nature, pp. 161–166, 2019.
[Published Version] View | DOI | Download Published Version (ext.) | WoS | PubMed | Europe PMC
 
[32]
2019 |Published| 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. American Chemical Society, pp. 1282–1293, 2019.
View | DOI | WoS | PubMed | Europe PMC
 
[31]
2019 |Published| 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. Elsevier, 2019.
View | DOI | WoS | PubMed | Europe PMC
 
[30]
2019 |Published| 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. Elsevier, pp. S11–S12, 2019.
View | DOI | WoS
 
[29]
2019 |Published| 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. Elsevier, p. S11, 2019.
View | DOI | WoS
 
[28]
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.’” Institute of Science and Technology Austria, 2019.
[Published Version] View | Files available | DOI
 
[27]
2018 |Published| 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. American Association for the Advancement of Science, 2018.
View | DOI
 
[26]
2018 |Published| 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. Springer Nature, 2018.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[25]
2018 |Published| 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. Elsevier, pp. 131–138, 2018.
View | DOI | WoS
 
[24]
2018 |Published| 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. BMJ Publishing Group, pp. 48–54, 2018.
[Submitted Version] View | DOI | Download Submitted Version (ext.) | WoS | PubMed | Europe PMC
 
[23]
2018 |Published| 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. Nature Publishing Group, pp. 1717–1727, 2018.
[Submitted Version] View | Files available | DOI | WoS
 
[22]
2017 |Published| 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.
View | DOI
 
[21]
2017 |Published| 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.
View | DOI
 
[20]
2017 |Published| Journal Article | IST-REx-ID: 656
G. Novarino, “Modeling Alzheimer’s disease in mice with human neurons,” Science Translational Medicine, vol. 9, no. 381. American Association for the Advancement of Science, 2017.
View | DOI
 
[19]
2017 |Published| Journal Article | IST-REx-ID: 667
G. Novarino, “The antisocial side of antibiotics,” Science Translational Medicine, vol. 9, no. 387. American Association for the Advancement of Science, 2017.
View | DOI
 
[18]
2017 |Published| Journal Article | IST-REx-ID: 689
G. Novarino, “Rett syndrome modeling goes simian,” Science Translational Medicine, vol. 9, no. 393. American Association for the Advancement of Science, 2017.
View | DOI
 
[17]
2017 |Published| Journal Article | IST-REx-ID: 702
G. Novarino, “The riddle of CHD8 haploinsufficiency in autism spectrum disorder,” Science Translational Medicine, vol. 9, no. 399. American Association for the Advancement of Science, p. eaao0972, 2017.
View | DOI
 
[16]
2017 |Published| Journal Article | IST-REx-ID: 715
G. Novarino, “More excitation for Rett syndrome,” Science Translational Medicine, vol. 9, no. 405. American Association for the Advancement of Science, 2017.
View | DOI
 
[15]
2017 |Published| Journal Article | IST-REx-ID: 731
G. Novarino, “The science of love in ASD and ADHD,” Science Translational Medicine, vol. 9, no. 411. American Association for the Advancement of Science, 2017.
View | DOI
 
[14]
2017 |Published| 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. Wiley-Blackwell, pp. 45–57, 2017.
[Published Version] View | Files available | DOI | WoS | PubMed | Europe PMC
 
[13]
2016 |Published| Journal Article | IST-REx-ID: 1183 | OA
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 |Published| Journal Article | IST-REx-ID: 1789 | OA
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 |Published| Journal Article | IST-REx-ID: 1791
S. Baek et al., “Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous MicroRNA dysregulation,” Neuron, vol. 82, no. 6. Elsevier, pp. 1255–1262, 2014.
View | DOI
 
[10]
2014 |Published| Journal Article | IST-REx-ID: 1916 | OA
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 |Published| Journal Article | IST-REx-ID: 1790
G. Novarino, S. Baek, and J. Gleeson, “The sacred disease: The puzzling genetics of epileptic disorders,” Neuron, vol. 80, no. 1. Elsevier, pp. 9–11, 2013.
View | DOI
 
[8]
2012 |Published| Journal Article | IST-REx-ID: 2313
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 |Published| Journal Article | IST-REx-ID: 2314
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 |Published| Book Review | IST-REx-ID: 2312
G. Novarino, N. Akizu, and J. Gleeson, “Modeling human disease in humans: The ciliopathies,” Cell, vol. 147, no. 1. Cell Press, pp. 70–79, 2011.
View | DOI
 
[5]
2010 |Published| Book Chapter | IST-REx-ID: 2309
T. Stauber, G. Novarino, and T. Jentsch, “The CLC family of chloride channels and transporters,” in Physiology and Pathology of chloride transporters and channels in the nervous system, Elsevier, 2010, pp. 209–231.
View | DOI
 
[4]
2010 |Published| Journal Article | IST-REx-ID: 2311
G. Rickheit et al., “Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation,” Journal of Biological Chemistry, vol. 285, no. 23. American Society for Biochemistry and Molecular Biology, pp. 17595–17603, 2010.
View | DOI
 
[3]
2010 |Published| Journal Article | IST-REx-ID: 2310
G. Novarino, S. Weinert, G. Rickheit, and T. Jentsch, “Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis,” Science, vol. 328, no. 5984. American Association for the Advancement of Science, pp. 1398–1401, 2010.
View | DOI
 
[2]
2005 |Published| Journal Article | IST-REx-ID: 2307
J. Schwartz, G. Novarino, D. Piston, and L. Defelice, “Substrate binding stoichiometry and kinetics of the norepinephrine transporter,” Journal of Biological Chemistry, vol. 280, no. 19. American Society for Biochemistry and Molecular Biology, pp. 19177–19184, 2005.
View | DOI
 
[1]
2004 |Published| Journal Article | IST-REx-ID: 2308
G. Novarino et al., “Involvement of the intracellular ion channel CLIC1 in microglia-mediated β-amyloid-induced neurotoxicity,” Journal of Neuroscience, vol. 24, no. 23. Society for Neuroscience, pp. 5322–5330, 2004.
View | DOI
 
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