Tournier N, Goutal S, Mairinger S, Lozano I, Filip T, Sauberer M, Caillé F, Breuil L, Stanek J, Freeman A, Novarino G, Truillet C, Wanek T, Langer O. 2021. Complete inhibition of ABC and ABC at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABC/ABC substrate [11C]erlotinib. Journal of Cerebral Blood Flow and Metabolism. 41(7), 1634–1646.
LibreCat: https://research-explorer.ista.ac.at/record/8730
DOI: 10.1177/0271678X20965500
WoS: 000664214100012
PMID: 33081568

Cordella F, Sanchini C, Rosito M, Ferrucci L, Pediconi N, Cortese B, Guerrieri F, Pascucci GR, Antonangeli F, Peruzzi G, Giubettini M, Basilico B, Pagani F, Grimaldi A, D’Alessandro G, Limatola C, Ragozzino D, Di Angelantonio S. 2021. Antibiotics treatment modulates microglia–synapses interaction. Cells. 10(10), 2648.
LibreCat: https://research-explorer.ista.ac.at/record/15278
DOI: 10.3390/cells10102648
PMID: 34685628

Morandell J, Schwarz LA, Basilico B, Tasciyan S, Dimchev GA, Nicolas A, Sommer CM, Kreuzinger C, Dotter C, Knaus L, Dobler Z, Cacci E, Schur FK, Danzl JG, Novarino G. 2021. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. Nature Communications. 12(1), 3058.
LibreCat: https://research-explorer.ista.ac.at/record/9429
DOI: 10.1038/s41467-021-23123-x
WoS: 000658769900010

Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, Kaiser FJ, Selicorni A, Gervasini C, Massa V. 2020. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 97(1), 3–11.
LibreCat: https://research-explorer.ista.ac.at/record/7149
DOI: 10.1111/cge.13674
WoS: 000562561800001
PMID: 31721174

Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J. 2020. Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences. 21(3), 1042.
LibreCat: https://research-explorer.ista.ac.at/record/7488
DOI: 10.3390/ijms21031042
WoS: 000522551606028

Weinert S, Gimber N, Deuschel D, Stuhlmann T, Puchkov D, Farsi Z, Ludwig CF, Novarino G, López-Cayuqueo KI, Planells-Cases R, Jentsch TJ. 2020. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal. 39, e103358.
LibreCat: https://research-explorer.ista.ac.at/record/7586
DOI: 10.15252/embj.2019103358
WoS: 000517335000001
PMID: 32118314

Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, Van Staveren T, Van Ijcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. 2020. MA and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 31(7), 107647.
LibreCat: https://research-explorer.ista.ac.at/record/7877
DOI: 10.1016/j.celrep.2020.107647
WoS: 000535655200005

Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. 2020. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 43(8), 608–621.
LibreCat: https://research-explorer.ista.ac.at/record/7957
DOI: 10.1016/j.tins.2020.05.004
WoS: 000553090600008
PMID: 32507511

Morandell J. 2020. Illuminating the role of Cul3 in autism spectrum disorder pathogenesis. Institute of Science and Technology Austria.
LibreCat: https://research-explorer.ista.ac.at/record/8620
DOI: 10.15479/AT:ISTA:8620

Morandell J, Schwarz LA, Basilico B, Tasciyan S, Nicolas A, Sommer CM, Kreuzinger C, Knaus L, Dobler Z, Cacci E, Danzl JG, Novarino G. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. bioRxiv,10.1101/2020.01.10.902064  .
LibreCat: https://research-explorer.ista.ac.at/record/7800
DOI: 10.1101/2020.01.10.902064 

Basilico B, Morandell J, Novarino G. 2020. Molecular mechanisms for targeted ASD treatments. Current Opinion in Genetics and Development. 65(12), 126–137.
LibreCat: https://research-explorer.ista.ac.at/record/8131
DOI: 10.1016/j.gde.2020.06.004
WoS: 000598918900019
PMID: 32659636

Marsh A, Novarino G, Lockhart P, Leventer R. 2019. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics. 27, 161–166.
LibreCat: https://research-explorer.ista.ac.at/record/105
DOI: 10.1038/s41431-018-0231-2
WoS: 000454111500019
PMID: 30089829

Traxl A, Mairinger S, Filip T, Sauberer M, Stanek J, Poschner S, Jäger W, Zoufal V, Novarino G, Tournier N, Bauer M, Wanek T, Langer O. 2019. Inhibition of ABC and ABC at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABC/ABC substrate [11C]erlotinib. Molecular Pharmaceutics. 16(3), 1282–1293.
LibreCat: https://research-explorer.ista.ac.at/record/6088
DOI: 10.1021/acs.molpharmaceut.8b01217
WoS: 000460600400031
PMID: 30694684

Éltes T, Szoboszlay M, Szigeti MK, Nusser Z. 2019. Improved spike inference accuracy by estimating the peak amplitude of unitary [C+] transients in weakly GCaMf-expressing hippocampal pyramidal cells. Journal of Physiology. 597(11), 2925–2947.
LibreCat: https://research-explorer.ista.ac.at/record/6470
DOI: 10.1113/JP277681
WoS: 000470780400013
PMID: 31006863

Oliveira B, Yahya AÇ, Novarino G. 2019. Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research. 1724, 146458.
LibreCat: https://research-explorer.ista.ac.at/record/6896
DOI: 10.1016/j.brainres.2019.146458
WoS: 000491646600033
PMID: 31521639

Morandell J, Nicolas A, Schwarz LA, Novarino G. 2019. S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology. 29(Supplement 6), –.
LibreCat: https://research-explorer.ista.ac.at/record/7415
DOI: 10.1016/j.euroneuro.2019.09.040
WoS: 000502657500021

Knaus L, Tarlungeanu D-C, Novarino G. 2019. S.16.03 A homozygous missense mutation in SL leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology. 29(Supplement 6), .
LibreCat: https://research-explorer.ista.ac.at/record/7414
DOI: 10.1016/j.euroneuro.2019.09.039
WoS: 000502657500020

Dotter C, Novarino G. 2019. Supplementary data for the research paper ‘Haploinsufficiency of the intellectual disability gene SET disturbs developmental gene expression and cognition’, Institute of Science and Technology Austria,10.15479/AT:ISTA:6074 .
LibreCat: https://research-explorer.ista.ac.at/record/6074
DOI: 10.15479/AT:ISTA:6074

Novarino G. 2018. Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine. 10(423), eaar7514.
LibreCat: https://research-explorer.ista.ac.at/record/456
DOI: 10.1126/scitranslmed.aar7514

Tarlungeanu D-C, Novarino G. 2018. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental &; Molecular Medicine. 50(8), 100.
LibreCat: https://research-explorer.ista.ac.at/record/5888
DOI: 10.1038/s12276-018-0129-7
WoS: 000441266700006
PMID: 30089840

Sacco R, Cacci E, Novarino G. 2018. Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology. 48(2), 131–138.
LibreCat: https://research-explorer.ista.ac.at/record/546
DOI: 10.1016/j.conb.2017.12.005
WoS: 000427101600018

Marin Valencia I, Novarino G, Johansen A, Rosti B, Issa M, Musaev D, Bhat G, Scott E, Silhavy J, Stanley V, Rosti R, Gleeson J, Imam F, Zaki M, Gleeson J. 2018. A homozygous founder mutation in TRAPPB associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics. 55(1), 48–54.
LibreCat: https://research-explorer.ista.ac.at/record/691
DOI: 10.1136/jmedgenet-2017-104627
WoS: 000418199800007
PMID: 28626029

Tarlungeanu D-C. 2018. The branched chain amino acids in autism spectrum disorders . Institute of Science and Technology Austria.
LibreCat: https://research-explorer.ista.ac.at/record/395
DOI: 10.15479/AT:ISTA:th_992

Deliu E, Arecco N, Morandell J, Dotter C, Contreras X, Girardot C, Käsper E, Kozlova A, Kishi K, Chiaradia I, Noh K, Novarino G. 2018. Haploinsufficiency of the intellectual disability gene SET disturbs developmental gene expression and cognition. Nature Neuroscience. 21(12), 1717–1727.
LibreCat: https://research-explorer.ista.ac.at/record/3
DOI: 10.1038/s41593-018-0266-2
WoS: 000451324700010

Khamina K, Lercher A, Caldera M, Schliehe C, Vilagos B, Sahin M, Kosack L, Bhattacharya A, Májek P, Stukalov A, Sacco R, James L, Pinschewer D, Bennett K, Menche J, Bergthaler A. 2017. Characterization of host proteins interacting with the lymphocytic choriomeningitis virus L protein. PLoS Pathogens. 13(12), e1006758.
LibreCat: https://research-explorer.ista.ac.at/record/540
DOI: 10.1371/journal.ppat.1006758

Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. 2017.Extracerebral dysfunction in animal models of autism spectrum disorder. In: Translational Anatomy and Cell Biology of Autism Spectrum Disorder. ADVSANAT, vol. 224, 159–187.
LibreCat: https://research-explorer.ista.ac.at/record/623
DOI: 10.1007/978-3-319-52498-6_9

Schroeder J, Deliu E, Novarino G, Schmeisser M. 2017.Genetic and pharmacological reversibility of phenotypes in mouse models of autism spectrum disorder. In: Translational Anatomy and Cell Biology of Autism Spectrum Disorder. ADVSANAT, vol. 224, 189–211.
LibreCat: https://research-explorer.ista.ac.at/record/634
DOI: 10.1007/978-3-319-52498-6_10

Novarino G. 2017. Modeling Alzheimer’s disease in mice with human neurons. Science Translational Medicine. 9(381), eaam9867.
LibreCat: https://research-explorer.ista.ac.at/record/656
DOI: 10.1126/scitranslmed.aam9867

Novarino G. 2017. The antisocial side of antibiotics. Science Translational Medicine. 9(387), 2786.
LibreCat: https://research-explorer.ista.ac.at/record/667
DOI: 10.1126/scitranslmed.aan2786

Novarino G. 2017. Rett syndrome modeling goes simian. Science Translational Medicine. 9(393), eaan8196.
LibreCat: https://research-explorer.ista.ac.at/record/689
DOI: 10.1126/scitranslmed.aan8196

Novarino G. 2017. The riddle of CH haploinsufficiency in autism spectrum disorder. Science Translational Medicine. 9(399), eaao0972.
LibreCat: https://research-explorer.ista.ac.at/record/702
DOI: 10.1126/scitranslmed.aao0972

Andergassen D, Dotter C, Wenzel D, Sigl V, Bammer P, Muckenhuber M, Mayer D, Kulinski T, Theussl H, Penninger J, Bock C, Barlow D, Pauler F, Hudson Q. 2017. Mapping the mouse Allelome reveals tissue specific regulation of allelic expression. eLife. 6, e25125.
LibreCat: https://research-explorer.ista.ac.at/record/713
DOI: 10.7554/eLife.25125

Brailoiu G, Deliu E, Barr J, Console Bram L, Ciuciu A, Abood M, Unterwald E, Breiloiu E. 2017. HIV Tat excites  receptor-like expressing neurons from rat nucleus accumbens. Drug and Alcohol Dependence. 178, 7–14.
LibreCat: https://research-explorer.ista.ac.at/record/714
DOI: 10.1016/j.drugalcdep.2017.04.015
PMID: 28623807

Novarino G. 2017. More excitation for Rett syndrome. Science Translational Medicine. 9(405), aao4218.
LibreCat: https://research-explorer.ista.ac.at/record/715
DOI: 10.1126/scitranslmed.aao4218

Novarino G. 2017. The science of love in ASD and ADHD. Science Translational Medicine. 9(411), ea.
LibreCat: https://research-explorer.ista.ac.at/record/731
DOI: 10.1126/scitranslmed.aap8168

Sauerzopf U, Sacco R, Novarino G, Niello M, Weidenauer A, Praschak Rieder N, Sitte H, Willeit M. 2017. Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence. European Journal of Neuroscience. 45(1), 45–57.
LibreCat: https://research-explorer.ista.ac.at/record/1228
DOI: 10.1111/ejn.13418
WoS: 000392487100005
PMID: 27690184

Breiloiu E, Mcguire M, Shuler S, Deliu E, Barr J, Abood M, Brailoiu G. 2017. Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus. Neuroscience. 365, 23–32.
LibreCat: https://research-explorer.ista.ac.at/record/747
DOI: 10.1016/j.neuroscience.2017.09.034
WoS: 000415966200003
PMID: 28951324

Kornienko A, Dotter C, Guenzl P, Gisslinger H, Gisslinger B, Cleary C, Kralovics R, Pauler F, Barlow D. 2016. Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans. Genome Biology. 17(1), 14.
LibreCat: https://research-explorer.ista.ac.at/record/1240
DOI: 10.1186/s13059-016-0873-8

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.
LibreCat: https://research-explorer.ista.ac.at/record/1183
DOI: 10.1016/j.cell.2016.11.013

Andergassen D, Dotter C, Kulinski T, Guenzl P, Bammer P, Barlow D, Pauler F, Hudson Q. 2015. Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data. Nucleic Acids Research. 43(21), e146.
LibreCat: https://research-explorer.ista.ac.at/record/1497
DOI: 10.1093/nar/gkv727

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 SET cause intellectual disability and the core phenotype of microdeletion 3.3 syndrome. European Journal of Human Genetics. 23(6), 753–760.
LibreCat: https://research-explorer.ista.ac.at/record/1789
DOI: 10.1038/ejhg.2014.165
PMID: 25138099

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.
LibreCat: https://research-explorer.ista.ac.at/record/1916
DOI: 10.1126/science.1247363
PMID: 24482476