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