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Gaia Novarino - Publications

Affiliations: 
IST Austria, Klosterneuburg, Niederösterreich, Austria 
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25 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Villa CE, Cheroni C, Dotter CP, López-Tóbon A, Oliveira B, Sacco R, Yahya AÇ, Morandell J, Gabriele M, Tavakoli MR, Lyudchik J, Sommer C, Gabitto M, Danzl JG, Testa G, ... Novarino G, et al. CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. Cell Reports. 39: 110615. PMID 35385734 DOI: 10.1016/j.celrep.2022.110615  0.367
2021 Vasic V, Jones MSO, Haslinger D, Knaus LS, Schmeisser MJ, Novarino G, Chiocchetti AG. Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment. Genes. 12. PMID 34828352 DOI: 10.3390/genes12111746  0.307
2020 Basilico B, Morandell J, Novarino G. Molecular mechanisms for targeted ASD treatments. Current Opinion in Genetics & Development. 65: 126-137. PMID 32659636 DOI: 10.1016/J.Gde.2020.06.004  0.375
2020 Parenti I, Rabaneda LG, Schoen H, Novarino G. Neurodevelopmental Disorders: From Genetics to Functional Pathways. Trends in Neurosciences. PMID 32507511 DOI: 10.1016/J.Tins.2020.05.004  0.456
2019 Knaus L, Tarlungeanu D, Novarino G. S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly European Neuropsychopharmacology. 29: S11. DOI: 10.1016/J.Euroneuro.2019.01.022  0.411
2018 Deliu E, Arecco N, Morandell J, Dotter CP, Contreras X, Girardot C, Käsper EL, Kozlova A, Kishi K, Chiaradia I, Noh KM, Novarino G. Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience. PMID 30455454 DOI: 10.1038/S41593-018-0266-2  0.385
2018 Tărlungeanu DC, Novarino G. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental & Molecular Medicine. 50: 100. PMID 30089840 DOI: 10.1038/S12276-018-0129-7  0.422
2017 Sacco R, Cacci E, Novarino G. Neural stem cells in neuropsychiatric disorders. Current Opinion in Neurobiology. 48: 131-138. PMID 29287246 DOI: 10.1016/J.Conb.2017.12.005  0.317
2017 Marin-Valencia I, Novarino G, Johansen A, Rosti B, Issa MY, Musaev D, Bhat G, Scott E, Silhavy JL, Stanley V, Rosti RO, Gleeson JW, Imam FB, Zaki MS, Gleeson JG. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Journal of Medical Genetics. PMID 28626029 DOI: 10.1136/Jmedgenet-2017-104627  0.706
2017 Novarino G. Rett syndrome modeling goes simian. Science Translational Medicine. 9. PMID 28592569 DOI: 10.1126/Scitranslmed.Aan8196  0.313
2017 Schroeder JC, Deliu E, Novarino G, Schmeisser MJ. Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder. Advances in Anatomy, Embryology, and Cell Biology. 224: 189-211. PMID 28551757 DOI: 10.1007/978-3-319-52498-6_10  0.403
2017 Hill-Yardin EL, McKeown SJ, Novarino G, Grabrucker AM. Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder. Advances in Anatomy, Embryology, and Cell Biology. 224: 159-187. PMID 28551756 DOI: 10.1007/978-3-319-52498-6_9  0.41
2017 Novarino G. Modeling Alzheimer's disease in mice with human neurons. Science Translational Medicine. 9. PMID 28298426 DOI: 10.1126/Scitranslmed.Aam9867  0.323
2017 Sauerzopf U, Sacco R, Novarino G, Niello M, Weidenauer A, Praschak-Rieder N, Sitte H, Willeit M. Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic disorders? A review of the current evidence. The European Journal of Neuroscience. 45: 45-57. PMID 27690184 DOI: 10.1111/Ejn.13418  0.359
2017 Novarino G. The science of love in ASD and ADHD Science Translational Medicine. 9: eaap8168. DOI: 10.1126/Scitranslmed.Aap8168  0.304
2017 Novarino G. The riddle of CHD8 haploinsufficiency in autism spectrum disorder Science Translational Medicine. 9: eaao0972. DOI: 10.1126/Scitranslmed.Aao0972  0.325
2016 Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, ... ... Novarino G, et al. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell. 167: 1481-1494.e18. PMID 27912058 DOI: 10.1016/J.Cell.2016.11.013  0.564
2015 Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, ... ... Novarino G, et al. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics : Ejhg. 23: 753-60. PMID 25138099 DOI: 10.1038/Ejhg.2014.165  0.428
2014 Baek ST, Kerjan G, Bielas SL, Lee JE, Fenstermaker AG, Novarino G, Gleeson JG. Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation. Neuron. 82: 1255-62. PMID 24945770 DOI: 10.1016/J.Neuron.2014.04.036  0.659
2014 Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GM, Karminejad A, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science (New York, N.Y.). 343: 506-11. PMID 24482476 DOI: 10.1126/Science.1247363  0.728
2013 Novarino G, Baek ST, Gleeson JG. The sacred disease: the puzzling genetics of epileptic disorders. Neuron. 80: 9-11. PMID 24094099 DOI: 10.1016/J.Neuron.2013.09.019  0.585
2012 Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.). 338: 394-7. PMID 22956686 DOI: 10.1126/Science.1224631  0.572
2012 Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, ... ... Novarino G, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4: 138ra78. PMID 22700954 DOI: 10.1126/scitranslmed.3003544  0.63
2011 Novarino G, Akizu N, Gleeson JG. Modeling human disease in humans: the ciliopathies. Cell. 147: 70-9. PMID 21962508 DOI: 10.1016/J.Cell.2011.09.014  0.703
2010 Rickheit G, Wartosch L, Schaffer S, Stobrawa SM, Novarino G, Weinert S, Jentsch TJ. Role of ClC-5 in renal endocytosis is unique among ClC exchangers and does not require PY-motif-dependent ubiquitylation. The Journal of Biological Chemistry. 285: 17595-603. PMID 20351103 DOI: 10.1074/Jbc.M110.115600  0.323
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