Selected publications

  1. Morandell J, Schwarz LA, Basilico B, Tasciyan A, Nicolas A, Sommer C, Kreuzinger C, Dotter CP, Knaus LS, Dobler Z, Cacci E, Danzl JG, Novarino G*. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. bioRxiv01.10.902064; doi: https://doi.org/10.1101/2020.01.10.902064
  2. Deliu E, Arecco N, Morandell J, Dotter CP, Contreras X, Girardot C, Kaesper E, Kozlova A, Kishi K, Chiaradia I, Noh K*, Novarino G*. Haploinsufficiency of intellectual disability-gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience, 2018 Dec;21(12):1717-1727.
  3. 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. J Med Genet. 2018 Jan;55(1):48-54
  4. Tarlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch C, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan AO, Gunel M, Gleeson JG, Novarino G*. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorders. Cell 2016 Dec 1; 67(6):1481-1494.
  5. 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, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM#, Novarino G#, Engels H#*. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2015 Jun; 23(6):753-60.
  6. 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 2014 June, 18; 82(6):1255-62
  7. 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, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG*. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014 Jan 31;343(6170):506-11.
  8. Novarino G*, El-Fishawy P, Kayserili H, Meguid NA. , Scott ES., Schroth J, Silhavy JL., Kara M, Khalil RO., Ben-Omran T, Ercan-Sencicek A.G, Hashish AF.,Sanders SJ., Gupta AR., Hashem HS., Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA., State MW and Gleeson JG.* Mutations in the BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012 Oct 19;338(6105):394-397.
  9. 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, Al-Saana NA., Sonmez FM., Celep F, Azam M, Hill KJ., Collazo A, Fenstermaker AG., Novarino G, Akizu N, Garimella KV., Sougnez C, Russ C, Gabriel SB. and Gleeson JG*. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine 2012 June 13; 138(4).
  10. Novarino G, Weinert S, Rickheit G & Jentsch TJ*. Endosomal chloride-proton exchange rather than chloride conductance is crucial for renal endocytosis. Science 2010 Jun 11;328(5984):1398-401.

For full list go here

Book chapters, reviews, previews and editorials

  1. Oliveira B, Çerağ Yahya A, Novarino G. Modeling cell-cell interactions in the brain using cerebral organoids. Brain Res. 2019 Dec 1;1724:146458
  2. Tarlungeanu D and Novarino G. Genomics in neurodevelopmental disorders: an avenue to personalized medicine. Experimental and Molecular Medicine, 2018 Aug 7;50(8):100
  3. Sacco R, Cacci E, Novarino G*. Neural stem cells in neuropsychiatric disorders. Opin Neurobiol. 2017 Dec 26;48:131-138
  4. Novarino G Zika-associated microcephaly: reduce the stress and race for the treatment Science Translational Medicine 2017
  5. Novarino G The vicious epigenetic cycle of neuronal activation Science Translational Medicine 2017
  6. Novarino G The riddle of CHD8 haploinsufficiency in autism spectrum disorder Science Translational Medicine 2017
  7. Novarino G More excitation for Rett syndrome Science Translational Medicine 2017
  8. Novarino G Rett syndrome modeling goes simian Science Translational Medicine 2017
  9. Novarino G. The antisocial side of antibiotics Science Translational Medicine 2017
  10. Novarino G The Science of Love in ASD and ADHD Science Translational Medicine 2017
  11. Modeling Alzheimer’s disease in mice with human neurons. Science Translational Medicine 2017
  12. Schroeder JC, Deliu E, Novarino G*, Schmeisser MJ*. Genetic and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum Disorder. Adv Anat Embryol Cell Biol. 2017;224:189-211
  13. Hill-Yardin EL, McKeown SJ, Novarino G, Grabrucker AM*. Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder. Adv Anat Embryol Cell Biol. 2017;224:159-187
  14. 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. Eur J Neurosci. 2016 Sep 30
  15. Novarino G, Baek ST, Gleeson JG*. The sacred disease: the puzzling genetics of epileptic disorders. Neuron 2013 Oct 2;80(1):9-11
  16. Novarino G, Akizu N, Gleeson JG*. Modeling human disease in humans: the ciliopathies. Cell 2011 Sep 30;147(1):70-9.
  17. Stauber T, Novarino G and Jentsch TJ*. Physiology and Pathology of Chloride Transporters and Channels in the Nervous System: From Molecules to diseases. Chapter 4: The ClC family of chloride channels and transporters. Elsevier Academic Press

Citation list: https://scholar.google.com/citations?user=S7ZK_zYAAAAJ&hl=en