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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
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. Marin-Valencia I, et al. Among authors: novarino g. J Med Genet. 2018 Jan;55(1):48-54. doi: 10.1136/jmedgenet-2017-104627. Epub 2017 Jun 16. J Med Genet. 2018. PMID: 28626029 Free PMC article.
Exome sequencing can improve diagnosis and alter patient management.
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, Gleeson JG. Dixon-Salazar TJ, et al. Among authors: novarino g. Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544. Sci Transl Med. 2012. PMID: 22700954 Free PMC article.
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
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, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Novarino G, et al. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6. Science. 2012. PMID: 22956686 Free PMC article.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
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 GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din 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. Novarino G, et al. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363. Science. 2014. PMID: 24482476 Free PMC article.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
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, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. Tărlungeanu DC, et al. Among authors: novarino g. Cell. 2016 Dec 1;167(6):1481-1494.e18. doi: 10.1016/j.cell.2016.11.013. Cell. 2016. PMID: 27912058 Free PMC article.
Neurodevelopmental Disorders: From Genetics to Functional Pathways.
Parenti I, Rabaneda LG, Schoen H, Novarino G. Parenti I, et al. Among authors: novarino g. Trends Neurosci. 2020 Aug;43(8):608-621. doi: 10.1016/j.tins.2020.05.004. Epub 2020 Jun 5. Trends Neurosci. 2020. PMID: 32507511 Free article. Review.
48 results