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Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells.
Lee IS, Carvalho CM, Douvaras P, Ho SM, Hartley BJ, Zuccherato LW, Ladran IG, Siegel AJ, McCarthy S, Malhotra D, Sebat J, Rapoport J, Fossati V, Lupski JR, Levy DL, Brennand KJ. Lee IS, et al. Among authors: rapoport j. NPJ Schizophr. 2015 Jun 24;1:15019-. doi: 10.1038/npjschz.2015.19. NPJ Schizophr. 2015. PMID: 26985448 Free PMC article.
Dysregulation of miRNA-9 in a Subset of Schizophrenia Patient-Derived Neural Progenitor Cells.
Topol A, Zhu S, Hartley BJ, English J, Hauberg ME, Tran N, Rittenhouse CA, Simone A, Ruderfer DM, Johnson J, Readhead B, Hadas Y, Gochman PA, Wang YC, Shah H, Cagney G, Rapoport J, Gage FH, Dudley JT, Sklar P, Mattheisen M, Cotter D, Fang G, Brennand KJ. Topol A, et al. Among authors: rapoport j. Cell Rep. 2016 May 3;15(5):1024-1036. doi: 10.1016/j.celrep.2016.03.090. Epub 2016 Apr 21. Cell Rep. 2016. PMID: 27117414 Free PMC article.
Increased abundance of translation machinery in stem cell-derived neural progenitor cells from four schizophrenia patients.
Topol A, English JA, Flaherty E, Rajarajan P, Hartley BJ, Gupta S, Desland F, Zhu S, Goff T, Friedman L, Rapoport J, Felsenfeld D, Cagney G, Mackay-Sim A, Savas JN, Aronow B, Fang G, Zhang B, Cotter D, Brennand KJ. Topol A, et al. Among authors: rapoport j. Transl Psychiatry. 2015 Oct 20;5(10):e662. doi: 10.1038/tp.2015.118. Transl Psychiatry. 2015. PMID: 26485546 Free PMC article.
Inhibition of STEP61 ameliorates deficits in mouse and hiPSC-based schizophrenia models.
Xu J, Hartley BJ, Kurup P, Phillips A, Topol A, Xu M, Ononenyi C, Foscue E, Ho SM, Baguley TD, Carty N, Barros CS, Müller U, Gupta S, Gochman P, Rapoport J, Ellman JA, Pittenger C, Aronow B, Nairn AC, Nestor MW, Lombroso PJ, Brennand KJ. Xu J, et al. Among authors: rapoport j. Mol Psychiatry. 2018 Feb;23(2):271-281. doi: 10.1038/mp.2016.163. Epub 2016 Oct 18. Mol Psychiatry. 2018. PMID: 27752082 Free PMC article.
Neuronal impact of patient-specific aberrant NRXN1α splicing.
Flaherty E, Zhu S, Barretto N, Cheng E, Deans PJM, Fernando MB, Schrode N, Francoeur N, Antoine A, Alganem K, Halpern M, Deikus G, Shah H, Fitzgerald M, Ladran I, Gochman P, Rapoport J, Tsankova NM, McCullumsmith R, Hoffman GE, Sebra R, Fang G, Brennand KJ. Flaherty E, et al. Among authors: rapoport j. Nat Genet. 2019 Dec;51(12):1679-1690. doi: 10.1038/s41588-019-0539-z. Epub 2019 Nov 29. Nat Genet. 2019. PMID: 31784728 Free PMC article.
Dysregulation of miRNA-9 in a Subset of Schizophrenia Patient-Derived Neural Progenitor Cells.
Topol A, Zhu S, Hartley BJ, English J, Hauberg ME, Tran N, Rittenhouse CA, Simone A, Ruderfer DM, Johnson J, Readhead B, Hadas Y, Gochman PA, Wang YC, Shah H, Cagney G, Rapoport J, Gage FH, Dudley JT, Sklar P, Mattheisen M, Cotter D, Fang G, Brennand KJ. Topol A, et al. Among authors: rapoport j. Cell Rep. 2017 Sep 5;20(10):2525. doi: 10.1016/j.celrep.2017.08.073. Cell Rep. 2017. PMID: 28877483 Free PMC article. No abstract available.
Microduplications of 16p11.2 are associated with schizophrenia.
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR; Wellcome Trust Case Control Consortium; Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J. McCarthy SE, et al. Among authors: rapoport j. Nat Genet. 2009 Nov;41(11):1223-7. doi: 10.1038/ng.474. Epub 2009 Oct 25. Nat Genet. 2009. PMID: 19855392 Free PMC article.
DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. Dumas LJ, et al. Among authors: rapoport j. Am J Hum Genet. 2012 Sep 7;91(3):444-54. doi: 10.1016/j.ajhg.2012.07.016. Epub 2012 Aug 16. Am J Hum Genet. 2012. PMID: 22901949 Free PMC article.
570 results