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Page 1
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: krause v. 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.
High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
Malhotra D, McCarthy S, Michaelson JJ, Vacic V, Burdick KE, Yoon S, Cichon S, Corvin A, Gary S, Gershon ES, Gill M, Karayiorgou M, Kelsoe JR, Krastoshevsky O, Krause V, Leibenluft E, Levy DL, Makarov V, Bhandari A, Malhotra AK, McMahon FJ, Nöthen MM, Potash JB, Rietschel M, Schulze TG, Sebat J. Malhotra D, et al. Among authors: krause v. Neuron. 2011 Dec 22;72(6):951-63. doi: 10.1016/j.neuron.2011.11.007. Neuron. 2011. PMID: 22196331 Free PMC article.
De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents.
Hassoun R, Budde H, Mannherz HG, Lódi M, Fujita-Becker S, Laser KT, Gärtner A, Klingel K, Möhner D, Stehle R, Sultana I, Schaaf T, Majchrzak M, Krause V, Herrmann C, Nowaczyk MM, Mügge A, Pfitzer G, Schröder RR, Hamdani N, Milting H, Jaquet K, Cimiotti D. Hassoun R, et al. Among authors: krause v. Int J Mol Sci. 2021 Sep 6;22(17):9625. doi: 10.3390/ijms22179625. Int J Mol Sci. 2021. PMID: 34502534 Free PMC article.
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.
Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Larach-Walters V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Dell Aquila M, Morris DW, Gill M, Corvin A, Insel PA, McClellan J, King MC, Karayiorgou M, Levy DL, DeLisi LE, Sebat J. Vacic V, et al. Among authors: krause v. Nature. 2011 Mar 24;471(7339):499-503. doi: 10.1038/nature09884. Epub 2011 Feb 23. Nature. 2011. PMID: 21346763 Free PMC article.