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    Microduplications of 16p11.2 are associated with schizophrenia
    with S. E. McCarthy, V. Makarov, G. Kirov, A. M. Addington, J. McClellan, S. Yoon, D. O. Perkins, M. de DickelKusenda, O. Krastoshevsky, V. Krause, R. A. Kumar, D. Grozeva, D. Malhotra, T. Walsh, E. H. Zackai, P. Kaplan, J. Ganesh, I. D. Krantz, N. B. Spinner, P. Roccanova, A. Bhandari, K. Pavon, B. Lakshmi, A. Leotta, J. Kendall, V. Vacic, Gary S., L. M. Iakoucheva, T. J. Crow, S. L. Christian, J. A. Lieberman, T. S. Stroup, T. Lehtimäki, K. Puura, C. Haldeman-Englert, Pearl J., M. Goodell, V. L. Willour, P. Derosse, J. Steele, L. Kassem, J. Wolff, N. Chitkara, F. J. McMahon, A. K. Malhotra, J. B. Potash, T. G. Schulze, M. M. Nöthen, S. Cichon, M. Rietschel, E. Leibenluft, V. Kustanovich, C. M. Lajonchere, J. S. Sutcliffe, D. Skuse, M. Gill, L. Gallagher, N. R. Mendell, N. Craddock, M. J. Owen, M. C. O'Donovan, T. H. Shaikh, E. Susser, P. F. le DelisiSullivan, C. K. Deutsch, J. Rapoport, D. L. Levy, M. C. King, and J. Sebat
    Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 cases and 1/3,971 controls from the initial cohort, and in 9/2,645 cases and 1/2,420 controls of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk …Read more