• Differences in quantitative urine composition in stone-forming versus unaffected mate kidneys
    with M. L. Eisenberg, K. L. Lee, B. N. Breyer, B. R. Konety, and M. L. Stoller
    OBJECTIVES: Many patients present with bilateral stones. There is a unique group of patients, however, that presents with stones exclusively on one side. We hypothesize that in such situations, 24-hour urine collections may not reveal specific defects on the affected stone-bearing kidney. We therefore evaluated selective 12-hour urine collections after percutaneous nephrolithotomy to help determine if there is differential renal excretion. METHODS: We collected urine specimens from patients with…Read more
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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, 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, Y. H. Lee, 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