• 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
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    with S. Girirajan, J. A. Rosenfeld, G. M. Cooper, F. Antonacci, P. Siswara, A. Itsara, L. Vives, S. E. McCarthy, C. Baker, H. C. Mefford, J. M. Kidd, S. R. Browning, B. L. Browning, D. L. de DickelLevy, B. C. Ballif, K. Platky, D. M. Farber, G. C. Gowans, J. J. Wetherbee, A. Asamoah, D. D. Weaver, Mark P. R., J. Dickerson, B. P. Garg, S. A. Ellingwood, R. Smith, V. C. Banks, W. Smith, M. T. McDonald, J. J. Hoo, B. N. French, C. Hudson, J. P. Johnson, Ozmore Jr, J. B. Moeschler, U. Surti, L. F. Escobar, D. El-Khechen, J. L. Gorski, J. Kussmann, B. Salbert, Y. Lacassie, A. Biser, D. M. McDonald-Mcginn, E. H. Zackai, M. A. Deardorff, T. H. Shaikh, E. Haan, K. L. Friend, M. Fichera, C. Romano, J. Gécz, J. le DelisiSebat, M. C. King, L. G. Shaffer, and E. E. Eichler
    We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number var…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