Leeds, West Yorkshire, United Kingdom of Great Britain and Northern Ireland
  • 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, T. Walsh, 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, 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
  •  2
    Failure to automate the semantic processing of social cues in autism
    with T. Jellema, J. A. M. Lorteije, S. van Rijn, M. van T'Wout, and F. de Heer
    In Robert Schwartz (ed.), Perception, Blackwell. pp. 101-101. 2004.