@article{660e4d776cbe4e06ba909eb2e03e2989,
title = "A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation",
abstract = "Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence.",
author = "Tarpey, {Patrick S.} and Raffaella Smith and Erin Pleasance and Annabel Whibley and Sarah Edkins and Claire Hardy and Sarah O'Meara and Calli Latimer and Ed Dicks and Andrew Menzies and Phil Stephens and Matt Blow and Chris Greenman and Yali Xue and Chris Tyler-Smith and Deborah Thompson and Kristian Gray and Jenny Andrews and Syd Barthorpe and Gemma Buck and Jennifer Cole and Rebecca Dunmore and David Jones and Mark Maddison and Tatiana Mironenko and Rachel Turner and Kelly Turrell and Jennifer Varian and Sofie West and Sara Widaa and Paul Wray and Jon Teague and Adam Butler and Andrew Jenkinson and Mingming Jia and David Richardson and Rebecca Shepherd and Richard Wooster and Tejada, {M. Isabel} and Francisco Martinez and Gemma Carvill and Rene Goliath and {De Brouwer}, {Arjan P.M.} and {Van Bokhoven}, Hans and {Van Esch}, Hilde and Jamel Chelly and Martine Raynaud and Ropers, {Hans Hilger} and Abidi, {Fatima E.} and Srivastava, {Anand K.} and James Cox and Ying Luo and Uma Mallya and Jenny Moon and Josef Parnau and Shehla Mohammed and Tolmie, {John L.} and Cheryl Shoubridge and Mark Corbett and Alison Gardner and Eric Haan and Sinitdhorn Rujirabanjerd and Marie Shaw and Lucianne Vandeleur and Tod Fullston and Easton, {Douglas F.} and Jackie Boyle and Michael Partington and Anna Hackett and Michael Field and Cindy Skinner and Stevenson, {Roger E.} and Martin Bobrow and Gillian Turner and Schwartz, {Charles E.} and Jozef Gecz and Raymond, {F. Lucy} and Futreal, {P. Andrew} and Stratton, {Michael R.}",
note = "Funding Information: We would like to express our gratitude to the many families with members with mental retardation or learning disability who agreed to participate in these studies performed by the IGOLD consortium. We would also like to thank many clinicians and researchers, including J.T. den Dunnen, L. Holloway, M. May, B. Kerr, J. Erikson, R. Smith, E. Fraser, P. Hodgins, I. Wilkinson, A.J. Gardener, D. Amor, D. Anderson, M. Edwards, V.J. Ajith, A. Barnicoat, P. Beales, K. Becker, A. Brady, C. Brewer, J. Christodoulou, J. Clayton-Smith, T. Cole, A. Collins, J. Cook, J. Craig, S. Davies, H. Dawkins, M. Delatycki, D. Donnai, M. Edwards, F. Essop, D. Fitzpatrick, F. Flinter, B. Franco, A. Fryer, T. Homfray, S. Garcia, C. Gardiner, R. Gardner, C. Garrett, R. Gibbons, A. Green, P. Guilbert, D. Halliday, B. Hamel, P. Harper, E. Hobson, S. Holder, E. Holinski-Feder, H. Hughes, J. Hurst, F. Kavalier, B. Kerr, U. Kini, T. Kleefstra, F. Kooy, K. Lachlan, W. Lam, M. Lees, S. Lindsay, C. Longman, S. Lynch, S. Mansour, C. Mercel, J. McGaughran, V. Murday, J. Nelson, G. Neri, R. Newbury-Ecob, C. Owens, M. Patton, M. Porteous, S. Price, A. Proctor, O. Quarrell, N. Rahman, W. Reardon, E. Rosser, F. Stewart, H. Stewart, S. Tompkins, D. Trump, B. de Vries, T. Webb, D. Wellesley, D. Williams, L. Wilson, R. Winter, N. Wood, and J. Yates, who referred families for research, and N. Rahman for comments on the manuscript. The work was supported by the European Community{\textquoteright}s Seventh Framework Programme-the GEN2PHEN Project, the New South Wales Department of Health, the Australian NHMRC, the SMILE foundation, the WCH Foundation, D. Harwood, EU grant QLG3-CT-2002-01810 (EURO-MRX), US National Institutes of Health (HD26202) to C.E.S., the South Carolina Department of Disabilities and Special Needs (SCDDSN), Action Medical Research and the Wellcome Trust.",
year = "2009",
month = may,
doi = "10.1038/ng.367",
language = "English (US)",
volume = "41",
pages = "535--543",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "5",
}