A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

@article{Tarpey2009ASL,
  title={A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation},
  author={Patrick S. Tarpey and Raffaella Smith and Erin Pleasance and Annabel Whibley and Sarah J 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 V. 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 W. Wray and Jon Teague and Adam P. Butler and Andrew Jenkinson and Mingming Jia and David G. Richardson and Rebecca Shepherd and Richard Wooster and Mar{\'i}a Isabel Tejada and Francisco Mart{\'i}nez and Gemma L Carvill and Ren{\'e} Goliath and Arjan P. M. de Brouwer and Hans van Bokhoven and Hilde van Esch and Jamel Chelly and Martine Raynaud and H. -H. Ropers and Fatima E Abidi and Anand K. Srivastava and James Cox and Ying Luo and Uma Mallya and Jenny Moon and Josef Parnau and Shehla Mohammed and J. Tolmie and C Shoubridge and Mark Corbett and Alison Gardner and Eric Haan and Sinitdhorn Rujirabanjerd and Marie A. Shaw and Lucianne Vandeleur and Tod Fullston and Douglas F. Easton and Jackie Boyle and Michael P Partington and Anna Hackett and Michael B. Field and Cindy Skinner and Roger E Stevenson and Martin Bobrow and Gillian Turner and Charles E. Schwartz and Jozef G{\'e}cz and Frances Lucy Raymond and P. Andrew Futreal and Michael R. Stratton},
  journal={Nature Genetics},
  year={2009},
  volume={41},
  pages={535-543}
}
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… CONTINUE READING
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update 2007

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  • Eur. J. Hum. Genet. 16, 422–434
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Mutations in the BRWD3 gene cause X–linked mental retardation associated with macrocephaly

  • M Field
  • Am. J. Hum. Genet
  • 2007

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