Now showing items 1-2 of 2

    • Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families 

      Akawi, N.; McRae, J.; Ansari, M.; Balasubramanian, M.; Blyth, M.; Brady, A. F.; Clayton, S.; Cole, T.; Deshpande, C.; Fitzgerald, T. W.; Foulds, N.; Francis, R.; Gabriel, G.; Gerety, S. S.; Goodship, J.; Hobson, E.; Jones, W. D.; Joss, S.; King, D.; Klena, N.; Kumar, A.; Lees, M.; Lelliott, C.; Lord, J.; McMullan, D.; O'Regan, M.; Osio, Deborah; Piombo, V.; Prigmore, E.; Rajan, D.; Rosser, E.; Sifrim, A.; Smith, A.; Swaminathan, G. J.; Turnpenny, Peter D.; Whitworth, J.; Wright, Caroline F; Firth, H. V.; Barrett, J. C.; Lo, C. W.; FitzPatrick, D. R.; Hurles, M. E.; D. D. D. study (Nature, 2015-10-05)
      Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. ...
    • Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability 

      Hunt, D.; Leventer, R. J.; Simons, C.; Taft, R.; Swoboda, K. J.; Gawne-Cain, M.; D. D. D. study; Magee, A. C.; Turnpenny, Peter D.; Baralle, D. (BMJ, 2014-12-01)
      BACKGROUND: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such ...