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    • 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. ...