Large-scale discovery of novel genetic causes of developmental disorders

Large-scale discovery of novel genetic causes of developmental disorders

Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enou...

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Main Authors: Fitzgerald, T.W (Author), Gerety, S.S (Author), Jones, W.D (Author), van Kogelenberg, M. (Author), King, D.A (Author), McRae, J. (Author), Morley, K.I (Author), Parthiban, V. (Author), Al-Turki, S. (Author), Ambridge, K. (Author), Barrett, D.M (Author), Bayzetinova, T. (Author), Clayton, S. (Author), Coomber, E.L (Author), Gribble, S. (Author), Jones, P. (Author), Krishnappa, N. (Author), Mason, L.E (Author), Middleton, A. (Author), Miller, R. (Author), Prigmore, E. (Author), Rajan, D. (Author), Sifrim, A. (Author), Tivey, A.R (Author), Ahmed, M. (Author), Akawi, N. (Author), Andrews, R. (Author), Anjum, U. (Author), Archer, H. (Author), Armstrong, R. (Author), Balasubramanian, M. (Author), Banerjee, R. (Author), Baralle, D. (Author), Batstone, P. (Author), Baty, D. (Author), Bennett, C. (Author), Berg, J. (Author), Bernhard, B. (Author), Bevan, A.P (Author), Blair, E. (Author), Blyth, M. (Author), Bohanna, D. (Author), Bourdon, L. (Author), Bourn, D. (Author), Brady, A. (Author), Bragin, E. (Author), Brewer, C. (Author), Brueton, L. (Author), Brunstrom, K. (Author), Bumpstead, S.J (Author), Bunyan, D.J (Author), Burn, J. (Author), Burton, J. (Author), Canham, N. (Author), Castle, B. (Author), Chandler, K. (Author), Clasper, S. (Author), Clayton-Smith, J. (Author), Cole, T. (Author), Collins, A. (Author), Collinson, M.N (Author), Connell, F. (Author), Cooper, N. (Author), Cox, H. (Author), Cresswell, L. (Author), Cross, G. (Author), Crow, Y. (Author), D'Alessandro, M. (Author), Dabir, T. (Author), Davidson, R. (Author), Davies, S. (Author), Dean, J. (Author), Deshpande, C. (Author), Devlin, G. (Author), Dixit, A. (Author), Dominiczak, A. (Author), Donnelly, C. (Author), Donnelly, D. (Author), Douglas, A. (Author), Duncan, A. (Author), Eason, J. (Author), Edkins, S. (Author), Ellard, S. (Author), Ellis, P. (Author), Elmslie, F. (Author), Evans, K. (Author), Everest, S. (Author), Fendick, T. (Author), Fisher, R. (Author), Flinter, F. (Author), Foulds, N. (Author), Fryer, A. (Author), Fu, B. (Author), Gardiner, C. (Author), Gaunt, L. (Author), Ghali, N. (Author), Gibbons, R. (Author), Gomes Pereira, S.L (Author), Goodship, J. (Author), Goudie, D. (Author), Gray, E. (Author), Greene, P. (Author), Greenhalgh, L. (Author), Harrison, L. (Author), Hawkins, R. (Author), Hellens, S. (Author), Henderson, A. (Author), Hobson, E. (Author), Holden, S. (Author), Holder, S. (Author), Hollingsworth, G. (Author), Homfray, T. (Author), Humphreys, M. (Author), Hurst, J. (Author), Ingram, S. (Author), Irving, M. (Author), Jarvis, J. (Author), Jenkins, L. (Author), Johnson, D. (Author), Jones, D. (Author), Jones, E. (Author), Josifova, D. (Author), Joss, S. (Author), Kaemba, B. (Author), Kazembe, S. (Author), Kerr, B. (Author), Kini, U. (Author), Kinning, E. (Author), Kirby, G. (Author), Kirk, C. (Author), Kivuva, E. (Author), Kraus, A. (Author), Kumar, D. (Author), Lachlan, K. (Author), Lam, W. (Author), Lampe, A. (Author), Langman, C. (Author), Lees, M. (Author), Lim, D. (Author), Lowther, G. (Author), Lynch, S.A (Author), Magee, A. (Author), Maher, E. (Author), Mansour, S. (Author), Marks, K. (Author), Martin, K. (Author), Maye, U. (Author), McCann, E. (Author), McConnell, V. (Author), McEntagart, M. (Author), McGowan, R. (Author), McKay, K. (Author), McKee, S. (Author), McMullan, D.J (Author), McNerlan, S. (Author), Mehta, S. (Author), Metcalfe, K. (Author), Miles, E. (Author), Mohammed, S. (Author), Montgomery, T. (Author), Moore, D. (Author), Morgan, S. (Author), Morris, A. (Author), Morton, J. (Author), Mugalaasi, H. (Author), Murday, V. (Author), Nevitt, L. (Author), Newbury-Ecob, R. (Author), Norman, A. (Author), O'Shea, R. (Author), Ogilvie, C. (Author), Park, S. (Author), Parker, M. J. (Author), Patel, C. (Author), Paterson, J. (Author), Payne, S. (Author), Phipps, J. (Author), Pilz, D.T (Author), Porteous, D. (Author), Pratt, N. (Author), Prescott, K. (Author), Price, S. (Author), Pridham, A. (Author), Procter, A. (Author), Purnell, H. (Author), Ragge, N. (Author), Rankin, J. (Author), Raymond, L. (Author), Rice, D. (Author), Robert, L. (Author), Roberts, E. (Author), Roberts, G. (Author), Roberts, J. (Author), Roberts, P. (Author), Ross, A. (Author), Rosser, E. (Author), Saggar, A. (Author), Samant, S. (Author), Sandford, R. (Author), Sarkar, A. (Author), Schweiger, S. (Author), Scott, C. (Author), Scott, R. (Author), Selby, A. (Author), Seller, A. (Author), Sequeira, C. (Author), Shannon, N. (Author), Sharif, S. (Author), Shaw-Smith, C. (Author), Shearing, E. (Author), Shears, D. (Author), Simonic, I. (Author), Simpkin, D. (Author), Singzon, R. (Author), Skitt, Z. (Author), Smith, A. (Author), Smith, B. (Author), Smith, K. (Author), Smithson, S. (Author), Sneddon, L. (Author), Splitt, M. (Author), Squires, M. (Author), Stewart, F. (Author), Stewart, H. (Author), Suri, M. (Author), Sutton, V. (Author), Swaminathan, G.J (Author), Sweeney, E. (Author), Tatton-Brown, K. (Author), Taylor, C. (Author), Taylor, R. (Author), Tein, M. (Author), Temple, I.K (Author), Thomson, J. (Author), Tolmie, J. (Author), Torokwa, A. (Author), Treacy, B. (Author), Turner, C. (Author), Turnpenny, P. (Author), Tysoe, C. (Author), Vandersteen, A. (Author), Vasudevan, P. (Author), Vogt, J. (Author), Wakeling, E. (Author), Walker, D. (Author), Waters, J. (Author), Weber, A. (Author), Wellesley, D. (Author), Whiteford, M. (Author), Widaa, S. (Author), Wilcox, S. (Author), Williams, D. (Author), Williams, N. (Author), Woods, G. (Author), Wragg, C. (Author), Wright, M. (Author), Yang, F. (Author), Yau, M. (Author), Carter, N.P (Author), Parker, M. (Author), Firth, H.V (Author), FitzPatrick, D.R (Author), Wright, C.F (Author), Barrett, J.C (Author), Hurles, M.E (Author)
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Language:English
Published: 2015-03-12.
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