Zobrazeno 1 - 2
of 2
pro vyhledávání: '"T. Bayzetinova"'
Autor:
Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
Publikováno v:
American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148
https://doi.org/10.1016/j.ajhg.2019.09.015
https://doi.org/10.1016/j.ajhg.2019.09.015
Autor:
Wright CF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. Electronic address: caroline.wright@sanger.ac.uk., Fitzgerald TW; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Jones WD; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Clayton S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., McRae JF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., van Kogelenberg M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., King DA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Ambridge K; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Barrett DM; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Bayzetinova T; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Bevan AP; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Bragin E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Chatzimichali EA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Gribble S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Jones P; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Krishnappa N; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Mason LE; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Miller R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Morley KI; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; Institute of Psychiatry, King's College London, London, UK; Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia., Parthiban V; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Prigmore E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Rajan D; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Sifrim A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Swaminathan GJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Tivey AR; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Middleton A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Parker M; The Ethox Centre, Nuffield Department of Population Health University of Oxford, Old Road Campus, Oxford, UK., Carter NP; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Barrett JC; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK., FitzPatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, WGH, Edinburgh, UK., Firth HV; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
Publikováno v:
Lancet (London, England) [Lancet] 2015 Apr 04; Vol. 385 (9975), pp. 1305-14. Date of Electronic Publication: 2014 Dec 17.