Prevalence and architecture of de novo mutations in developmental disorders

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Abstract

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Authors/Creators:
  • McRae, J.F.
  • Clayton, S.
  • Fitzgerald, T.W.
  • Kaplanis, J.
  • Prigmore, E.
  • Rajan, D.
  • Sifrim, A.
  • Aitken, S.
  • Akawi, N.
  • Alvi, M.
  • Ambridge, K.
  • Barrett, D.M.
  • Bayzetinova, T.
  • Jones, P.
  • Jones, W.D.
  • King, D.
  • Krishnappa, N.
  • Mason, L.E.
  • Singh, T.
  • Tivey, A.R.
  • Ahmed, M.
  • Anjum, U.
  • Archer, H.
  • Armstrong, R.
  • Awada, J.
  • Balasubramanian, M.
  • Banka, S.
  • Baralle, D.
  • Barnicoat, A.
  • Batstone, P.
  • Baty, D.
  • Bennett, C.
  • Berg, J.
  • Bernhard, B.
  • Bevan, A.P.
  • Bitner-Glindzicz, M.
  • Blair, E.
  • Blyth, M.
  • Bohanna, D.
  • Bourdon, L.
  • Bourn, D.
  • Bradley, L.
  • Brady, A.
  • Brent, S.
  • Brewer, C.
  • Brunstrom, K.
  • Bunyan, D.J.
  • Burn, J.
  • Canham, N.
  • Castle, B.
  • Chandler, K.
  • Chatzimichali, E.
  • Cilliers, D.
  • Clarke, A.
  • Clasper, S.
  • Clayton-Smith, J.
  • Clowes, V.
  • Coates, A.
  • Cole, T.
  • Colgiu, I.
  • Collins, A.
  • Collinson, M.N.
  • Connell, F.
  • Cooper, N.
  • Cox, H.
  • Cresswell, L.
  • Cross, G.
  • Crow, Y.
  • D'Alessandro, M.
  • Dabir, T.
  • Davidson, R.
  • Davies, S.
  • de Vries, D.
  • Dean, J.
  • Deshpande, C.
  • Devlin, G.
  • Dixit, A.
  • Dobbie, A.
  • Donaldson, A.
  • Donnai, D.
  • Donnelly, D.
  • Donnelly, C.
  • Douglas, A.
  • Douzgou, S.
  • Duncan, A.
  • Eason, J.
  • Ellard, S.
  • Ellis, I.
  • Elmslie, F.
  • Evans, K.
  • Everest, S.
  • Fendick, T.
  • Fisher, R.
  • Flinter, F.
  • Foulds, N.
  • Fry, A.
  • Fryer, A.
  • Gardiner, C.
  • Gaunt, L.
  • Ghali, N.
  • Gibbons, R.
  • Gill, H.
  • Goodship, J.
  • Goudie, D.
  • Gray, E.
  • Green, A.
  • Greene, P.
  • Greenhalgh, L.
  • Gribble, S.
  • Harrison, R.
  • Harrison, L.
  • Harrison, V.
  • Hawkins, R.
  • He, L.
  • Hellens, S.
  • Henderson, A.
  • Hewitt, S.
  • Hildyard, L.
  • Hobson, E.
  • Holden, S.
  • Holder, M.
  • Holder, S.
  • Hollingsworth, G.
  • Homfray, T.
  • Humphreys, M.
  • Hurst, J.
  • Hutton, B.
  • Ingram, S.
  • Irving, M.
  • Islam, L.
  • Jackson, A.
  • Jarvis, J.
  • Jenkins, L.
  • Johnson, D.
  • Jones, E.
  • Josifova, D.
  • Joss, S.
  • Kaemba, B.
  • Kazembe, S.
  • Kelsell, R.
  • Kerr, B.
  • Kingston, H.
  • Kini, U.
  • Kinning, E.
  • Kirby, G.
  • Kirk, C.
  • Kivuva, E.
  • Kraus, A.
  • Kumar, D.
  • Kumar, V.K.A.
  • Lachlan, K.
  • Lam, W.
  • Lampe, A.
  • Langman, C.
  • Lees, M.
  • Lim, D.
  • Longman, C.
  • Lowther, G.
  • Lynch, S.A.
  • Magee, A.
  • Maher, E.
  • Male, A.
  • Mansour, S.
  • Marks, K.
  • Martin, K.
  • Maye, U.
  • McCann, E.
  • McConnell, V.
  • McEntagart, M.
  • McGowan, R.
  • McKay, K.
  • McKee, S.
  • McMullan, D.J.
  • McNerlan, S.
  • McWilliam, C.
  • Mehta, S.
  • Metcalfe, K.
  • Middleton, A.
  • Miedzybrodzka, Z.
  • Miles, E.
  • Mohammed, S.
  • Montgomery, T.
  • Moore, D.
  • Morgan, S.
  • Morton, J.
  • Mugalaasi, H.
  • Murday, V.
  • Murphy, H.
  • Naik, S.
  • Nemeth, A.
  • Nevitt, L.
  • Newbury-Ecob, R.
  • Norman, A.
  • O'Shea, R.
  • Ogilvie, C.
  • Ong, K.-R.
  • Park, S.-M.
  • Parker, M.J.
  • Patel, C.
  • Paterson, J.
  • Payne, S.
  • Perrett, D.
  • Phipps, J.
  • Pilz, D.T.
  • Pollard, M.
  • Pottinger, C.
  • Poulton, J.
  • Pratt, N.
  • Prescott, K.
  • Price, S.
  • Pridham, A.
  • Procter, A.
  • Purnell, H.
  • Quarrell, O.
  • Ragge, N.
  • Rahbari, R.
  • Randall, J.
  • Rankin, J.
  • Raymond, L.
  • Rice, D.
  • Robert, L.
  • Roberts, E.
  • Roberts, J.
  • Roberts, P.
  • Roberts, G.
  • Ross, A.
  • Rosser, E.
  • Saggar, A.
  • Samant, S.
  • Sampson, J.
  • Sandford, R.
  • Sarkar, A.
  • Schweiger, S.
  • Scott, R.
  • Scurr, I.
  • Selby, A.
  • Seller, A.
  • Sequeira, C.
  • Shannon, N.
  • Sharif, S.
  • Shaw-Smith, C.
  • Shearing, E.
  • Shears, D.
  • Sheridan, E.
  • Simonic, I.
  • Singzon, R.
  • Skitt, Z.
  • Smith, A.
  • Smith, K.
  • Smithson, S.
  • Sneddon, L.
  • Splitt, M.
  • Squires, M.
  • Stewart, F.
  • Stewart, H.
  • Straub, V.
  • Suri, M.
  • Sutton, V.
  • Swaminathan, G.J.
  • Sweeney, E.
  • Tatton-Brown, K.
  • Taylor, C.
  • Taylor, R.
  • Tein, M.
  • Temple, K.
  • Thomson, J.
  • Tischkowitz, M.
  • Tomkins, S.
  • Torokwa, A.
  • Treacy, B.
  • Turner, C.
  • Turnpenny, P.
  • Tysoe, C.
  • Vandersteen, A.
  • Varghese, V.
  • Vasudevan, P.
  • Vijayarangakannan, P.
  • Vogt, J.
  • Wakeling, E.
  • Wallwark, S.
  • Waters, J.
  • Weber, A.
  • Wellesley, D.
  • Whiteford, M.
  • Widaa, S.
  • Wilcox, S.
  • Wilkinson, E.
  • Williams, D.
  • Williams, N.
  • Wilson, L.
  • Woods, G.
  • Wragg, C.
  • Wright, M.
  • Yates, L.
  • Yau, M.
  • Nellaker, C.
  • Parker, M.
  • Firth, H.V.
  • Wright, C.F.
  • FitzPatrick, D.R.
  • Barrett, J.C.
  • Hurles, M.E.
Copyright, Publisher and Additional Information: © 2017 Macmillan Publishers Limited, part of Springer Nature. This is an author produced version of a paper subsequently published in Nature. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Clinical genetics; Mutation; Neurological disorders
Dates:
  • Published: 23 February 2017
  • Published (online): 25 January 2017
  • Accepted: 15 December 2016
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 05 Apr 2017 11:06
Last Modified: 27 Feb 2019 12:11
Published Version: https://doi.org/10.1038/nature21062
Status: Published
Publisher: Nature Publishing Group
Refereed: Yes
Identification Number: https://doi.org/10.1038/nature21062
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