Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 2. 101864. ISSN 2949-7744

Abstract

Metadata

Item Type: Article
Authors/Creators:
  • Copeland, H.
  • Low, K.J.
  • Wynn, S.L.
  • Ahmed, A.
  • Arthur, V.
  • Balasubramanian, M. ORCID logo https://orcid.org/0000-0003-1488-3695
  • Bennett, K.
  • Berg, J.
  • Bertoli, M.
  • Bryson, L.
  • Bucknall, C.
  • Campbell, J.
  • Chandler, K.
  • Chauhan, J.
  • Clarkson, A.
  • Coles, R.
  • Conti, H.
  • Costello, P.
  • Coupar, T.
  • Craig, A.
  • Dean, J.
  • Dillon, A.
  • Dixit, A.
  • Drew, K.
  • Eason, J.
  • Forzano, F.
  • Foulds, N.
  • Gardham, A.
  • Ghali, N.
  • Green, A.
  • Hanna, W.
  • Harrison, R.
  • Hegarty, M.
  • Higgs, J.
  • Holder, M.
  • Irving, R.
  • Jain, V.
  • Johnson, K.
  • Jolley, R.
  • Jones, W.D.
  • Jones, G.
  • Joss, S.
  • Kalinauskiene, R.
  • Kanani, F.
  • Kavanagh, K.
  • Khan, M.
  • Khan, N.
  • Kivuva, E.
  • Lahiri, N.
  • Lakhani, N.
  • Lampe, A.
  • Lynch, S.A.
  • Mansour, S.
  • Marsden, A.
  • Massey, H.
  • McKee, S.
  • Mohammed, S.
  • Naik, S.
  • Nesarajah, M.
  • Newbury-Ecob, R.
  • Osborne, F.
  • Parker, M.J.
  • Patterson, J.
  • Pottinger, C.
  • Prapa, M.
  • Prescott, K.
  • Quinn, S.
  • Radley, J.A.
  • Robart, S.
  • Ross, A.
  • Rosti, G.
  • Sansbury, F.H.
  • Sarkar, A.
  • Searle, C.
  • Shannon, N.
  • Shears, D.
  • Smithson, S.
  • Stewart, H.
  • Suri, M.
  • Tadros, S.
  • Theobald, R.
  • Thomas, R.
  • Tsoulaki, O.
  • Vasudevan, P.
  • Rodriguez, M.V.
  • Vittery, E.
  • Whyte, S.
  • Woods, E.
  • Wright, T.
  • Zocche, D.
  • Firth, H.V.
  • Wright, C.F. ORCID logo https://orcid.org/0000-0003-2958-5076
Copyright, Publisher and Additional Information:

© 2024 The Authors. This is an Open Access article distributed under the terms of the Creative Commons Attribution Licence (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords: Clinical audit; Developmental disorders; Diagnosis; Genomic medicine; Treatment
Dates:
  • Published: 27 December 2024
  • Published (online): 14 October 2024
  • Accepted: 20 June 2024
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > The Medical School (Sheffield) > Division of Genomic Medicine (Sheffield) > Department of Oncology and Metabolism (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 11 Nov 2024 10:44
Last Modified: 25 Feb 2025 16:56
Published Version: http://dx.doi.org/10.1016/j.gimo.2024.101864
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: 10.1016/j.gimo.2024.101864
Open Archives Initiative ID (OAI ID):

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