Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

Hempel, A., Pagnamenta, A. T., Blyth, M. et al. (18 more authors) (2016) Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome. Journal of Medical Genetics, 53 (3). pp. 152-162. ISSN 0022-2593

Abstract

Metadata

Authors/Creators:
  • Hempel, A.
  • Pagnamenta, A. T.
  • Blyth, M.
  • Mansour, S.
  • McConnell, V.
  • Kou, I.
  • Ikegawa, S.
  • Tsurusaki, Y.
  • Matsumoto, N.
  • Lo-Castro, A.
  • Plessis, G.
  • Albrecht, B.
  • Battaglia, A.
  • Taylor, J. C.
  • Howard, M. F.
  • Keays, D.
  • Sohal, A. S.
  • Collaboration, DDD
  • Kuehl, S. J.
  • Kini, U.
  • McNeill, A.
Copyright, Publisher and Additional Information: This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/
Keywords: Developmental; Clinical genetics; Copy-number; Diagnostics tests
Dates:
  • Published: March 2016
  • Published (online): 5 November 2015
  • Accepted: 11 September 2015
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Neuroscience (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 20 Jul 2016 14:00
Last Modified: 20 Jul 2016 20:35
Published Version: http://dx.doi.org/10.1136/jmedgenet-2015-103393
Status: Published
Publisher: BMJ Publishing Group
Refereed: Yes
Identification Number: https://doi.org/10.1136/jmedgenet-2015-103393
Related URLs:

Share / Export

Statistics