De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito, Y., Carss, K.J., Duarte, S.T. et al. (18 more authors) (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. The American Journal of Human Genetics, 103 (1). pp. 144-153. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Ito, Y.
  • Carss, K.J.
  • Duarte, S.T.
  • Hartley, T.
  • Keren, B.
  • Kurian, M.A.
  • Marey, I.
  • Charles, P.
  • Mendonça, C.
  • Nava, C.
  • Pfundt, R.
  • Sanchis-Juan, A.
  • van Bokhoven, H.
  • van Essen, A.
  • van Ravenswaaij-Arts, C.
  • NIHR BioResource, NIHR
  • Care4Rare Canada Consortium, CCC
  • Boycott, K.M.
  • Kernohan, K.D.
  • Dyack, S.
  • Raymond, F.L.
Copyright, Publisher and Additional Information: Crown Copyright © 2018. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)
Keywords: WASF1; WAVE1 complex; neurodevelopmental disorder; autism; seizures; lamellipodia; actin cytoskeleton; recurrent de novo truncating mutations; developmental delay
Dates:
  • Accepted: 4 June 2018
  • Published (online): 28 June 2018
  • Published: 5 July 2018
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Sheffield Teaching Hospitals
Depositing User: Symplectic Sheffield
Date Deposited: 20 Mar 2019 17:08
Last Modified: 20 Mar 2019 17:08
Status: Published
Publisher: Elsevier (Cell Press)
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.ajhg.2018.06.001
Related URLs:

Share / Export

Statistics