De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Abstract

Metadata

Authors/Creators:
  • Ito, Y
  • Carss, KJ
  • Duarte, ST
  • Hartley, T
  • Keren, B
  • Kurian, MA
  • 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,
  • Care4Rare Canada Consortium,
  • Boycott, KM
  • Kernohan, KD
  • Dyack, S
  • Raymond, FL
Copyright, Publisher and Additional Information: Crown Copyright © 2018. This is an open access article under the CC BY-NC-ND license. To view a copy of this license, visit 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:
  • Published: 5 July 2018
  • Accepted: 4 June 2018
  • Published (online): 28 June 2018
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Institute of Rheumatology & Musculoskeletal Medicine (LIRMM) (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 20 Sep 2018 15:41
Last Modified: 20 Sep 2018 15:41
Status: Published
Publisher: Elsevier
Identification Number: https://doi.org/10.1016/j.ajhg.2018.06.001

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