SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

McNeill, A., Iovino, E., Mansard, L. et al. (17 more authors) (2020) SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain. awaa176. ISSN 0006-8950



  • McNeill, A.
  • Iovino, E.
  • Mansard, L.
  • Vache, C.
  • Baux, D.
  • Bedoukian, E.
  • Cox, H.
  • Dean, J.
  • Goudie, J.
  • Kumar, A.
  • Newbury-Ecob, R.
  • Fallerini, C.
  • lopergolo, D.
  • Mari, F.
  • Renieri, A.
  • Blanchet, C.
  • Willems, M.
  • Roux, A.
  • Pippucci, T.
  • Delpire, E.
Copyright, Publisher and Additional Information: © 2020 The Authors. Published by Oxford University Press on behalf of the Guarantors of Brain. This is an author-produced version of a paper subsequently published in Brain. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: Corticogenesis; neurodevelopmental disorder; de novo mutation; exome; brain
  • Accepted: 6 April 2020
  • Published (online): 13 July 2020
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: 04 May 2020 11:24
Last Modified: 23 Jul 2020 10:06
Status: Published online
Publisher: Oxford University Press (OUP)
Refereed: Yes
Identification Number:


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Embargoed until: 13 July 2021

Filename: BRAIN-2019-01762.R2_Proof_hi.pdf

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