Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

Toms, M., Dubis, A.M., de Vrieze, E. et al. (11 more authors) (2020) Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Human Molecular Genetics, 29 (11). pp. 1882-1899. ISSN 0964-6906



  • Toms, M.
  • Dubis, A.M.
  • de Vrieze, E.
  • Tracey-White, D.
  • Mitsios, A.
  • Hayes, M.
  • Broekman, S.
  • Baxendale, S. ORCID logo
  • Utoomprurkporn, N.
  • Bamiou, D.
  • Bitner-Glindzicz, M.
  • Webster, A.R.
  • Van Wijk, E.
  • Moosajee, M.
Copyright, Publisher and Additional Information: © The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Adolescent; Adult; Aged; Animals; Autophagy; Disease Models, Animal; Electroretinography; Extracellular Matrix Proteins; Female; Genetic Association Studies; Genotype; Hearing Loss, Sensorineural; Humans; Male; Middle Aged; Mutation; Opsins; Retina; Retinal Cone Photoreceptor Cells; Retinitis Pigmentosa; Rhodopsin; Rod Opsins; Usher Syndromes; Visual Acuity; Young Adult; Zebrafish
  • Accepted: 29 December 2019
  • Published (online): 30 January 2020
  • Published: 1 June 2020
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Science (Sheffield) > School of Biosciences (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 15 Feb 2023 15:56
Last Modified: 15 Feb 2023 15:56
Status: Published
Publisher: Oxford University Press (OUP)
Refereed: Yes
Identification Number:
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