Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Xu, M, Xie, YA, Abouzeid, H et al. (64 more authors) (2017) Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. American Journal of Human Genetics, 100 (4). pp. 592-604. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Xu, M
  • Xie, YA
  • Abouzeid, H
  • Gordon, CT
  • Fiorentino, A
  • Sun, Z
  • Lehman, A
  • Osman, IS
  • Dharmat, R
  • Riveiro-Alvarez, R
  • Bapst-Wicht, L
  • Babino, D
  • Arno, G
  • Busetto, V
  • Zhao, L
  • Li, H
  • Lopez-Martinez, MA
  • Azevedo, LF
  • Hubert, L
  • Pontikos, N
  • Eblimit, A
  • Lorda-Sanchez, I
  • Kheir, V
  • Plagnol, V
  • Oufadem, M
  • Soens, ZT
  • Yang, L
  • Bole-Feysot, C
  • Pfundt, R
  • Allaman-Pillet, N
  • Nitschké, P
  • Cheetham, ME
  • Lyonnet, S
  • Agrawal, SA
  • Li, H
  • Pinton, G
  • Michaelides, M
  • Besmond, C
  • Li, Y
  • Yuan, Z
  • von Lintig, J
  • Webster, AR
  • Le Hir, H
  • Stoilov, P
  • Amiel, J
  • Hardcastle, AJ
  • Ayuso, C
  • Sui, R
  • Chen, R
  • Allikmets, R
  • Schorderet, DF
  • Black, G
  • Hall, G
  • Gillespie, R
  • Ramsden, S
  • Manson, F
  • Sergouniotis, P
  • Inglehearn, C
  • Toomes, C https://orcid.org/0000-0001-8373-9545
  • Ali, M
  • McKibbin, M
  • Poulter, J
  • Lord, E https://orcid.org/0000-0001-9216-7382
  • Nemeth, A
  • Halford, S
  • Downes, S
  • Yu, J
Copyright, Publisher and Additional Information: © 2017 American Society of Human Genetics. This is an author produced version of a paper published in American Journal of Human Genetics. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: CRISPR-Cas9; CWC27; brachydachtyly; craniofacial defects; neurological defects; retinal degeneration; short stature; spliceosome; syndrome
Dates:
  • Published: 6 April 2017
  • Accepted: 15 February 2017
  • Published (online): 9 March 2017
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 16 Aug 2017 11:58
Last Modified: 06 Nov 2017 00:07
Status: Published
Publisher: Elsevier (Cell Press)
Identification Number: https://doi.org/10.1016/j.ajhg.2017.02.008

Share / Export

Statistics