Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

Chen, Fred (Chief Investigator)
Fletcher, Sue (Investigator 02)
McLenachan, Sam (Investigator 03)
Cunningham, Paula (Investigator 04)

UWA Medical School

Status	Active
Effective start/end date	1/01/20 → 31/12/24

Funding

National Health & Medical Research Council NHMRC: A$1,150,100.00

Access Project

http://purl.org/au-research/grants/nhmrc/1188694

24 Article
7 Review article

Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy
Heath Jeffery, R. C., Thompson, J. A., Lamey, T. M., McLaren, T. L., De Roach, J. N., McAllister, I. L., Constable, I. J. & Chen, F. K., Jan 2023, In: Ophthalmology Retina. 7, 1, p. 81-91 11 p.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Citation (Scopus)
Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers
Roshandel, D., Lamey, T. M., Charng, J., Heath Jeffery, R. C., McLaren, T. L., Thompson, J. A., De Roach, J. N., McLenachan, S., Mackey, D. A. & Chen, F. K., Jan 2023, In: Investigative ophthalmology & visual science. 64, 1, p. 3 12 p., 3.
Research output: Contribution to journal › Article › peer-review

Open Access
1 Citation (Web of Science)
Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy
Huang, Z., Zhang, D., Chen, S. C., Huang, D., Mackey, D., Chen, F. K. & McLenachan, S., May 2023, In: Cells. 12, 10, 1358.
Research output: Contribution to journal › Article › peer-review

Open Access