Research output per year
Research output per year
Research output
- 3 Article
Search results
-
2021
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy
Huang, Z., Zhang, D., Thompson, J. A., Jamuar, S. S., Roshandel, D., Jennings, L., Mellough, C., Charng, J., Chen, S. C., McLaren, T. L., Lamey, T. M., Chelva, E., De Roach, J. N., Chan, C. M., McLenachan, S. & Chen, F. K., 2021, In: Ophthalmic Genetics. 42, 3, p. 266-275 10 p.Research output: Contribution to journal › Article › peer-review
7 Citations (Scopus) -
Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium
Huang, Z., Zhang, D., Chen, S. C., Jennings, L., Carvalho, L. S., Fletcher, S., Chen, F. K. & McLenachan, S., Nov 2021, In: Journal of Cellular and Molecular Medicine. 25, 21, p. 10020-10027 8 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Scopus) -
2019
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
Huang, Z., Zhang, D., Chen, S. C., Thompson, J. A., McLaren, T., Lamey, T., De Roach, J. N., McLenachan, S. & Chen, F. K., 1 Oct 2019, In: Stem Cell Research. 40, 101549.Research output: Contribution to journal › Article › peer-review
Open Access7 Citations (Scopus)