Publications: Chen, Fred

Journal Article

McLenachan, S., Zhang, D., Grainok, J., Zhang, X., Huang, Z., Chen, S-C, Zaw, K.ORCID: 0000-0002-4121-1985, Lima, A., Jennings, L., Roshandel, D., Moon, S.Y., Heath Jeffery, R.C., Attia, M.S., Thompson, J.A., Lamey, T.M., McLaren, T.L., De Roach, J., Fletcher, S. and Chen, F.K. (2021) Determinants of disease penetrance in PRPF31-associated retinopathy. Genes, 12 (10). Article 1542.

Lingham, G., Lee, S.S-Y, Charng, J., Clarke, A., Chen, F.K., Yazar, S. and Mackey, D.A. (2021) Distribution and classification of peripapillary retinal nerve fiber layer thickness in healthy young adults. Translational Vision Science & Technology, 10 (9). Art. 3.

Huang, Z., Zhang, D., Chen, S‐C, Jennings, L., Carvalho, L.S., Fletcher, S., Chen, F.K. and McLenachan, S. (2021) Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epithelium. Journal of Cellular and Molecular Medicine, 25 (21). pp. 10020-10027.

Huang, D., Zhang, D., Chen, S-C, Thandar Aung-Htut, M., Lamey, T.M., Thompson, J.A., McLaren, T.L., De Roach, J.N., Fletcher, S., Wilton, S.D., McLenachan, S. and Chen, F.K. (2021) Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene. Stem Cell Research, 54 . Art. 102439.

Zaw, K.ORCID: 0000-0002-4121-1985, Wong, E.Y.M., Zhang, X., Zhang, D., Chen, S-C, Thompson, J.A., Lamey, T., McLaren, T., De Roach, J.N., Wilton, S.D., Fletcher, S., Mitrpant, C., Atlas, M.D., Chen, F.K. and McLenachan, S. (2021) Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene. Stem Cell Research, 50 . Article 102129.

Huang, D., Zhang, D., Chen, S-C, Aung-Htut, M.T., Lamey, T.M., Thompson, J.A., McLaren, T.L., De Roach, J.N., Fletcher, S., Wilton, S.D., Chen, F.K. and McLenachan, S. (2021) Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene. Stem Cell Research, 54 . Art. 102448.

Zhang, D., McLenachan, S., Chen, S.-C., Zaw, K.ORCID: 0000-0002-4121-1985, Alziyadat, Y., Zhang, X., Lamey, T.M., Thompson, J.A., McLaren, T.L., Mellough, C., De Roach, J.N. and Chen, F.K. (2021) Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200. Stem Cell Research, 51 . Article 102154.

Grainok, J., Pitout, I., Wilton, S., Chen, F.K., Mitrpant, C. and Fletcher, S. (2021) Modulation of CNOT3 expression using antisense oligomers to treat retinitis pigmentosa 11. Investigative Ophthalmology and Visual Science, 62 (8). Article 1181.

Huang, D., Heath Jeffery, R.C., Aung-Htut, M.T., McLenachan, S., Fletcher, S., Wilton, S.D. and Chen, F.K. (2021) Stargardt disease and progress in therapeutic strategies. Ophthalmic Genetics . ahead-of-print.

Huang, D., Thompson, J.A., McLenachan, S., Chen, S-C, Zhang, D., Heath Jeffery, R.C., Attia, M., McLaren, T.L., Lamey, T.M., De Roach, J.N., Aung-Htut, M.T., Adams, A., Fletcher, S., Wilton, S. and Chen, F.K. (2021) Using induced pluripotent stem cell-derived retinal pigment epithelial cells to model splicing defects of ABCA4 c.5461-10T > C detected in an Australian Stargardt disease cohort. Investigative Ophthalmology and Visual Science, 62 (8). Art. 3294.

Roshandel, D., Thompson, J.A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M.S., Lamey, T.M., McLaren, T.L., De Roach, J.N., Mackey, D.A., Wilton, S.D., Fletcher, S., McLenachan, S. and Chen, F.K. (2020) Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic Genetics . pp. 1-14.

Huang, D., Thompson, J.A., Charng, J., Chelva, E., McLenachan, S., Chen, S‐C, Zhang, D., McLaren, T.L., Lamey, T.M., Constable, I.J., De Roach, J.N., Aung‐Htut, M.T., Adams, A.M., Fletcher, S., Wilton, S.D. and Chen, F.K. (2020) Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect. Molecular Genetics & Genomic Medicine . Art. e1259.

Kugelman, J., Alonso-Caneiro, D., Chen, Y., Arunachalam, S., Huang, D., Vallis, N., Collins, M.J. and Chen, F.K. (2020) Retinal boundary segmentation in stargardt disease optical coherence tomography images using automated deep learning. Translational Vision Science & Technology, 9 (11). Art. 12.

Mellough, C.M., Ackerman, M., Thompson, J.A., De Roach, J., McLaren, T., Lamey, T., Akkari, A., Ram, R., Leary, S., Chopra, A., Chen, S.C., Zhang, D., McLenachan, S. and Chen, F.K. (2019) Utilising patient-specific retinal organoids to investigate the role of SNRNP200 variants of unknown significance in severe early onset retinitis pigmentosa. Investigative Ophthalmology and Visual Science, 60 (9). p. 2868.

Huang, D., Fletcher, S., Wilton, S., Palmer, N., McLenachan, S., Mackey, D. and Chen, F. (2017) Inherited retinal disease therapies targeting precursor messenger ribonucleic acid. Vision, 1 (3). p. 22.

Alvarez Palomo, A.B., McLenachan, S., Chen, F.K., Da Cruz, L., Dilley, R.J., Requena, J., Lucas, M., Lucas, A., Drukker, M. and Edel, M.J. (2015) Prospects for clinical use of reprogrammed cells for autologous treatment of macular degeneration. Fibrogenesis & Tissue Repair, 8 (1).