Publications: Huang, Di

Journal Article

Huang, D., Thompson, J.A., Chen, S-C, Adams, A., Pitout, I., Lima, A., Zhang, D., Jeffery, R.C.H., Attia, M.S., McLaren, T.L., Lamey, T.M., De Roach, J.N., McLenachan, S., Aung-Htut, M.T., Fletcher, S., Wilton, S.D. and Chen, F.K. (2022) Characterising splicing defects of ABCA4 variants within exons 13–50 in patient-derived fibroblasts. Experimental Eye Research, 225 . Art. 109276.

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.

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.

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.

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.

Chen, F.K., Arunachalam, S., Vallis, N., Huang, D., Chen, Y., Thompson, J.A., McLaren, T., Lamey, T., De Roach, J. and McLenachan, S. (2019) Optical coherence tomography derived macular volume loss over 5 years in Stargardt disease. Investigative Ophthalmology and Visual Science, 60 (9). p. 4521.

Thesis

Huang, Di (2021) Characterizing Stargardt disease-causing mutations to identify ABCA4 gene lesions amenable to splice intervention therapeutics. PhD thesis, Murdoch University.