Publications: Huang, Di

Journal Article

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., 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.