Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy

por Huang, Zhiqin, Zhang, Dan, Chen, Shang-Chih, Huang, Di, Mackey, David, Chen, Fred K., McLenachan, Samuel
Publicado 2023

Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epithelium

por Huang, Zhiqin, Zhang, Dan, Chen, Shang‐Chih, Jennings, Luke, Carvalho, Livia S., Fletcher, Sue, Chen, Fred K., McLenachan, Samuel
Publicado 2021

Acute progressive paravascular placoid neuroretinopathy with negative-type electroretinography in paraneoplastic retinopathy

por Chen, Fred K., Chew, Avenell L., Zhang, Dan, Chen, Shang-Chih, Chelva, Enid, Chandrasekera, Erandi, Koay, Eleanor M. H., Forrester, John, McLenachan, Samuel
Publicado 2017

Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids

por Zhang, Xiao, Zhang, Dan, Thompson, Jennifer A., Chen, Shang‐Chih, Huang, Zhiqin, Jennings, Luke, McLaren, Terri L., Lamey, Tina M., De Roach, John N., Chen, Fred K., McLenachan, Samuel
Publicado 2021

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

por Huang, Di, Thompson, Jennifer A., Charng, Jason, Chelva, Enid, McLenachan, Samuel, Chen, Shang‐Chih, Zhang, Dan, McLaren, Terri L., Lamey, Tina M., Constable, Ian J., De Roach, John N., Aung‐Htut, May Thandar, Adams, Abbie, Fletcher, Sue, Wilton, Steve D., Chen, Fred K.
Publicado 2020

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

por McLenachan, Samuel, Zhang, Dan, Grainok, Janya, Zhang, Xiao, Huang, Zhiqin, Chen, Shang-Chih, Zaw, Khine, Lima, Alanis, Jennings, Luke, Roshandel, Danial, Moon, Sang Yoon, Heath Jeffery, Rachael C., Attia, Mary S., Thompson, Jennifer A., Lamey, Tina M., McLaren, Terri L., De Roach, John, Fletcher, Sue, Chen, Fred K.
Publicado 2021