Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

by Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan
Published 2021-07-01

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult‐onset rod‐cone dystrophy caused by the c.1892A>G and c.2548G>A variants

by Xiao Zhang, Jennifer A. Thompson, Dan Zhang, Jason Charng, Sukanya Arunachalam, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Luke Jennings, Samuel McLenachan, Fred K. Chen
Published 2020-11-01

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

by Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang‐Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan
Published 2021-03-01

Clinical Evidence for the Importance of the Wild-Type <i>PRPF31</i> Allele in the Phenotypic Expression of RP11

by Danial Roshandel, Jennifer A. Thompson, Rachael C. Heath Jeffery, Dan Zhang, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Samuel McLenachan, David A. Mackey, Fred K. Chen
Published 2021-06-01

Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200

by Dan Zhang, Samuel McLenachan, Shang-Chih Chen, Khine Zaw, Yaqin Alziyadat, Xiao Zhang, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Carla Mellough, John N. De Roach, Fred K. Chen
Published 2021-03-01

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

by Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D. Wilton, Samuel McLenachan, Fred K. Chen
Published 2021-07-01

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

by Di Huang, Dan Zhang, Shang-Chih Chen, May Thandar Aung-Htut, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Sue Fletcher, Steve D Wilton, Fred K. Chen, Samuel McLenachan
Published 2021-07-01

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

by Di Huang, Jennifer A. Thompson, Jason Charng, Enid Chelva, Samuel McLenachan, Shang‐Chih Chen, Dan Zhang, Terri L. McLaren, Tina M. Lamey, Ian J. Constable, John N. De Roach, May Thandar Aung‐Htut, Abbie Adams, Sue Fletcher, Steve D. Wilton, Fred K. Chen
Published 2020-07-01

Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence

by Rachael C. Heath Jeffery, MChD, MPH, Jennifer A. Thompson, PhD, Johnny Lo, PhD, Tina M. Lamey, PhD, Terri L. McLaren, BSc, Ian L. McAllister, MD, David A. Mackey, MD, Ian J. Constable, MD, John N. De Roach, PhD, Fred K. Chen, MBBS, PhD
Published 2021-03-01