Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line

by Xiao Zhang, Dan Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan
Published 2018-05-01

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

by Xiao Zhang, Dan Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan
Published 2018-08-01

Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

by Zhiqin Huang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Terri McLaren, Tina Lamey, John N. De Roach, Samuel McLenachan, Fred K. Chen
Published 2019-10-01

Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier

by Samuel McLenachan, Dan Zhang, Xiao Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Sue Fletcher, Fred K. Chen
Published 2019-01-01

Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

by Luke Jennings, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan
Published 2020-10-01

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation

by Xiao Zhang, Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Samuel McLenachan, Fred K. Chen
Published 2019-05-01

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

Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

by Johann N. Claassen, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Samuel McLenachan, Fred K. Chen
Published 2019-01-01

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

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

by Khine Zaw, Elaine Y.M. Wong, Xiao Zhang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Tina Lamey, Terri McLaren, John N. De Roach, Steve D. Wilton, Sue Fletcher, Chalermchai Mitrpant, Marcus D. Atlas, Fred K. Chen, Samuel McLenachan
Published 2021-01-01

Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene

by Samuel McLenachan, Elaine Y.M. Wong, Xiao Zhang, Fiona Leith, Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Terri McLaren, Tina Lamey, John N. De Roach, Marcus D. Atlas, Rodney J. Dilley, Fred K. Chen
Published 2019-04-01

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