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Human Molecular Genetics|April 24, 2016
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide deliveryAlejandro Garanto, Daniel C Chung, Lonneke Duijkers, et al.
JAMA Ophthalmology|March 10, 2022
Short-term Assessment of Subfoveal Injection of Adeno-Associated Virus-Mediated hCHM Gene Augmentation in Choroideremia Using Adaptive Optics OphthalmoscopyJessica I W Morgan, Yu You Jiang, Grace K Vergilio, et al.
Ophthalmology. Retina|June 26, 2019
Visual Function at the Atrophic Border in Choroideremia Assessed with Adaptive Optics MicroperimetryWilliam S Tuten, Grace K Vergilio, Gloria J Young, et al.
The British Journal of Ophthalmology|July 22, 2018
Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case reportLaura Bryant, Olga Lozynska, Anson Marsh, et al.
Stem Cells International|February 26, 2019
Comparative AAV-eGFP Transgene Expression Using Vector Serotypes 1-9, 7m8, and 8b in Human Pluripotent Stem Cells, RPEs, and Human and Rat Cortical NeuronsThu T Duong, James Lim, Vidyullatha Vasireddy, et al.
Investigative Ophthalmology & Visual Science|October 30, 2018
RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod FunctionTomas S Aleman, Katherine E Uyhazi, Leona W Serrano, et al.
The Journal of Gene Medicine|November 20, 2002
Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VIThucanh T Ho, Albert M Maguire, Gustavo D Aguirre, et al.
Molecular & Cellular Proteomics : MCP|April 14, 2005
Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16Zhibing Zhang, Brian H Jones, Waixing Tang, et al.
Gene Therapy|February 16, 2021
Rescue of retinal ganglion cells in optic nerve injury using cell-selective AAV mediated delivery of SIRT1Ahmara G Ross, Devin S McDougald, Reas S Khan, et al.
Nature Communications|April 1, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associationsAnton Safonov, Tomoki T Nomakuchi, Elizabeth Chao, et al.
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