Search details
1.
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Hum Mol Genet
; 2023 Oct 31.
Article
in English
| MEDLINE | ID: mdl-37930186
2.
Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration.
Hum Mol Genet
; 31(14): 2406-2423, 2022 07 21.
Article
in English
| MEDLINE | ID: mdl-35181781
3.
Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.
Hum Mol Genet
; 31(5): 775-782, 2022 03 03.
Article
in English
| MEDLINE | ID: mdl-34590675
4.
Transcriptomic and Chromatin Accessibility Analysis of the Human Macular and Peripheral Retinal Pigment Epithelium at the Single-Cell Level.
Am J Pathol
; 193(11): 1750-1761, 2023 11.
Article
in English
| MEDLINE | ID: mdl-36775060
5.
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Ophthalmology
; 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38309476
6.
Characterization of a novel Pde6b-deficient rat model of retinal degeneration and treatment with adeno-associated virus (AAV) gene therapy.
Gene Ther
; 30(3-4): 362-368, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36175490
7.
Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.
Hum Mol Genet
; 30(16): 1543-1558, 2021 07 28.
Article
in English
| MEDLINE | ID: mdl-34014299
8.
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy.
Am J Hum Genet
; 107(2): 278-292, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32707085
9.
Automating iPSC generation to enable autologous photoreceptor cell replacement therapy.
J Transl Med
; 21(1): 161, 2023 02 28.
Article
in English
| MEDLINE | ID: mdl-36855199
10.
Local factor H production by human choroidal endothelial cells mitigates complement deposition: implications for macular degeneration.
J Pathol
; 257(1): 29-38, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35038170
11.
MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION.
Retina
; 43(7): 1165-1173, 2023 07 01.
Article
in English
| MEDLINE | ID: mdl-36930890
12.
Development and biological characterization of a clinical gene transfer vector for the treatment of MAK-associated retinitis pigmentosa.
Gene Ther
; 29(5): 259-288, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34518651
13.
Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.
Proc Natl Acad Sci U S A
; 116(4): 1353-1360, 2019 01 22.
Article
in English
| MEDLINE | ID: mdl-30622176
14.
Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration.
Proc Natl Acad Sci U S A
; 116(48): 24100-24107, 2019 11 26.
Article
in English
| MEDLINE | ID: mdl-31712411
15.
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
BMC Genomics
; 22(1): 477, 2021 Jun 26.
Article
in English
| MEDLINE | ID: mdl-34174832
16.
Choriocapillaris Degeneration in Geographic Atrophy.
Am J Pathol
; 189(7): 1473-1480, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31051169
17.
Bulk and single-cell gene expression analyses reveal aging human choriocapillaris has pro-inflammatory phenotype.
Microvasc Res
; 131: 104031, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32531351
18.
Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis.
Exp Eye Res
; 200: 108204, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32910939
19.
Primary congenital and developmental glaucomas.
Hum Mol Genet
; 26(R1): R28-R36, 2017 08 01.
Article
in English
| MEDLINE | ID: mdl-28549150
20.
The ARMS2 A69S Polymorphism Is Associated with Delayed Rod-Mediated Dark Adaptation in Eyes at Risk for Incident Age-Related Macular Degeneration.
Ophthalmology
; 126(4): 591-600, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30389424