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| 36399172 | Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9). | Doc Ophthalmol | 2023 |
| 37589989 | GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery. | JAMA Ophthalmol | 2023 |
| 37321343 | Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis. | J AAPOS | 2023 |
| 35112029 | Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations. | Am J Ophthalmol Case Rep | 2022 |
| 35379979 | Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. | Nat Med | 2022 |
| 36477475 | AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis. | PLoS One | 2022 |
| 36636630 | Alström syndrome caused by maternal uniparental disomy. | Am J Ophthalmol Case Rep | 2022 |
| 36700052 | Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model. | Mol Ther Nucleic Acids | 2022 |
| 36249682 | Restoration of Cone Sensitivity to Individuals with Congenital Photoreceptor Blindness within the Phase 1/2 Sepofarsen Trial. | Ophthalmol Sci | 2022 |
| 36125046 | Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model. | Dis Model Mech | 2022 |
| 33432855 | The evolving role of genetics in ophthalmology. | Ophthalmic Genet | 2021 |
| 33798654 | Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years. | Ophthalmology | 2021 |
| 34940782 | Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. | Invest Ophthalmol Vis Sci | 2021 |
| 34251969 | Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. | Ophthalmic Genet | 2021 |
| 34303879 | Endothelial BBSome is essential for vascular, metabolic, and retinal functions. | Mol Metab | 2021 |
| 34173938 | Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations. | Doc Ophthalmol | 2021 |
| 34111268 | Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure. | Transl Vis Sci Technol | 2021 |
| 34280564 | Clinical phenocopies of albinism. | J AAPOS | 2021 |
| 32281467 | Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. | Ophthalmic Genet | 2020 |
| 30559420 | Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect. | Nat Med | 2019 |
| 31496370 | Efficacy of topical brinzolamide in children with retinal dystrophies. | Ophthalmic Genet | 2019 |
| 31233830 | Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. | J AAPOS | 2019 |
| 30927186 | Correlation between electroretinography, foveal anatomy and visual acuity in albinism. | Doc Ophthalmol | 2019 |
| 31014769 | Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis. | Ophthalmol Retina | 2019 |
| 29559409 | Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. | Am J Ophthalmol | 2018 |
| 29875267 | α<sub>2</sub>δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses. | J Neurosci | 2018 |
| 29578069 | CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration. | Prog Retin Eye Res | 2018 |
| 29522070 | Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children. | JAMA Ophthalmol | 2018 |
| 27096712 | A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. | Ophthalmic Genet | 2017 |
| 28177850 | What I learned from Irene Hussels Maumenee. | Ophthalmic Genet | 2017 |
| 28177849 | The clinical evaluation of infantile nystagmus: What to do first and why. | Ophthalmic Genet | 2017 |
| 28712537 | Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. | Lancet | 2017 |
| 27400765 | Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration. | Hum Gene Ther | 2016 |
| 27804148 | Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3). | Ann Neurol | 2016 |
| 24547931 | Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). | Ophthalmic Genet | 2015 |
| 26205114 | Gene Therapy for Blinding Pediatric Eye Disorders. | Adv Pediatr | 2015 |
| 26216965 | Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. | Proc Natl Acad Sci U S A | 2015 |
| 25448922 | Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases. | Prog Retin Eye Res | 2015 |
| 25486088 | Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy. | Prog Retin Eye Res | 2015 |
| 25217415 | Vitritis in pediatric genetic retinal disorders. | Ophthalmology | 2015 |
| 25365415 | Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease). | Ophthalmic Genet | 2015 |
| 23943788 | BBS mutations modify phenotypic expression of CEP290-related ciliopathies. | Hum Mol Genet | 2014 |
| 25446321 | Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. | Exp Eye Res | 2014 |
| 24807808 | CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. | Gene Ther | 2014 |
| 24759684 | RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration. | PLoS One | 2014 |
| 24568993 | Strabismus surgery in patients receiving warfarin anticoagulation. | J AAPOS | 2014 |
| 24665005 | Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy. | Hum Mutat | 2014 |
| 24664709 | Is age-related macular degeneration a microvascular disease? | Adv Exp Med Biol | 2014 |
| 24409334 | TRIP8b is required for maximal expression of HCN1 in the mouse retina. | PLoS One | 2014 |
| 23554981 | Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. | PLoS One | 2013 |