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| 35868845 | Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. | Ann Rheum Dis | 2022 |
| 36326727 | Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. | Invest Ophthalmol Vis Sci | 2022 |
| 35475888 | ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease. | Invest Ophthalmol Vis Sci | 2022 |
| 33495304 | <i>DDX58</i>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. | J Med Genet | 2022 |
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| 33345678 | A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. | Ophthalmic Epidemiology | 2021 |
| 33233984 | Response to Finsterer's "Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome". | Ophthalmic Genetics | 2021 |
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| 30674731 | One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B. | JCI Insight | 2019 |
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| 30122538 | Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot. | Am J Hum Genet | 2018 |
| 30398625 | The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density. | Invest Ophthalmol Vis Sci | 2018 |
| 29879289 | Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa: Lessons Learned From a Trial of Valproic Acid. | JAMA Ophthalmology | 2018 |
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| 30381411 | Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. | Science Translational Medicine | 2018 |
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