|
| 36908234 | Typical best vitelliform dystrophy secondary to biallelic variants in BEST1. | Ophthalmic Genet | 2024 |
| 37806544 | IMPG2-Related Maculopathy. | Am J Ophthalmol | 2024 |
| 37806543 | RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. | Am J Ophthalmol | 2024 |
| 37924416 | Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms. | Doc Ophthalmol | 2024 |
| 36084042 | Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. | Hum Mol Genet | 2023 |
| 37852740 | <i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3. | Br J Ophthalmol | 2023 |
| 37544434 | Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management. | Ophthalmology | 2023 |
| 37868789 | Visual Acuity by Decade in 139 Males with <i>RPGR</i>-Associated Retinitis Pigmentosa. | Ophthalmol Sci | 2023 |
| 35439212 | Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy. | J Neuroophthalmol | 2023 |
| 37422204 | Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome. | Am J Ophthalmol | 2023 |
| 37342033 | An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank. | Invest Ophthalmol Vis Sci | 2023 |
| 37333224 | Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders. | bioRxiv | 2023 |
| 37331655 | CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History. | Ophthalmol Retina | 2023 |
| 37331482 | Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care. | Ophthalmology | 2023 |
| 36848389 | Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation. | PLoS Genet | 2023 |
| 36910710 | Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>C. | Mol Ther Nucleic Acids | 2023 |
| 36423731 | RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History. | Ophthalmology | 2023 |
| 36940949 | Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). | BMJ Open | 2023 |
| 35934205 | Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene. | Ophthalmology | 2023 |
| 36099972 | CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. | Am J Ophthalmol | 2023 |
| 36322320 | No strong evidence to date for an association between RIMS1 and retinal dystrophy. | Doc Ophthalmol | 2023 |
| 32541437 | MONOZYGOTIC TWINS DISCORDANT FOR ASYMMETRIC PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY. | Retin Cases Brief Rep | 2022 |
| 35616092 | Variability of retinopathy consequent upon novel mutations in LAMA1. | Ophthalmic Genet | 2022 |
| 35704304 | Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases. | Invest Ophthalmol Vis Sci | 2022 |
| 35469785 | WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. | Am J Ophthalmol | 2022 |
| 35594404 | Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia. | Proc Natl Acad Sci U S A | 2022 |
| 36685715 | SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease. | Ophthalmol Sci | 2022 |
| 36178783 | Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography. | Transl Vis Sci Technol | 2022 |
| 35947379 | Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1. | Invest Ophthalmol Vis Sci | 2022 |
| 35099396 | Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study. | JMIR Form Res | 2022 |
| 34924522 | Vessel Volume Rendering Quantifies Disease Conversion and Progression in Leber Hereditary Optic Neuropathy. | J Neuroophthalmol | 2022 |
| 34822951 | X-Linked Retinoschisis: Deep Phenotyping and Genetic Characterization. | Ophthalmology | 2022 |
| 34425733 | A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. | Ophthalmic Genet | 2022 |
| 34303686 | Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy. | Am J Ophthalmol | 2022 |
| 34301612 | Foveal structure and visual function in nanophthalmos and posterior microphthalmos. | Br J Ophthalmol | 2022 |
| 32806950 | Long-term follow-up of a case of posterior microphthalmos (PRSS56) with hyperautofluorescent retinal pigment epithelial deposits. | Eur J Ophthalmol | 2022 |
| 32467628 | Prospective deep phenotyping of choroideremia patients using multimodal structure-function approaches. | Eye (Lond) | 2021 |
| 33847019 | CNGB1-related rod-cone dystrophy: A mutation review and update. | Hum Mutat | 2021 |
| 33737031 | KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. | Am J Ophthalmol | 2021 |
| 33840784 | AN ASSOCIATION BETWEEN STELLATE NONHEREDITARY IDIOPATHIC FOVEOMACULAR RETINOSCHISIS, PERIPHERAL RETINOSCHISIS, AND POSTERIOR HYALOID ATTACHMENT. | Retina | 2021 |
| 33749171 | Panel-based genetic testing for inherited retinal disease screening 176 genes. | Mol Genet Genomic Med | 2021 |
| 33498813 | Novel Biallelic Variants and Phenotypic Features in Patients with <i>SLC38A8</i>-Related Foveal Hypoplasia. | Int J Mol Sci | 2021 |
| 34905022 | SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance. | Invest Ophthalmol Vis Sci | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34466801 | Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. | Brain Commun | 2021 |
| 34251956 | A Novel Pathogenic <i>NOD2</i> Variant in a Mother and Daughter with Blau Syndrome. | Ophthalmic Genet | 2021 |
| 34223797 | Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. | Ophthalmic Genet | 2021 |
| 34188062 | Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. | NPJ Genom Med | 2021 |
| 33938912 | Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. | Invest Ophthalmol Vis Sci | 2021 |
| 34368462 | Prevalence of electronegative electroretinograms in a healthy adult cohort. | BMJ Open Ophthalmol | 2021 |