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| 37714431 | Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort. | Ophthalmol Retina | 2024 |
| 37806543 | RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. | Am J 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 |
| 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 |
| 37217489 | Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. | NPJ Genom Med | 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 |
| 36940949 | Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). | BMJ Open | 2023 |
| 36669873 | EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders. | J Med Genet | 2023 |
| 35934205 | Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene. | Ophthalmology | 2023 |
| 36322320 | No strong evidence to date for an association between RIMS1 and retinal dystrophy. | Doc Ophthalmol | 2023 |
| 34031043 | Novel disease-causing variant in <i>RDH12</i> presenting with autosomal dominant retinitis pigmentosa. | Br J Ophthalmol | 2022 |
| 35616092 | Variability of retinopathy consequent upon novel mutations in LAMA1. | Ophthalmic Genet | 2022 |
| 35469785 | WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. | Am J Ophthalmol | 2022 |
| 35486108 | Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. | Genet Med | 2022 |
| 36178783 | Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography. | Transl Vis Sci Technol | 2022 |
| 35934592 | Phenotype-aware prioritisation of rare Mendelian disease variants. | Trends Genet | 2022 |
| 36326727 | Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. | Invest Ophthalmol Vis Sci | 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 |
| 36343451 | Analysis of the geological control on the spatial distribution of potentially toxic concentrations of As and F<sup>-</sup> in groundwater on a Pan-European scale. | Ecotoxicol Environ Saf | 2022 |
| 35090285 | Assessment of chloride natural background levels by applying statistical approaches. Analyses of European coastal aquifers in different environments. | Mar Pollut Bull | 2022 |
| 34425733 | A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. | Ophthalmic Genet | 2022 |
| 32679203 | Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients. | Ophthalmol Retina | 2021 |
| 33737031 | KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. | Am J Ophthalmol | 2021 |
| 33749171 | Panel-based genetic testing for inherited retinal disease screening 176 genes. | Mol Genet Genomic Med | 2021 |
| 34905022 | SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance. | Invest Ophthalmol Vis Sci | 2021 |
| 34466801 | Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. | Brain Commun | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34188062 | Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. | NPJ Genom Med | 2021 |
| 33968938 | Long-Read Sequencing to Unravel Complex Structural Variants of <i>CEP78</i> Leading to Cone-Rod Dystrophy and Hearing Loss. | Front Cell Dev Biol | 2021 |
| 33938912 | Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. | Invest Ophthalmol Vis Sci | 2021 |
| 33309813 | KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. | Am J Ophthalmol | 2021 |
| 33137351 | Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy. | Ophthalmology | 2021 |
| 33293084 | Evaluation of natural background levels of high mountain karst aquifers in complex hydrogeological settings. A Gaussian mixture model approach in the Port del Comte (SE, Pyrenees) case study. | Sci Total Environ | 2021 |
| 32860923 | The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. | Prog Retin Eye Res | 2021 |
| 32681094 | A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy. | Eye (Lond) | 2021 |
| 32707201 | Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2. | Am J Ophthalmol | 2021 |
| 31570810 | Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa. | Eye (Lond) | 2020 |
| 31704230 | GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. | Am J Ophthalmol | 2020 |
| 31992737 | The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. | Sci Rep | 2020 |
| 31804667 | Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy. | JAMA Ophthalmol | 2020 |
| 33137882 | Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance. | Genes (Basel) | 2020 |
| 32770643 | A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. | Am J Med Genet C Semin Med Genet | 2020 |
| 32653833 | Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease. | Mol Ther Nucleic Acids | 2020 |
| 32821499 | Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with <i>GUCY2D</i>-Associated Retinal Disorder. | Transl Vis Sci Technol | 2020 |
| 32820593 | Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population. | Am J Med Genet C Semin Med Genet | 2020 |
| 33015543 | Practical guide to genetic screening for inherited eye diseases. | Ther Adv Ophthalmol | 2020 |
| 32875684 | RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. | Am J Med Genet C Semin Med Genet | 2020 |