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| 37126360 | IMI-Management and Investigation of High Myopia in Infants and Young Children. | Invest Ophthalmol Vis Sci | 2023 |
| 37372373 | A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in <i>RS1</i>, and Skewed X-Inactivation. | Genes (Basel) | 2023 |
| 37333224 | Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders. | bioRxiv | 2023 |
| 36420660 | Retinopathy and optic atrophy in a case of <i>COQ2</i>-related primary coenzyme Q<sub>10</sub> deficiency. | Ophthalmic Genet | 2023 |
| 35929373 | Extensive myelinated retinal nerve fibres and bilateral foveal hypoplasia: A specific clinical entity. | Acta Ophthalmol | 2023 |
| 34345029 | Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. | Eye (Lond) | 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 |
| 35781068 | Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results. | Ophthalmol Retina | 2022 |
| 35908243 | Optogenetic approaches to therapy for inherited retinal degenerations. | J Physiol | 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 |
| 33495162 | Association of ambient air pollution with age-related macular degeneration and retinal thickness in UK Biobank. | Br J Ophthalmol | 2022 |
| 30074570 | PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. | Retin Cases Brief Rep | 2021 |
| 33745530 | Mitochondrial Disorders and the Eye: A New Era for Diagnosis. | Ophthalmology | 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 |
| 34653402 | Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model. | Stem Cell Reports | 2021 |
| 33938912 | Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. | Invest Ophthalmol Vis Sci | 2021 |
| 34260948 | Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations. | Am J Hum Genet | 2021 |
| 34087997 | Transcription factor overexpression drives reliable differentiation of retinal pigment epithelium from human induced pluripotent stem cells. | Stem Cell Res | 2021 |
| 33144691 | Response to: Comment on: Dark without pressure retinal changes in a paediatric age group. | Eye (Lond) | 2021 |
| 33111992 | Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome. | Laryngoscope | 2021 |
| 33137351 | Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy. | Ophthalmology | 2021 |
| 32860923 | The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. | Prog Retin Eye Res | 2021 |
| 32690924 | Dark without pressure retinal changes in a paediatric age group. | Eye (Lond) | 2021 |
| 32367006 | Congenital focal abnormalities of the retina and retinal pigment epithelium. | Eye (Lond) | 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 |
| 33243271 | The genetic landscape of crystallins in congenital cataract. | Orphanet J Rare Dis | 2020 |
| 32799327 | Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. | Clin Genet | 2020 |
| 32821523 | Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration. | Transl Vis Sci Technol | 2020 |
| 32340307 | An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. | Genes (Basel) | 2020 |
| 32217542 | Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches. | Br J Ophthalmol | 2020 |
| 32384692 | Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. | Genes (Basel) | 2020 |
| 32202185 | A novel missense mutation in <i>LIM2</i> causing isolated autosomal dominant congenital cataract. | Ophthalmic Genet | 2020 |
| 32423767 | Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. | Ophthalmology | 2020 |
| 29300249 | PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort. | Retina | 2019 |
| 30097992 | Cobalamin D Deficiency Identified Through Newborn Screening. | JIMD Rep | 2019 |
| 31298765 | SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. | Ann Neurol | 2019 |
| 31237654 | Characterization of Retinal Structure in ATF6-Associated Achromatopsia. | Invest Ophthalmol Vis Sci | 2019 |
| 31231240 | Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans. | Front Physiol | 2019 |
| 31192531 | Delineating the expanding phenotype associated with SCAPER gene mutation. | Am J Med Genet A | 2019 |
| 30768223 | Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma. | Ophthalmic Surg Lasers Imaging Retina | 2019 |
| 31077665 | Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. | Am J Ophthalmol | 2019 |
| 30679166 | Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy. | Br J Ophthalmol | 2019 |
| 30291136 | Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa. | Br J Ophthalmol | 2019 |
| 30597758 | Unilateral pigmentary retinopathy: a retrospective case series. | Acta Ophthalmol | 2019 |
| 28844051 | Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK. | Br J Ophthalmol | 2018 |
| 30157172 | Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. | PLoS Genet | 2018 |
| 29934635 | Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. | Eye (Lond) | 2018 |