|
| 37094835 | Deep-learning automated quantification of longitudinal OCT scans demonstrates reduced RPE loss rate, preservation of intact macular area and predictive value of isolated photoreceptor degeneration in geographic atrophy patients receiving C3 inhibition treatment. | Br J Ophthalmol | 2024 |
| 37806543 | RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping. | Am J Ophthalmol | 2024 |
| 37977507 | RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. | Am J Ophthalmol | 2024 |
| 36379322 | Reply to Comment on: Personalized model to predict keratoconus progression from demographic, topographic and genetic data. | Am J Ophthalmol | 2023 |
| 37715860 | Evaluating the Effects of C3 Inhibition on Geographic Atrophy Progression from Deep-Learning OCT Quantification: A Split-Person Study. | Ophthalmol Ther | 2023 |
| 37852740 | <i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3. | Br J Ophthalmol | 2023 |
| 37160501 | Artificial intelligence in retinal disease: clinical application, challenges, and future directions. | Graefes Arch Clin Exp Ophthalmol | 2023 |
| 37088692 | Development and international validation of custom-engineered and code-free deep-learning models for detection of plus disease in retinopathy of prematurity: a retrospective study. | Lancet Digit Health | 2023 |
| 36947045 | Association Between Retinal Features From Multimodal Imaging and Schizophrenia. | JAMA Psychiatry | 2023 |
| 36971111 | Classification of Lapses in Smokers Attempting to Stop: A Supervised Machine Learning Approach Using Data From a Popular Smoking Cessation Smartphone App. | Nicotine Tob Res | 2023 |
| 36883248 | Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy. | Acta Ophthalmol | 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 |
| 34345029 | Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. | Eye (Lond) | 2022 |
| 35736209 | A recurrent variant in <i>LIM2</i> causes an isolated congenital sutural/lamellar cataract in a Japanese family. | Ophthalmic Genet | 2022 |
| 35705716 | The GA4GH Phenopacket schema defines a computable representation of clinical data. | Nat Biotechnol | 2022 |
| 35469790 | Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data. | 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 |
| 35934592 | Phenotype-aware prioritisation of rare Mendelian disease variants. | Trends Genet | 2022 |
| 36038634 | Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility. | Nat Genet | 2022 |
| 35931051 | Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. | Am J Hum Genet | 2022 |
| 36114218 | Prediction of visual function from automatically quantified optical coherence tomography biomarkers in patients with geographic atrophy using machine learning. | Sci Rep | 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 |
| 34913967 | Enablers and Barriers to Deployment of Smartphone-Based Home Vision Monitoring in Clinical Practice Settings. | JAMA Ophthalmol | 2022 |
| 35174971 | Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy. | Acta Ophthalmol | 2022 |
| 35296488 | AlzEye: longitudinal record-level linkage of ophthalmic imaging and hospital admissions of 353â¿¿157 patients in London, UK. | BMJ Open | 2022 |
| 34748434 | Pathogenic variants in the <i>CYP21A2</i> gene cause isolated autosomal dominant congenital posterior polar cataracts. | Ophthalmic Genet | 2022 |
| 34711487 | Fractionated Stereotactic Radiation Therapy for Pituitary Adenomas: An alternative escalating protocol of hypofractionated stereotactic radiotherapy delivering 35Gy in 5 fractions. | Cancer Radiother | 2022 |
| 32707201 | Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2. | Am J Ophthalmol | 2021 |
| 33879469 | Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. | Br J Ophthalmol | 2021 |
| 33654266 | Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder. | Commun Biol | 2021 |
| 33737031 | KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2. | Am J Ophthalmol | 2021 |
| 33712029 | Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy. | Orphanet J Rare Dis | 2021 |
| 33649486 | A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. | Commun Biol | 2021 |
| 33837246 | Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder. | Commun Biol | 2021 |
| 33749171 | Panel-based genetic testing for inherited retinal disease screening 176 genes. | Mol Genet Genomic Med | 2021 |
| 34898463 | Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review. | JMIR Med Inform | 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 |
| 34509423 | Clinically relevant deep learning for detection and quantification of geographic atrophy from optical coherence tomography: a model development and external validation study. | Lancet Digit Health | 2021 |
| 33986429 | Predicting sex from retinal fundus photographs using automated deep learning. | Sci Rep | 2021 |
| 33946386 | Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function <i>ZEB1</i> Alleles. | Genes (Basel) | 2021 |
| 33309813 | KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1. | Am J Ophthalmol | 2021 |
| 33039401 | Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials. | Ophthalmology | 2021 |
| 32860923 | The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. | Prog Retin Eye Res | 2021 |
| 32968219 | Exploring the potential for acute anterior uveitis (AAU) patients to self-manage recurrences via a mobile application: qualitative analysis of a Moorfields Patient Experience focus group. | Eye (Lond) | 2021 |
| 31201376 | CUGC for posterior polymorphous corneal dystrophy (PPCD). | Eur J Hum Genet | 2020 |
| 31704230 | GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. | Am J Ophthalmol | 2020 |