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AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12210-8
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- Publication type:
- Article
Comparative analysis of loop-mediated isothermal amplification (LAMP)-based assays for rapid detection of SARS-CoV-2 genes.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01472-3
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- Publication type:
- Article
Development of a CRISPRi Human Retinal Pigmented Epithelium Model for Functional Study of Age-Related Macular Degeneration Genes.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3417, doi. 10.3390/ijms24043417
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- Article
Seeing Neurodegeneration in a New Light Using Genetically Encoded Fluorescent Biosensors and iPSCs.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1766, doi. 10.3390/ijms24021766
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- Publication type:
- Article
Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 4042, doi. 10.3390/ijms23074042
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- Article
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023
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- Article
A Geometric Morphometric Assessment of Hand Shape and Comparison to the 2D:4D Digit Ratio as a Marker of Sexual Dimorphism.
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- Twin Research & Human Genetics, 2013, v. 16, n. 2, p. 590, doi. 10.1017/thg.2013.5
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- Article
Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error.
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- Twin Research & Human Genetics, 2012, v. 15, n. 5, p. 624, doi. 10.1017/thg.2012.22
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- Article
The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (biometry of the bounty).
- Published in:
- 2011
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- Publication type:
- journal article
Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins.
- Published in:
- 2009
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- Publication type:
- journal article
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
- Published in:
- Alzheimer's Research & Therapy, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13195-018-0400-0
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- Publication type:
- Article
Electrical Stimulation Promotes Cardiac Differentiation of Human Induced Pluripotent Stem Cells.
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- Thrombosis, 2015, p. 1, doi. 10.1155/2016/1718041
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- Publication type:
- Article
Cardiac Repair With a Novel Population of Mesenchymal Stem Cells Resident in the Human Heart.
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- Stem Cells, 2015, v. 33, n. 10, p. 3100, doi. 10.1002/stem.2101
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- Publication type:
- Article
A single‐cell transcriptome atlas of the adult human retina.
- Published in:
- EMBO Journal, 2019, v. 38, n. 18, p. N.PAG, doi. 10.15252/embj.2018100811
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- Publication type:
- Article
MODELLING ALZHEIMER’S DISEASE USING HUMAN CORTICAL CEREBRAL ORGANOIDS.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1482, doi. 10.1016/j.jalz.2017.07.559
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- Publication type:
- Article
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
- Published in:
- Nature Genetics, 2013, v. 45, n. 6, p. 712, doi. 10.1038/ng0613-712b
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- Publication type:
- Article
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 314, doi. 10.1038/ng.2554
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- Publication type:
- Article
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 155, doi. 10.1038/ng.2506
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- Publication type:
- Article
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 574, doi. 10.1038/ng.824
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- Publication type:
- Article
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 906, doi. 10.1038/ng.661
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- Publication type:
- Article
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.
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- Nature Genetics, 2010, v. 42, n. 10, p. 902, doi. 10.1038/ng.664
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- Publication type:
- Article
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.
- Published in:
- 2018
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- Publication type:
- Abstract
propeller: testing for differences in cell type proportions in single cell data.
- Published in:
- Bioinformatics, 2022, v. 38, n. 20, p. 4720, doi. 10.1093/bioinformatics/btac582
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- Publication type:
- Article
Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice.
- Published in:
- International Journal of Retina & Vitreous, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40942-023-00453-0
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- Publication type:
- Article
Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration.
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- European Journal of Epidemiology, 2020, v. 35, n. 2, p. 139, doi. 10.1007/s10654-019-00598-z
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- Publication type:
- Article
DNA methylation landscape of ocular tissue relative to matched peripheral blood.
- Published in:
- Scientific Reports, 2017, p. 46330, doi. 10.1038/srep46330
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- Publication type:
- Article
Enriched retinal ganglion cells derived from human embryonic stem cells.
- Published in:
- Scientific Reports, 2016, p. 30552, doi. 10.1038/srep30552
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- Publication type:
- Article
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 26885, doi. 10.1038/srep26885
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- Publication type:
- Article
A village in a dish model system for population-scale hiPSC studies.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38704-1
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- Publication type:
- Article
Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02293-3
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- Publication type:
- Article
Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140919
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- Article
Benchmarking Undedicated Cloud Computing Providers for Analysis of Genomic Datasets.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0108490
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- Publication type:
- Article
Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067903
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- Publication type:
- Article
Genome-Wide Association Study of Retinopathy in Individuals without Diabetes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0054232
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- Publication type:
- Article
Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053830
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- Publication type:
- Article
The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045613
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- Publication type:
- Article
Ethnic and Mouse Strain Differences in Central Corneal Thickness and Association with Pigmentation Phenotype.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022103
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- Publication type:
- Article
Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021347
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- Publication type:
- Article
Uteroglobin and FLRG concentrations in aqueous humor are associated with age in primary open angle glaucoma patients.
- Published in:
- 2018
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- Publication type:
- journal article
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 5, p. 1, doi. 10.1371/journal.pgen.1009497
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- Publication type:
- Article
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
- Published in:
- Human Genetics, 2010, v. 127, n. 1, p. 33, doi. 10.1007/s00439-009-0729-3
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- Publication type:
- Article
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.
- Published in:
- Human Genetics, 2008, v. 124, n. 4, p. 379, doi. 10.1007/s00439-008-0555-z
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- Publication type:
- Article
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 632, doi. 10.1038/ejhg.2011.248
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- Publication type:
- Article
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0634-9
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- Publication type:
- Article
Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma.
- Published in:
- 2023
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- Publication type:
- journal article
Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.
- Published in:
- 2022
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- Publication type:
- journal article
Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma.
- Published in:
- 2021
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- Publication type:
- journal article
Predicting the Future of Genetic Risk Profiling of Glaucoma: A Narrative Review.
- Published in:
- 2021
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- Publication type:
- journal article
Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.
- Published in:
- 2020
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- Publication type:
- journal article
Association of Genetic Variation With Keratoconus.
- Published in:
- 2020
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- Publication type:
- journal article