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DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma.
- Published in:
- Ophthalmic Genetics, 2018, v. 39, n. 2, p. 221, doi. 10.1080/13816810.2017.1413659
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- Publication type:
- Article
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
- Published in:
- Ophthalmic Genetics, 2017, v. 38, n. 2, p. 171, doi. 10.3109/13816810.2016.1164195
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- Publication type:
- Article
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9268911
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- Publication type:
- Article
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2170, doi. 10.1002/humu.24482
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- Publication type:
- Article
Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. 435, doi. 10.1002/humu.22260
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- Publication type:
- Article
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995
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- Publication type:
- Article
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9501
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- Publication type:
- Article
Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37388-8
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- Publication type:
- Article
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
- Published in:
- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1890-0
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- Publication type:
- Article
Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility.
- Published in:
- British Journal of Cancer, 2024, v. 130, n. 3, p. 347, doi. 10.1038/s41416-023-02485-7
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- Publication type:
- Article
Identifying Genetic Risk Factors for Diabetic Macular Edema and the Response to Treatment.
- Published in:
- Journal of Diabetes Research, 2020, p. 1, doi. 10.1155/2020/5016916
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- Publication type:
- Article
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199178
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- Publication type:
- Article
Human Lipoxygenase Pathway Gene Variation and Association with Markers of Subclinical Atherosclerosis in the Diabetes Heart Study.
- Published in:
- Mediators of Inflammation, 2010, v. 2010, p. 1, doi. 10.1155/2010/170153
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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
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
Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0475-4
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- Publication type:
- Article
Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy.
- Published in:
- Diabetes & Vascular Disease Research, 2016, v. 13, n. 2, p. 164, doi. 10.1177/1479164115616902
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- Publication type:
- Article
Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study.
- Published in:
- Diabetes & Vascular Disease Research, 2008, v. 5, n. 2, p. 128, doi. 10.3132/dvdr.2008.021
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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
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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- Publication type:
- Article
Ocular Expression and Distribution of Products of the POAG-Associated Chromosome 9p21 Gene Region.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075067
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- Publication type:
- Article
Mutations in the <i>EPHA2</i> Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072518
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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
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
Sequence Variation in DDAH1 and DDAH2 Genes Is Strongly and Additively Associated with Serum ADMA Concentrations in Individuals with Type 2 Diabetes.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009462
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- Publication type:
- Article
A Systematic Meta-Analysis of Genetic Association Studies for Diabetic Retinopathy.
- Published in:
- Diabetes, 2009, v. 58, n. 9, p. 2137, doi. 10.2337/db09-0059
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- Publication type:
- Article
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0414-7
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- Publication type:
- Article
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.
- Published in:
- 2016
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- Publication type:
- Case Study
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 165, doi. 10.1186/1471-2350-11-165
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- Publication type:
- Article
Pooled genome wide association detects association upstream of FCRL3 with Graves' disease.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3276-z
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- Publication type:
- Article
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722
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- Publication type:
- Article
The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus.
- Published in:
- 2022
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- Publication type:
- journal article
Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 5, p. 1, doi. 10.1371/journal.pgen.1000947
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- Publication type:
- Article
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023
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- Publication type:
- Article
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 555, doi. 10.1002/mgg3.406
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- Publication type:
- Article
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 624, doi. 10.1002/mgg3.248
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- Publication type:
- Article
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 37924, doi. 10.1038/srep37924
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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
Serum selenium status in Graves' disease with and without orbitopathy: a case-control study.
- Published in:
- Clinical Endocrinology, 2014, v. 80, n. 6, p. 905, doi. 10.1111/cen.12392
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- Publication type:
- Article
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2689, doi. 10.1093/hmg/ddv027
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- Publication type:
- Article
Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 689, doi. 10.1038/ng0615-689c
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- Publication type:
- Article
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 387, doi. 10.1038/ng.3226
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- Publication type:
- Article
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1120, doi. 10.1038/ng.3079
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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
Association of Protein Tyrosine Phosphatase-N1 Polymorphisms With Coronary Calcified Plaque in the Diabetes Heart Study.
- Published in:
- Diabetes, 2006, v. 55, n. 3, p. 651, doi. 10.2337/diabetes.55.03.06.db05-0058
- By:
- Publication type:
- Article
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-022-04323-7
- By:
- Publication type:
- Article
Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy.
- Published in:
- Clinical & Experimental Ophthalmology, 2019, v. 47, n. 8, p. 1028, doi. 10.1111/ceo.13569
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- Publication type:
- Article
Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non‐Indigenous Australians in South Australia and the Northern Territory.
- Published in:
- Clinical & Experimental Ophthalmology, 2018, v. 46, n. 4, p. 417, doi. 10.1111/ceo.13083
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- Publication type:
- Article