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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Nature genetics, 2014-10, Vol.46 (10), p.1120-1125

2014

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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

The Journal of clinical investigation, 2022-12, Vol.132 (23), p.1-15

2022

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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Ophthalmology (Rochester, Minn.), 2020-06, Vol.127 (6), p.758-766

2020

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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

Ophthalmology (Rochester, Minn.), 2021-11, Vol.128 (11), p.1549-1560

2021

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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

Scientific reports, 2024-03, Vol.14 (1), p.5403-5403, Article 5403

2024

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Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

PLoS genetics, 2010-05, Vol.6 (5), p.e1000947-e1000947

2010

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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

PLoS genetics, 2020-04, Vol.16 (4), p.e1008721-e1008721

2020

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2010-02, Vol.86 (2), p.248-253

2010

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Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

Ophthalmology (Rochester, Minn.), 2017-03, Vol.124 (3), p.303-309

2017

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Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

Disease models & mechanisms, 2022-12, Vol.15 (12)

2022

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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

American journal of human genetics, 2016-03, Vol.98 (3), p.592-592

2016

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A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Acta neuropathologica communications, 2020-06, Vol.8 (1), p.1-93, Article 93

2020

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Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

PloS one, 2017-03, Vol.12 (3), p.e0172427-e0172427

2017

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Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

Ophthalmology (Rochester, Minn.), 2013-06, Vol.120 (6), p.1135-1143

2013

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Changing trends in the incidence of bleb-related infection in trabeculectomy

British journal of ophthalmology, 2012-07, Vol.96 (7), p.971-975

2012

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X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

American journal of human genetics, 2012-02, Vol.90 (2), p.247-259

2012

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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

PloS one, 2014-08, Vol.9 (8), p.e104163-e104163

2014

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Pathogenic genetic variants identified in Australian families with paediatric cataract

BMJ open ophthalmology, 2022-08, Vol.7 (1), p.e001064

2022

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Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e774-n/a

2019

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Traumatic eye injury from an exploding aerosol can

Medical journal of Australia, 2019-03, Vol.210 (4), p.154-154

2019

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Optical coherence tomography in paediatric clinical practice

Clinical and experimental optometry, 2019-05, Vol.102 (3), p.300-308

2019

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Establishing risk of vision loss in Leber hereditary optic neuropathy

American journal of human genetics, 2021-11, Vol.108 (11), p.2159-2170

2021

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Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

The Journal of clinical investigation, 2016-07, Vol.126 (7), p.2575-2587

2016

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Vascular Changes After Intra-bleb Injection of Bevacizumab

Journal of glaucoma, 2008-10, Vol.17 (7), p.517-518

2008

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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

Changing trends in the incidence of bleb-related infection in trabeculectomy

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

Pathogenic genetic variants identified in Australian families with paediatric cataract

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Traumatic eye injury from an exploding aerosol can

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

Optical coherence tomography in paediatric clinical practice

Establishing risk of vision loss in Leber hereditary optic neuropathy

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Vascular Changes After Intra-bleb Injection of Bevacizumab

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