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List of works by Jamie E Craig

A Common Disease Haplotype for the Q368STOP Mutation of the Myocilin Gene in Australian and Canadian Glaucoma Families

scientific article

A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant

scientific article

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

scientific article

A common variant near TGFBR3 is associated with primary open angle glaucoma.

scientific article published on 10 April 2015

A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma.

scientific article

A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes

article

A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.

scientific article

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

scientific article published on February 2006

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

scientific article

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

scientific article published in July 2007

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family

scientific article published in February 2009

A novel locus for X-linked congenital cataract on Xq24.

scientific article published on 18 April 2008

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

scientific article

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.

scientific article

A polygenic risk score predicts intraocular pressure readings outside office hours and early morning spikes as measured by home tonometry

scientific article published on 11 December 2020

A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients

article by Georgia Kaidonis et al published August 2016 in Acta Diabetologica

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

scientific article

A systematic meta-analysis of genetic association studies for diabetic retinopathy

scientific article published on 08 July 2009

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

scientific article published on 30 January 2015

Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania

scientific article published on 01 July 2000

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

scientific article published in August 2015

Advances in telemetric continuous intraocular pressure assessment.

scientific article published on 24 February 2009

Aetiology of congenital and paediatric cataract in an Australian population

scientific article published on July 2002

Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility. ⬇️

scientific article

An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell Research.

scientific article published in March 2016

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity

scientific article published on 07 January 2020

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

scientific article published on 15 February 2018

Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

scientific article

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

scientific article published in May 1999

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study

scientific article published in October 2004

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people

article

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

scientific article published on 06 June 2016

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

scientific article published on 6 November 2017

Anterior segment optical coherence tomography in the investigation of an unusual case of entoptic phenomenon

scientific article published on 01 November 2008

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

scientific article published on 5 September 2008

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.

scientific article published on 31 May 2016

Association between erythropoietin gene polymorphisms and diabetic retinopathy

scientific article published in January 2010

Association of Genetic Variation With Keratoconus

scientific article published on 19 December 2019

Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study

scientific article published on 30 April 2020

Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy

scientific article published on June 2016

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process

scientific article

Association of Visual Impairment and All-Cause 10-Year Mortality Among Indigenous Australian Individuals Within Central Australia: The Central Australian Ocular Health Study.

scientific article

Association of disease-specific causes of visual impairment and 10-year mortality amongst Indigenous Australians: the Central Australian Ocular Health Study

scientific article published on 16 June 2017

Association of eNOS polymorphisms with primary angle-closure glaucoma

scientific article published in March 2013

Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.

scientific article

Association of genetic variants with primary angle closure glaucoma in two different populations

scientific article

Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study

scientific article

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

scientific article published on 31 October 2011

Atomic force microscopy-based antibody recognition imaging of proteins in the pathological deposits in pseudoexfoliation syndrome

scientific article published on 21 March 2011

Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family

scientific article published in August 2004

Audible clicking on blinking: an adverse effect of topical prostaglandin analogue medication

scientific article published on 21 November 2016

Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment

scientific article published in August 2012

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

scientific article published in Nature Communications

Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population.

scientific article published in November 2016

Automated volumetric evaluation of stereoscopic disc photography

scientific article

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

scientific article published on 15 February 2007

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

scientific article published on 21 September 2019

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

scientific article published on 07 January 2020

Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature

scientific article published on 16 June 2020

Bilateral simultaneous acute angle closure glaucoma precipitated by non-prescription cold and flu medication.

scientific article published on October 2010

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

scientific article published on 17 March 2016

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

scientific article published in October 2002

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

scientific article

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness

scientific article

Cardiovascular Disease predicts structural and functional progression in early glaucoma

scientific article published on 27 July 2020

Causes of Severe Visual Impairment and Blindness: Comparative Data From Bhutanese and Laotian Schools for the Blind.

scientific article

Central Australian Ocular Health Study: design and baseline description of participants.

scientific article published on 26 February 2010

Central corneal thickness is highly heritable: the twin eye studies.

scientific article

Central corneal thickness of indigenous Australians within Central Australia

scientific article published on 19 October 2006

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter

scientific article

Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review.

scientific article published on 30 October 2013

Classic features of multiple endocrine neoplasia type 2B

scientific article published on 01 February 2007

Clinical comparison of the Icare tonometer and Goldmann applanation tonometry

scientific article

Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema

article

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

scientific article

Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy

scientific article published on 24 June 2009

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

scientific article

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

scientific article published on 12 September 2010

Complex genetics of complex traits: the case of primary open-angle glaucoma

scientific article published on July 2006

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma ⬇️

scientific article published on December 28, 2012

Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family

article

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer.

scientific article

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

scientific article published on March 2017

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

scientific article

Corneal stiffness parameters are predictive of structural and functional progression in glaucoma suspects

scientific article published on 24 November 2020

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

scientific article published in June 2015

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

scientific article

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

scientific article published on 15 February 2018

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

scientific article published on 21 December 2017

DNA methylation landscape of ocular tissue relative to matched peripheral blood

scientific article

Decompression retinopathy and corneal oedema following Nd:YAG laser peripheral iridotomy

scientific article published on 01 March 2006

Delayed onset panuveitis following intravitreal aflibercept injection.

scientific article

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

scientific article

Detecting protein aggregates on untreated human tissue samples by atomic force microscopy recognition imaging

scientific article

Determination of retinal nerve fibre layer (RNFL) and ganglion cell/inner plexiform layers progression rates using two optical coherence tomography systems - the PROGRESSA study

scientific article published on 09 July 2020

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

scientific article published on 01 July 2019

Diabetic macular oedema: clinical risk factors and emerging genetic influences.

scientific article

Diabetic retinopathy is associated with elevated serum asymmetric and symmetric dimethylarginines

scientific article published on 12 August 2009

Differential Gene Expression Profiling of Orbital Adipose Tissue in Thyroid Orbitopathy

scientific article published in October 2015

Disease severity of familial glaucoma compared with sporadic glaucoma

scientific article published in July 2006

Distribution and associations of intraocular pressure in indigenous Australians within central Australia: the Central Australian Ocular Health Study

scientific article published on 24 March 2011

Does the Association BetweenTMEM98and Nanophthalmos Require Further Confirmation?—Reply

scientific article published in March 2015

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS

scientific article published on 14 January 2016

Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: A prospective multi-site study

scientific article published on 07 February 2020

Efficient capture of high-quality real-world data on treatments for glaucoma: the Fight Glaucoma Blindness! Registry

scientific article published on 05 November 2021

Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma

scientific article published on 18 April 2012

Epha2 genotype influences ultraviolet radiation induced cataract in mice

scientific article published on 17 September 2019

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456

scientific article published on 27 April 2020

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

scientific article published on 9 February 2016

Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype

scientific article

Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

scientific article (publication date: November 2003)

Evidence for a novel glaucoma locus at chromosome 3p21-22

article

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

scientific article

Familial Transmission Risk of Infantile Glaucoma in Australia

article

Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.

scientific article

Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration

scientific article published on 8 February 2008

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants

scientific article published on 24 November 2020

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

scientific article published in June 2016

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome

scientific article published on 22 September 2008

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

scientific article

Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis

scientific article

Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q.

scientific article published on 26 October 2007

Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.

scientific article published on 27 July 2012

Genetic study of diabetic retinopathy: recruitment methodology and analysis of baseline characteristics.

scientific article published on 28 October 2013

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study

scientific article

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

scientific article

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

scientific article published on 06 January 2013

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

scientific article published on 11 January 2016

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology

scientific article published on 01 November 2019

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

scientific article

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

scientific article published on 27 April 2020

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

scientific article published on 28 May 2018

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.

scientific article

Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene

scientific article

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

scientific article

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

scientific article published on 14 February 2018

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

article

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

scientific article published on 30 March 2017

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

scientific article published on 27 July 2018

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

scientific article

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

scientific article

Glaucoma Drainage Device Technique in a Cohort of Experienced Glaucoma Surgeons in Australia and New Zealand

scientific article published on 09 September 2020

Glaucoma in indigenous Australians

scientific article published on 26 July 2011

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

scientific article

Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma

scientific article published on 21 April 2012

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

scientific article

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

scientific article published on 01 November 2017

Hereditary Hyperferritinemia-Cataract Syndrome

scientific article published on 01 December 2003

Heritability of Central Corneal Thickness in Nuclear Families

article

Heritable features of the optic disc: a novel twin method for determining genetic significance

scientific article published in June 2007

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

scientific article published on 24 August 2017

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

scientific article published on 28 February 2013

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

scientific article

How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania

scientific article published on December 2007

Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration

scientific article published on December 2013

Ibopamine challenge test can be used to differentiate glaucoma suspects from glaucoma patients

scientific article published on 08 October 2013

Ibopamine challenge testing becomes negative following successful trabeculectomy surgery

scientific article published on 12 February 2016

Ibopamine challenge testing differentiates glaucoma suspect, stable glaucoma and progressive glaucoma cases

scientific article published on 27 July 2015

Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry

scientific article

Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma

article

Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.

scientific article published on 17 January 2013

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

scientific article published on 16 May 2018

Identifying content for the glaucoma-specific item bank to measure quality-of-life parameters

scientific article

Idiopathic sclerochoroidal calcification in a 79-year-old woman

scientific article published in January 2006

Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis ⬇️

scientific article published on 01 May 1994

Incidence of diabetic retinopathy in indigenous Australians within Central Australia: the Central Australian Ocular Health Study.

scientific article published on 23 December 2011

Incidence of visual impairment and blindness in indigenous Australians within Central Australia: the Central Australian Ocular Health Study

scientific article published on 27 March 2012

Incidence of visual impairment due to cataract, diabetic retinopathy and trachoma in indigenous Australians within central Australia: the Central Australian Ocular Health Study

scientific article

Intravitreal triamcinolone-induced elevated intraocular pressure is associated with the development of posterior subcapsular cataract

scientific article published in January 2005

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

scientific article published on January 2004

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

scientific article

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.

scientific article published on 30 September 2008

Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients

scientific article published on 01 March 2002

Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma

scientific article published in September 2005

Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree

scientific article published on October 2005

Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: A population-based audit-Response

scientific article published on 21 May 2019

Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: a population-based audit

scientific article published on 20 February 2019

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation

scientific article published on 02 January 2019

MALDI MS imaging analysis of apolipoprotein E and lysyl oxidase-like 1 in human lens capsules affected by pseudoexfoliation syndrome.

scientific article

MALDI-MS-imaging of whole human lens capsule.

scientific article

Macular Ganglion Cell–Inner Plexiform Layer Loss Precedes Peripapillary Retinal Nerve Fiber Layer Loss in Glaucoma with Lower Intraocular Pressure

scientific article published on 22 March 2019

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophy

Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population

scientific article

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy

scientific article published on 23 October 2015

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

scientific article published on 28 January 2015

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

scientific article published on 29 March 2016

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

scientific article

MicroRNA-Related Genetic Variants Are Associated With Diabetic Retinopathy in Type 1 Diabetes Mellitus

scientific article published on 01 September 2019

Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample

scientific article published in Scientific Reports

Molecular characterization of a novel 10.3 kb deletion causing beta-thalassaemia with unusually high Hb A2

scientific article published on 01 December 1992

Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'.

scientific article published on 27 February 2009

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control

scientific article published on 28 November 2018

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

scientific article published on 20 January 2020

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

scientific article

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations

scientific article published on 01 September 2002

Mutational analysis of MIR184 in sporadic keratoconus and myopia

scientific article published on 5 August 2013

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

scientific article

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

scientific article

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

scientific article

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

scientific article

Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia

scientific article

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

scientific article

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

scientific article published in May 2009

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

article

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

scientific article published in January 2007

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

scientific article published on 16 December 2016

Myocilin allele-specific glaucoma phenotype database

scientific article published on February 2008

NHS-A isoform of the NHS gene is a novel interactor of ZO-1.

scientific article

Nail-patella syndrome and its association with glaucoma: a review of eight families

scientific article published on 6 July 2006

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions

scientific article

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

scientific article published on 10 January 2017

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

scientific article

No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma.

scientific article

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma

scientific article published on 01 April 2019

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

scientific article published on 20 October 2008

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

scientific article

Novel protein constituents of pathological ocular pseudoexfoliation syndrome deposits identified with mass spectrometry

scientific article published on 28 December 2018

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

article

Null mutations in LTBP2 cause primary congenital glaucoma

scientific article published on 09 April 2009

Objective monitoring of papilloedema using confocal scanning laser ophthalmoscopy

scientific article published on 01 December 2007

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss

scientific article published on July 2015

Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region

scientific journal article

Optic nerve head parameters of an indigenous population living within Central Australia

scientific article

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia

scientific article published on 28 March 2018

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

scientific article published on 8 March 2017

Pathogenesis of thyroid eye disease: review and update on molecular mechanisms.

scientific article

Pericytes, inflammation, and diabetic retinopathy

scientific article published on 05 December 2019

Pooled genome wide association detects association upstream of FCRL3 with Graves' disease

scientific article

Predictive DNA testing for glaucoma: reality in 2003.

scientific article published on December 2003

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.

scientific article published on 9 January 2014

Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma

scientific article published on 28 January 2015

Presence of diabetic retinopathy is associated with worse 10-year mortality among Indigenous Australians in Central Australia: The Central Australian ocular health study

scientific article published on 14 November 2018

Prevalence and associations of blinding trachoma in indigenous Australians within central Australia: the Central Australian Ocular Health Study.

scientific article published in May 2010

Prevalence and associations of cataract in indigenous Australians within central Australia: the Central Australian Ocular Health Study

scientific article

Prevalence and associations of diabetic retinopathy in indigenous Australians within central Australia: the Central Australian Ocular Health Study.

scientific article

Prevalence and associations of refractive error in indigenous Australians within central Australia: the Central Australian Ocular Health Study

scientific article

Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance

scientific article published in PLoS ONE

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma

scientific article published on September 2007

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

Prevalence of pseudoexfoliation syndrome in indigenous Australians within central Australia: The Central Australian Ocular Health Study.

scientific article published on 4 November 2011

Prevalence of pterygium in indigenous Australians within central Australia: the Central Australian Ocular Health Study

scientific article published on 27 April 2011

Prevalence of uveitis in indigenous populations presenting to remote clinics of central Australia: the Central Australian Ocular Health Study

scientific article published on 23 December 2011

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

scientific article published on 28 June 2019

Primary infantile glaucoma in an Australian population

scientific article published on February 2004

Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype.

scientific 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

article

Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study.

scientific article published on 17 August 2009

RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome

scientific article published on 01 March 2022

Rapid inexpensive genome-wide association using pooled whole blood

scientific article published on 03 October 2009

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

scientific article published on 03 October 2016

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

scientific article published in December 2017

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

scientific article

Rationale, methods and baseline demographics of the Bhaktapur Glaucoma Study.

scientific article

Recurrent atypical fibroxanthoma of the limbus

scientific article published on 15 March 2013

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

scientific article published on 11 February 2016

Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy

scientific article published on 05 July 2019

Relationship between DDAH gene variants and serum ADMA level in individuals with type 1 diabetes.

scientific article published on 20 April 2012

Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus

scientific article published on 30 July 2013

Retinopathy of prematurity: recent advances in our understanding

scientific article published on 01 September 2002

Retinopathy of prematurity: recent advances in our understanding.

scientific article

Review of the prevalence of diabetic retinopathy in Indigenous Australians

scientific article published on 05 May 2014

Risk Factors for Graves' Orbitopathy; the Australian Thyroid-Associated Orbitopathy Research (ATOR) Study.

scientific article published on 7 April 2016

Role of the nucleolus in neurodegenerative diseases with particular reference to the retina: a review.

scientific article

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

scientific article published on 01 October 2020

Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees

scientific article published on January 2007

Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant

scientific article published on 16 March 2019

Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.

scientific article published on 22 May 2013

Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene

scientific article published on 15 August 2014

Secondary stenting of glaucoma drainage implant: a novel technique for treatment of late hypotony.

scientific article published on 3 June 2016

Seeing the impact of the Glaucoma Inheritance Study in Tasmania after 25 years

scientific article published on 18 December 2018

Sensitivity of confocal laser tomography versus optical coherence tomography in detecting advanced glaucoma

scientific article

Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes

scientific article

Serum selenium status in Graves’ disease with and without orbitopathy: a case-control study

scientific article published on 30 January 2014

Severe intraocular pressure response to periocular or intravitreal steroid treatment in Australia and New Zealand: data from the Australian and New Zealand Ophthalmic Surveillance Unit.

scientific article

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

scientific article published on 29 May 2018

Single Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial Media

Single Dose of Pseudoephedrine Induces Simultaneous Bilateral Acute Angle Closure Crisis

scientific article published on 01 September 2019

Single-Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial Media

scientific article published on 23 August 2018

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

scientific article

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

scientific article (publication date: 15 June 2001)

Spontaneously resolved infantile glaucoma

scientific article published on 15 April 2014

Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania.

scientific article published on 16 December 2009

T-Cell Large Granular Lymphocyte Leukemia in the Lower Eyelid

scientific article published on 01 November 2016

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

scientific article published on 23 August 2017

Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma.

scientific article

Ten-year all-cause mortality and its association with vision among Indigenous Australians within Central Australia: the Central Australian Ocular Health Study.

scientific article published on 26 November 2016

Ten-year all-cause mortality and its association with vision among Indigenous Australians within central Australia: methodological issues - response

scientific article published on 4 October 2017

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

scientific article published in February 2018

The PITX3 gene in posterior polar congenital cataract in Australia

scientific article (publication date: 18 April 2006)

The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study

scientific article published in June 2005

The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma

scientific article published in April 2001

The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma.

scientific article published on 14 October 2002

The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population.

scientific article

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

scientific article published on 12 February 2020

The genetic and clinical landscape of nanophthalmos in an Australian cohort

scientific article

The genetics of central corneal thickness

scientific article published on 24 June 2009

The intravitreal injection pain study: a randomized control study comparing subjective pain with injection technique

scientific article published on 11 June 2019

The molecular basis of HPFH in a British family identified by heteroduplex formation ⬇️

scientific article published on 01 May 1993

The natural history of OPA1-related autosomal dominant optic atrophy

scientific article published on 24 July 2008

The optic nerve head in myocilin glaucoma

scientific article published on January 2007

The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma

scientific article

The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness

scientific article

The pathogenesis of the glaucomas: nature versus nurture

The prevalence and causes of visual impairment in indigenous Australians within central Australia: the Central Australian Ocular Health Study.

scientific article published on 7 June 2010

The prevalence of glaucoma in indigenous Australians within Central Australia: the Central Australian Ocular Health Study.

scientific article published on 22 April 2011

The reliability of single-field fundus photography in screening for diabetic retinopathy: the Central Australian Ocular Health Study.

scientific article published on February 2013

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

scientific article published on 2 August 2006

The role of toll-like receptor variants in acute anterior uveitis

scientific article published on 16 November 2011

The status of intercellular junctions in established lens epithelial cell lines.

scientific article

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes

scientific article published on July 2005

Tonography Demonstrates Reduced Facility of Outflow of Aqueous Humor in Myocilin Mutation Carriers

scientific article published on 01 June 2003

Topical prostaglandin F(2alpha) analog induced poliosis

scientific article published in May 2004

Using Icare HOME tonometry for follow-up of patients with open-angle glaucoma before and after selective laser trabeculoplasty

scientific article published on 02 December 2019

Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non-Indigenous Australians in South Australia and the Northern Territory

scientific article

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

scientific article published on 5 June 2015

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

scientific article

Working Towards Eye Health Equity for Indigenous Australians with Diabetes

scientific article published on 12 December 2019

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