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List of works by David A. Mackey

2005 Gregg Lecture: Congenital cataract--from rubella to genetics

scientific article published in April 2006

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

scientific article published on 16 January 2016

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 genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.

scientific article

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14.

scientific article

A genome-wide association study of corneal astigmatism: The CREAM Consortium

scientific article published on 5 February 2018

A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort

scientific article

A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism

scientific article published on 27 February 2013

A geometric morphometric assessment of the optic cup in glaucoma

scientific article published on 22 June 2010

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

scientific article published on February 2006

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 locus for X-linked congenital cataract on Xq24.

scientific article published on 18 April 2008

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family ⬇️

scientific article published on February 20, 2012

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

scientific article published on 30 January 2015

AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS

article

Abnormal Iris Processes May Be a Marker of Glaucoma Gene Carrier Status in Some Cases of Primary Infantile Glaucoma

article

Accuracy of Inferred APOE Genotypes for a Range of Genotyping Arrays and Imputation Reference Panels

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

scientific article published in August 2015

Aetiology of congenital and paediatric cataract in an Australian population

scientific article published on July 2002

Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism

scientific article published on 27 July 2020

An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error.

scientific article published on 26 March 2012

An international collaborative family-based whole-genome linkage scan for high-grade myopia

scientific article published on 25 March 2009

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 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

Animal-inflicted ocular and adnexal injuries in children: A systematic review

scientific article published on 25 May 2015

Are Duane syndrome and infantile esotropia allelic?

article published in 2004

Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study

scientific article published on 26 October 2015

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

scientific article published on 31 May 2016

Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.

scientific article published on 21 March 2013

Association of Birth Weight With Type 2 Diabetes and Glycemic Traits: A Mendelian Randomization Study

scientific article published on 04 September 2019

Association of Genetic Variation With Keratoconus

scientific article published on 19 December 2019

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

scientific article

Associations Between Fetal Growth Trajectories and the Development of Myopia by 20 Years of Age

scientific article published on 01 December 2020

Associations between Optic Disc Measures and Obstructive Sleep Apnea in Young Adults

scientific article published on 17 May 2019

Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adults

scientific article

Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: the Australian Twins Eye Study

scientific article published on December 2010

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

scientific article published in August 2004

Auditory function in individuals within Leber's hereditary optic neuropathy pedigrees

scientific article published on 2 September 2011

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

Authors' response—Approach to evaluating the reliability and validity of conjunctival ultraviolet autofluorescence measurement

Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape

scientific article

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

Axial Length Variation Impacts on Superficial Retinal Vessel Density and Foveal Avascular Zone Area Measurements Using Optical Coherence Tomography Angiography

scientific article published in June 2017

Benchmarking undedicated cloud computing providers for analysis of genomic datasets

scientific article

Benchmarking undedicated cloud computing providers for analysis of genomic datasets

scholarly article published 7 August 2014

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.

scientific article

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

scientific article published on 07 January 2020

Birth of a cohort--the first 20 years of the Raine study

scientific article published in December 2012

Birth order and myopia

scientific article published on 29 October 2013

Blindness in offspring of women blinded by Leber's hereditary optic neuropathy

scientific article published in The Lancet

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

COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus

scientific article published on 22 April 2009

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

Cardiac arrhythmia and Leber's hereditary optic neuropathy

scientific article published on June 6, 1992

Central corneal thickness and glaucoma in the Australian Aboriginal population

article

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

scientific article

Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

scientific article published on 13 May 2016

Choroidal Thickening During Young Adulthood and Baseline Choroidal Thickness Predicts Refractive Error Change

scientific article published on 01 May 2022

Choroidal thickness in young adults and its association with visual acuity

scientific article published on 26 February 2020

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

scientific article

Classification of iris colour: review and refinement of a classification schema

scientific article

Clinical Case Notes. Clinical progression of keratoconus following a Vth nerve palsy

scientific article published on 01 August 2003

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

scientific article published in 2021

Clinical and molecular characterization of females affected by X-linked retinoschisis

scientific article published on 20 April 2015

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

scientific article published in April 1998

Common genetic determinants of intraocular pressure and primary open-angle glaucoma

scientific article

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

scientific article

Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts

scientific article

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

Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors

scientific article published on 11 January 2014

Comparison of three methods of intraocular pressure measurement and their relation to central corneal thickness

scientific article published on 12 February 2010

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

scientific article published on July 2006

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

article

Congenital blindness is protective for schizophrenia and other psychotic illness. A whole-population study

scientific article published on 07 July 2018

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus

article published in 2002

Conjunctival Ultraviolet Autofluorescence as a Measure of Past Sun Exposure in Children

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 variation at chromosome 5q21.2 is associated with intraocular pressure

scientific article

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

scientific article

Correction: Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation In Vivo.

scientific article

Correspondence. Introducing a new retinitis pigmentosa patient information website

Correspondence. Tools for cup:disc ratio measurement

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

scientific article published in June 2015

Counting on caveolin for clues in glaucoma

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

Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review

scientific article

Current state and future prospects of artificial intelligence in ophthalmology: a review

scholarly article by Daniel T Hogarty et al published 28 August 2018 in Clinical and Experimental Ophthalmology

Current state and future prospects of artificial intelligence in ophthalmology: a review

scholarly article by Daniel T Hogarty et al published 30 September 2018 in Clinical and Experimental Ophthalmology

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease

scientific article published on 05 October 2020

Differential stability of variant gene transcripts in myopic patients

article

Digital quantification of human eye color highlights genetic association of three new loci

scientific article

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Disease severity of familial glaucoma compared with sporadic glaucoma

scientific article published in July 2006

Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders

scientific article published in 2023

Distribution of astigmatism as a function of age in an Australian population

scientific article published on 13 January 2015

Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study

scientific article

Do Levels of Stress Markers Influence the Retinal Nerve Fiber Layer Thickness in Young Adults?

scientific article published on 13 April 2020

Do recycled spectacles meet the refractive needs of a developing country?

Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?

Does including colour-blind men enhance search and rescue teams?

scientific article published on 7 February 2018

Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins

scientific article

Drusen in patient-derived hiPSC-RPE models of macular dystrophies.

scientific article published on 6 September 2017

Early Anesthesia Exposure and the Effect on Visual Acuity, Refractive Error, and Retinal Nerve Fiber Layer Thickness of Young Adults

scientific article

Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy

scientific article published on 09 September 2020

Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania

scientific article published on 12 January 2009

Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies

scientific article

Epha2 genotype influences ultraviolet radiation induced cataract in mice

scientific article published on 17 September 2019

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

article

Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank

scientific article

Estimation of heritability and familial correlation in myopia is not affected by past sun exposure

scientific article published on 06 December 2019

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

scientific article published on 9 February 2016

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

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 06 June 2019

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 01 September 2019

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

scientific article published on 23 October 2020

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

scientific article published on 27 September 2020

Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size

scientific article published on 16 November 2017

Eye Injuries across history and the evolution of eye protection

scientific article published on 25 March 2019

Eye Injury Prevention for the Pediatric Population

scientific article published on May 2016

Eye injuries and tasers

Eye injury registries - A systematic review

scientific article published on 26 July 2019

FUNDUS AUTOFLUORESCENCE IN RUBELLA RETINOPATHY: Correlation With Photoreceptor Structure and Function

scientific article published on January 2017

Fail-to-attend rates in a private ophthalmology clinic by age group

scientific article

Familial Transmission Risk of Infantile Glaucoma in Australia

article

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

scientific article published on 8 June 2017

Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations

scientific article published on 19 June 2012

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

scientific article

Finger prick blood testing in Leber hereditary optic neuropathy

scientific article published on May 1993

Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo

scientific article published in October 2010

GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development

scientific article

Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?

scientific article published on July 2016

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

scientific article published in June 2016

Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes

scientific article published on 20 May 2019

Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity

scientific article published on 11 September 2020

Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

scientific article

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome

scientific article published on 22 September 2008

Genetic and environmental factors in conjunctival UV autofluorescence

scientific article published on April 2015

Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort

scientific article

Genetic associations in esotropia: genome-wide association study and copy number variation ⬇️

scholarly article

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

scientific article published on 26 October 2007

Genetic eye research in Tasmania: a historical overview ⬇️

scientific article published on December 23, 2011

Genetic influences on handedness: data from 25,732 Australian and Dutch twin families

scientific article

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 isolates in ophthalmic diseases

scientific article published on December 2008

Genetic loci for retinal arteriolar microcirculation

scientific article

Genetic variants near PDGFRA are associated with corneal curvature in Australians

scientific article

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

Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study

scientific article published on 6 June 2017

Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging

scientific article published on 11 May 2017

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

scientific article published on 01 August 2018

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-analysis highlights light-induced signaling as a driver for refractive error

scientific article published on 28 May 2018

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

scientific article published on 19 March 2020

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

scientific article published on 16 April 2018

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

scientific article

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero

scientific article published on 12 April 2018

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 of intraocular pressure uncovers new pathways to glaucoma

scientific article published on 27 July 2018

Genome-wide association study success in ophthalmology

scientific article published on September 2014

Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate

scientific article published on 28 September 2017

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

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia

scientific article

Giant cell arteritis: ophthalmic manifestations of a systemic disease

scientific article

Gillies lecture: dissecting glaucoma: understanding the molecular risk factors

scientific article published on July 2008

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

Google-based search of common blinding diseases: a reflection of public concerns

article

Haplotype reference consortium panel: Practical implications of imputations with large reference panels

scientific article published on 10 May 2017

Has the Sun Protection Campaign in Australia Reduced the Need for Pterygium Surgery Nationally?

scientific article published on 30 July 2020

Hereditary Hyperferritinemia-Cataract Syndrome

scientific article published on 01 December 2003

Heritability of Central Corneal Thickness in Nuclear Families

article

Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye Study

scientific article

Heritability of intraocular pressure: a classical twin study

scientific article

Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error

scientific article published on 13 June 2012

Heritability of the Iridotrabecular Angle Width Measured by Optical Coherence Tomography in Chinese Children: The Guangzhou Twin Eye Study

article

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

scientific article published in June 2007

High throughput functional profiling of genes at intraocular pressure loci reveals distinct networks for glaucoma

scholarly article

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

How does spending time outdoors protect against myopia? A review

scientific article published on 13 November 2019

How many young drivers do not meet the driver licencing vision requirements?

scientific article published on 03 May 2020

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

scientific article published on December 2007

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

scientific article

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

scientific article published on December 2013

IMI 2021 Yearly Digest

scientific article

IMI – Myopia Genetics Report

article

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

scientific article

Identification of a candidate gene for astigmatism

scientific journal article

Identification of a gene that causes primary open angle glaucoma.

scientific article

Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease

scientific article

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

scientific article

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia

scientific article published on 28 March 2002

Impact of Reference Center Choice on Adaptive Optics Imaging Cone Mosaic Analysis

scientific article published on 01 April 2022

Improving parents' knowledge of early signs of paediatric eye disease: A double-blind randomised controlled trial

scientific article published on 15 October 2020

Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia

article

Influence of prenatal environment and birth parameters on amblyopia, strabismus, and anisometropia

scientific article published on 07 March 2020

Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid

scientific article published on 01 September 2017

Inter-device comparison of retinal sensitivity measurements: the CenterVue MAIA and the Nidek MP-1.

scientific article

Interpreting MAIA Microperimetry Using Age- and Retinal Loci-Specific Reference Thresholds

scientific article published on 18 June 2020

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study

scientific article published on 6 June 2013

Intersession Test-Retest Variability of Microperimetry in Type 2 Macular Telangiectasia.

scientific article published on 12 December 2017

Intersession test-retest variability of conventional and novel parameters using the MP-1 microperimeter

scientific article

Intrasession Repeatability and Interocular Symmetry of Foveal Avascular Zone and Retinal Vessel Density in OCT Angiography

scientific article

Investigating the long-term impact of a childhood sun-exposure intervention, with a focus on eye health: protocol for the Kidskin-Young Adult Myopia Study

scientific article published on 31 January 2018

Investigation of albinism genes in congenital esotropia

scientific article published on 16 December 2003

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

scientific article published on January 2004

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

scientific article published on 30 September 2008

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds

scientific article published on 28 March 2007

Is Dietary Vitamin A Associated with Myopia from Adolescence to Young Adulthood?

scientific article published on 28 May 2020

Is it not in my records, doctor? ⬇️

scientific article published on 01 December 2001

Isolated corneal opacification and microphthalmia: a suspected warfarin embryopathy

scientific article published in August 2009

Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.

scientific article published on 25 September 2017

LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

scientific article

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

scientific article

Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus

scientific article published in April 2003

Letters to the Editor

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations

scientific article published in December 2002

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

Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis

scientific article published on 23 July 2018

Low 25-Hydroxyvitamin D Concentration Is Not Associated With Refractive Error in Middle-Aged and Older Western Australian Adults

article

Low-dose (0.01%) atropine eye-drops to reduce progression of myopia in children: a multicentre placebo-controlled randomised trial in the UK (CHAMP-UK)-study protocol

scientific article published on 25 October 2019

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

scientific article published on 23 October 2015

Mendelian randomization analysis does not support causal associations of birth weight with hypertension risk and blood pressure in adulthood

scientific article published on 07 May 2020

Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

scientific article published on 30 March 2020

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

Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns

scientific article

Missing X and Y: a review of participant ages in population-based eye studies

scientific article published on 18 August 2011

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma

scientific article published on 01 September 2018

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy ⬇️

scientific article

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy

scientific article

Mobile touch screen device use and associations with musculoskeletal symptoms and visual health in a nationally representative sample of Singaporean adolescents

article

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

scientific article published on 27 February 2009

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

scientific article published on 27 September 2011

Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial

scientific article

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

scientific article published on 20 January 2020

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

scientific article

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

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

Myopia Is Associated With Lower Vitamin D Status in Young Adults

scientific article published on 26 June 2014

Myopia Outcome Study of Atropine in Children (MOSAIC): an investigator-led, double-masked, placebo-controlled, randomised clinical trial protocol

scientific article published on 23 July 2019

Myopia and skin cancer are inversely correlated: results of the Busselton Healthy Ageing Study

scholarly article by Maria Franchina et al published 19 May 2014 in The Medical Journal of Australia

Myopia in young adults is inversely related to an objective marker of ocular sun exposure: the Western Australian Raine cohort study

scientific article published on 26 July 2014

Myopia-The future progression of myopia: Seeing where we are going

scientific article published on December 2016

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

scientific article

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-accidental and accidental eye injuries in children in Western Australia

scientific article published on 29 February 2020

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways ⬇️

scientific article published in Nature Communications

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

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

OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy

scientific article published on 17 July 2020

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

scientific article published on July 2015

Ophthalmic phenotypes and the representativeness of twin data for the general population

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Optic Disc Evaluation in Optic Neuropathies

scientific article published on 03 December 2010

Optic Disc Measures in Obstructive Sleep Apnoea: A Community-based Study of Middle-aged and Older Adults

scientific article published on 03 March 2020

Optic disc morphology--rethinking shape

scientific article published on 10 June 2009

Optic nerve genetics—more than meets the eye

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Optical Coherence Tomography in Ophthalmology: Current Applications and Future Directions

scientific article published in 2017

PAX6Mutations May Be Associated with High Myopia

scholarly article by Alex W. Hewitt et al published January 2007 in Ophthalmic Genetics

Paediatric ocular and adnexal injuries requiring hospitalisation in Western Australia

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Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking

scientific article published on 14 June 2016

Past, Present, and Future Concepts of the Choroidal Scleral Interface Morphology on Optical Coherence Tomography

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Plurality in biomedical research: Multiple institutional affiliations are associated with improved research output

Plurality in biomedical research: Multiple institutional affiliations are associated with improved research output

Plurality in multi-disciplinary research: multiple institutional affiliations are associated with increased citations

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Post-cycloplegia myopic shift in an older population

scientific article published in June 2005

Predictive DNA testing for glaucoma: reality in 2003.

scientific article published on December 2003

Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study

scientific article published on 14 June 2011

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 chronic ocular diseases in a genetic isolate: the Norfolk Island Eye Study (NIES).

scientific article published in April 2011

Prevalence of keratoconus based on Scheimpflug imaging: The Raine Study

scientific article published on 26 August 2020

Primary infantile glaucoma in an Australian population

scientific article published on February 2004

Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece

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

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Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

scientific article published in May 2010

Pseudoexfoliation syndrome: more than meets the eye

Pterygia are indicators of an increased risk of developing cutaneous melanomas

scientific article published on 26 August 2017

Pterygium and conjunctival ultraviolet autofluorescence in young Australian adults: the Raine study

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Publication output of senior academic ophthalmologists in Australia and New Zealand

scientific article published in April 2014

Publication output target for ophthalmology subspecialty fellows in Australia

scientific article published on 24 June 2017

Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

scientific article published on 01 July 2019

Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways ⬇️

scientific article published in Nature Communications

Quality of DNA extracted from mouthwashes

scientific article published on 07 July 2009

Quantification of sun-related changes in the eye in conjunctival ultraviolet autofluorescence images

scientific article published on July 2016

Quantitative analysis of retinal vessel attenuation in eyes with retinitis pigmentosa

scientific article published on 28 June 2012

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

scientific article published on 17 August 2009

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

scientific article published on 7 May 2009

Raine eye health study: design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults

scientific article published on 10 January 2013

Rare and low-frequency coding variants alter human adult height

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

scientific article published on 03 October 2016

Rationale and protocol for the 7- and 8-year longitudinal assessments of eye health in a cohort of young adults in the Raine Study

scientific article published on 25 March 2020

Rationale, design and methods for a community-based study of clustering and cumulative effects of chronic disease processes and their effects on ageing: the Busselton healthy ageing study.

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Re-engaging an inactive cohort of young adults: evaluating recruitment for the Kidskin Young Adult Myopia Study

scientific article published on 24 May 2020

Recalling our day in the sun: comparing long-term recall of childhood sun exposure with prospectively collected parent-reported data

scientific article published on 03 February 2020

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

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Recreational fishing eye injuries and eye protection

scientific article published in June 2015

Recurrent Rare Copy Number Variants Increase Risk for Esotropia

scientific article published on 01 August 2020

Reliability and validity of conjunctival ultraviolet autofluorescence measurement

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Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies

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Repurposing blue laser autofluorescence to measure ocular sun exposure

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Repurposing blue laser autofluorescence to measure ocular sun exposure

Research: Keep PubMed running at all costs

scientific article published in October 2013

Response: Cycloplegia in refraction: age and cycloplegics.

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Retinal microvessels reflect familial vulnerability to psychotic symptoms: A comparison of twins discordant for psychotic symptoms and controls

scientific article published on 16 February 2015

Retinal vascular caliber: systemic, environmental, and genetic associations

scientific article published on January 2009

Review of null hypothesis significance testing in the ophthalmic literature: are most 'significant' P values false positives?

scientific article published on 03 July 2015

Rock, paper and scissors? Traumatic paediatric cataract in Victoria 1992-2006.

scientific article published on April 2010

Role of the TCF4 gene intronic variant in normal variation of corneal endothelium

scientific article published in February 2012

Running with scissors

scientific article published on 8 October 2014

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

scientific article published on January 2007

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

scientific article published on 18 December 2018

Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy

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Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia

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Severe alkali burns from beer line cleaners warrant mandatory safety guidelines

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

scientific article published on 01 December 2021

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

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

scientific article published on 23 August 2018

Spectacle-related eye injuries, spectacle-impact performance and eye protection

scientific article published on May 2015

Spectral-Domain Optical Coherence Tomography-Derived Characteristics of Bruch Membrane Opening in a Young Adult Australian Population

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Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

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Sports-related eye and adnexal injuries in the Western Australian paediatric population

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Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells

scientific article published on 26 April 2016

Swimming goggle wear is not associated with an increased prevalence of glaucoma

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

scientific article published on 16 December 2009

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

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Telemedicine model to prevent blindness from familial glaucoma

scientific article published on 27 April 2011

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

scientific article published in February 2018

The 'I' in personalized genetics: 2008 Ian Constable lecture

scientific article published in July 2009

The Association Between Maternal Smoking in Pregnancy, Other Early Life Characteristics and Childhood Vision: The Twins Eye Study in Tasmania

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The Heritability of Corneal Hysteresis and Ocular Pulse Amplitude

scientific article published on 24 April 2008

The Importance of Conditional Probability in Diagnostic Reasoning and Clinical Decision Making: A Primer for the Eye Care Practitioner

scientific article published on 19 January 2017

The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (biometry of the bounty).

scientific article published in February 2011

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 Relationship Between Optic Disc Parameters and Female Reproductive Factors in Young Women

scientific article published on 31 December 2018

The Sydney siege: courage, compassion and connectedness

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 between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study

scientific article published on 16 December 2011

The association between time spent outdoors and myopia in children and adolescents: a systematic review and meta-analysis

scientific article published on 17 July 2012

The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure

scientific article published on July 2012

The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy

scientific article published on 01 August 2019

The genetic profile of Leber congenital amaurosis in an Australian cohort

scientific article published on 22 August 2017

The heritability of ocular traits

scientific article published on 19 September 2010

The natural history of OPA1-related autosomal dominant optic atrophy

scientific article published on 24 July 2008

The optic nerve head in acquired optic neuropathies

scientific article published on 09 March 2010

The optic nerve head in hereditary optic neuropathies

scientific article published on May 2009

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

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

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The pathogenesis of the glaucomas: nature versus nurture

The relationship between retinal arteriolar and venular calibers is genetically mediated, and each is associated with risk of cardiovascular disease

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

scientific article published on 16 November 2011

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

scientific article published on July 2005

Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy

scholarly article by David A. Mackey published in July 1994

Time spent outdoors in childhood is associated with reduced risk of myopia as an adult

scientific article published on 18 March 2021

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

scientific article published on 01 June 2003

Twins eye study in Tasmania (TEST): rationale and methodology to recruit and examine twins

scientific article published on October 2009

Two-Year Efficacy of Ranibizumab Plus Laser-Induced Chorioretinal Anastomosis vs Ranibizumab Monotherapy for Central Retinal Vein Occlusion: A Randomized Clinical Trial ⬇️

scientific article published on 01 December 2018

Update on the epidemiology and genetics of myopic refractive error

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Visual field assessment and the Austroads driving standard

scientific article published in February 2002

Vitamin D and its pathway genes in myopia: systematic review and meta-analysis

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

scientific article published on 5 June 2015

Western Australia Atropine for the Treatment of Myopia (WA-ATOM) study: Rationale, methodology and participant baseline characteristics

scientific article published on 26 February 2020

What is the appropriate age cut-off for cycloplegia in refraction?

scientific article published on 19 March 2014

When do myopia genes have their effect? Comparison of genetic risks between children and adults

scientific article published on 9 September 2016

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

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X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

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X-linked megalocornea: close linkage to DXS87 and DXS94.

scientific article published in October 1989

Your time starts now — translation time lines for major ophthalmic discoveries ⬇️

scientific article published on June 18, 2012

iPS Cells for Modelling and Treatment of Retinal Diseases

scientific article published on 19 December 2014

mtDNA Mutations That Cause Optic Neuropathy: How Do We Know? ⬇️

scientific article published on January 1, 1998

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