Web Access Research Portal

Researcher: Mackey, DA (Professor David Mackey)

Fields of Research

Ophthalmology
Epidemiology
Medical Genetics (excl. Cancer Genetics)
Vision Science
Population, Ecological and Evolutionary Genetics
Gene Expression (incl. Microarray and other genome-wide approaches)
Quantitative Genetics (incl. Disease and Trait Mapping Genetics)
Medical Biochemistry and Metabolomics
Genetics
Genome Structure and Regulation
Oncology and Carcinogenesis
Cancer Genetics
Bioethics (human and animal)
Clinical Sciences
Dermatology
Anaesthesiology
Molecular Medicine
Specialist Studies in Education
Conceptual Modelling
Biocatalysis and Enzyme Technology
Public Health and Health Services
Preventive Medicine
Medical Biotechnology
Rheumatology and Arthritis
Geriatrics and Gerontology

Research Objectives

Hearing, Vision, Speech and Their Disorders
Inherited Diseases (incl. Gene Therapy)
Health
Cancer and Related Disorders
Preventive Medicine
Skeletal System and Disorders (incl. Arthritis)
Public Health (excl. Specific Population Health)
Skin and Related Disorders
Specific Population Health (excl. Indigenous Health)
Surgical Methods and Procedures
Expanding Knowledge in the Medical and Health Sciences
Bioethics
Education and Training
Health Related to Ageing
Child Health
Men's Health
Nervous System and Disorders
Expanding Knowledge in the Environmental Sciences
Diagnostic Methods

Career Best Publications

Research Publications

2005 Gregg Lecture: Congenital cataract - from rubella to genetics; Clinical and Experimental Ophthalmology
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure; Human Molecular Genetics
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma; Molecular Vision
Epha2 genotype influences ultraviolet radiation induced cataract in mice; Experimental Eye Research
Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals; Ophthalmology
A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions; Ophthalmology
A Common Disease Haplotype for the Q368STOP Mutation of the Myocilin Gene in Australian and Canadian Glaucoma Families; American Journal of Ophthalmology
A common variant near TGFBR3 is associated with primary open angle glaucoma; Human Molecular Genetics
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25; Nature Genetics
A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism; Twin Research and Human Genetics
A geometric morphometric assessment of the optic cup in glaucoma; Experimental Eye Research
A Glaucoma case-control study of the WDR36 gene D658G sequence variant; American Journal of Ophthalmology
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants; Nature Genetics
A Large GLC1C Greek Family with a Myocilin T377M Mutation: Inheritance and Phenotypic Variability; Investigative Ophthalmology & Visual Science
A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases; American Journal of Ophthalmology
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site; Human Mutation
A novel locus for X-linked congenital cataract on Xq24; Molecular Vision
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance; Journal of Medical Genetics
A novel twin method for determining the significance of heritability of traits; 5th Australasian Human Gene Mapping Conference Incorporating the 9th Australian Twin Registry Conference
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy; Nature Genetics
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye; Americal Journal of Human Genetics
Abnormal iris processes may be a marker of glaucoma gene carrier status in some cases of primary infantile glaucoma; Ophthalmic Genetics
Accuracy and implications of a reported family history of glaucoma - Experience from the glaucoma inheritance study in Tasmania; Archives of Ophthalmology
Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma; Investigative Ophthalmology and Visual Science
Adjunctive intra-operative local anaesthesia in paediatric strabismus surgery: A randomized controlled trial; Australian and New Zealand Journal of Ophthalmology
Aetiology of congenital and paediatric cataract in an Australian population; British journal of ophthalmology
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma; Scientific Reports
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin; Human genetics
Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study; Clinical and Experimental Ophthalmology
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations; Human Molecular Genetics
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people; Human Molecular Genetics
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity; Journal of Clinical Investigation
Angiopoietin-1 is required for Schlemm's canal development in mice and humans; Journal of Clinical Investigation
Approach to evaluation the reliability and validity of conjunctival ultraviolet autofluorescence measurement; British Journal of Ophthalmology
Assessing the genetic predisposition of education on myopia: a Mendelian randomization study; Genetic Epidemiology
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration; Scientific Reports
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye; Investigative Ophthalmology & Visual Science
Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adults; Psychosomatic Medicine
Associations between optic disc measures and obstructive sleep apnea in young adults; Ophthalmology
Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: The australian twins eye study; American Journal of Ophthalmology
Attitudes to Predictive DNA Testing for Myocilin Glaucoma Experience with a Large Australian Family; Journal of Glaucoma
Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment; Clinical and Experimental Ophthalmology
Automated quantification of inherited phenotypes from color images: A twin study of the variability of optic nerve head shape; Investigative Ophthalmology and Visual Science (Iovs)
Automated volumetric evaluation of stereoscopic disc photography; Optics Express
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations; American Journal of Ophthalmology
Benchmarking undedicated cloud computing providers for analysis of genomic datasets; PLoS ONE
Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene; Human Mutation
Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness; Molecular Vision
Central corneal thickness and glaucoma in the Australian Aboriginal population; Clinical and Experimental Ophthalmology
Central Corneal Thickness Is Highly Heritable: The Twin Eye Studies; Investigative Ophthalmology & Visual Science
Central corneal thickness is highly heritable: The Twin Eye Studies; 5th Australasian Human Gene Mapping Conference Incorporating the 9th Australian Twin Registry Conference
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter; Ophthalmic Genetics
Classification of iris colour: review and refinement of a classification schema; Clinical and Experimental Ophthalmology
Clinical and molecular characterization of females affected by X-linked retinoschisis; Clinical and Experimental Ophthalmology
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLCIA); The New England Journal of Medicine
Clinical progression of keratoconus following a Vth nerve palsy; Clinical and Experimental Ophthalmology
Common genetic determinants of intraocular pressure and primary open-angle Glaucoma; PL o S Genetics (Print)
Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness; PL o S Genetics (Print)
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma; Nature Genetics
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma; Nature Genetics
Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors; Journal of Cataract and Refractive Surgery
Complex genetics of complex traits: the case of primary open-angle glaucoma; Clinical and Experimental Ophthalmology
Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family; Ophthalmologica
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus; Human Genetics
Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma; Investigative Ophthalmology and Visual Science
Copy number variation at chromosome 5q21.2 is associated with intraocular pressure; Investigative Ophthalmology and Visual Science (Iovs)
Crowd-sourced ontology for photoleukocoria: Identifying common internet search terms for a potentially important pediatric ophthalmic sign; Translational Vision Science and Technology
Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: A review; Clinical and Experimental Ophthalmology
Current state and future prospects of artificial intelligence in ophthalmology: a review; Clinical and Experimental Ophthalmology
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease; Journal of Medical Genetics
Different patterns of expansion/contraction during the evolution of an mtDNA simple repeat; Molecular Biology and Evolution
Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma; Archives of Ophthalmology
Distribution of astigmatism as a function of age in an Australian population; Acta Ophthalmologica
Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study; Eye
Don’t it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins; Clinical and Experimental Optometry
Drusen in patient-derived hiPSC-RPE models of macular dystrophies; Proceedings of the National Academy of Sciences
Early anesthesia exposure and the effect on visual acuity, refractive error, and retinal nerve fiber layer thickness of young adults; The Journal of Pediatrics
Effect of birth parameters on retinal vascular caliber: the twins eye study in Tasmania; Hypertension
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank; Clinical and Experimental Ophthalmology
Ethical considerations for the return of incidental findings in ophthalmic genomic research; Translational Vision Science and Technology
Evaluation of optineurin sequence variations in 1048 patients with open-angle glaucoma; American Journal of Ophthalmology
Evaluation of the Myocilin (MYOC) Glaucoma Gene in Monkey and Human Steroid-Induced Ocular Hypertension; Investigative Ophthalmology & Visual Science
Evidence for a novel glaucoma locus at chromosome 3p21-22; Human Genetics
Evidence for Genetic Heterogeneity within Eight Glaucoma Families, with the GLC1A Gln368STOP Mutation Being an Important Phenotypic Modifier; Ophthalmology
Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size; Journal of Human Genetics
Familial aggregation of glaucoma: Experience with the glaucoma inheritance study in Tasmania (GIST); Annual Meeting
Familial transmission risk of infantile glaucoma in Australia; Ophthalmic Genetics
Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3; Molecular Vision
Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?; Asia-Pacific Journal of Ophthalmology
Genetic analysis of the clusterin gene in pseudoexfoliation syndrome; Molecular Vision
Genetic and environmental factors in conjunctival UV autofluorescence; JAMA Ophthalmology
Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q; Ophthalmology
Genetic eye research in Tasmania: a historical overview; Clinical and Experimental Ophthalmology
Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families; Neuropsychologia: An International Journal in Behavioural Neuroscience
Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma; American Journal of Ophthalmology
Genetic isolates in ophthalmic diseases; Ophthalmic Genetics
Genetic loci for retinal arteriolar microcirculation; PLoS One
Genetic variants near PDGFRA are associated with corneal curvature in Australians; Investigative Ophthalmology and Visual Science (Iovs)
Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study; International Journal of Epidemiology
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma; Nature Genetics
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus; Nature Genetics
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma; Nature Genetics
Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology; Human Molecular Genetics
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size; Human Molecular Genetics
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability; Nature Genetics
Genome-wide association shows that pigmentation genes play a role in skin aging; Journal of Investigative Dermatology
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium; Human Genetics
Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect; Investigative Ophthalmology & Visual Science
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma; Human Molecular Genetics
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1; Nature Genetics
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma; Nature Genetics
Genome-wide association study success in ophthalmology; Current Opinion in Ophthalmology
Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate; Molecular Vision
Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia; Nature Genetics
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia; Clinical and Experimental Ophthalmology
Glaucoma
Glaucoma
Glaucoma gene
Glaucoma gene
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma gene discovery
Glaucoma Inheritance Study
Glaucoma Inheritance Study in Tasmania
Glaucoma Inheritance Study in Tasmania: An International Collaboration; American Academy of Ophthalmology Basic Sciences Course Section 13 Internaltional Ophthalmology, Part 5. Collaborative Research
Glaucoma phenotype in pedigrees with the Myocilin Thr377Met mutation; Archives of ophthalmology
Glaucoma research
Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma; Ophthalmology
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants; European Journal of Human Genetics
Glaucoma study points to genes
Glaucoma testing
Google-based search of common blinding diseases: a reflection of public concerns; British Journal of Ophthalmology
Grant for Glaucoma Research
Haplotype reference consortium panel: Practical implications of imputations with large reference panels; Human Mutation
Hereditary Hyperferritinemia -Cataract Syndrome: Prevalence, lens morphology and spectrum of mutations and clinical presentations; Archives of Opthalmology
Heritability of anterior chamber depth as an intermediate phenotype of angle-closure in Chinese: the Guangzhou Twin Eye Study; Investigative Ophthalmology & Visual Science
Heritability of Central Corneal Thickness in Nuclear Families ; Investigative Ophthalmology and Visual Science (Iovs)
Heritability of intraocular pressure: a classical twin study; British Journal Of Ophthalmology
Heritability of strabismus: Genetic influence is specific to eso-deviation and independent of refractive error; Twin Research and Human Genetics
Heritability of the iridotrabecular angle width measured by optical coherence tomography in Chinese children: the Guangzhou twin eye study; Investigative Ophthalmology & Visual Science
Heritable features of the optic disc: a novel twin method for determining genetic significance; Investigative Ophthalmology & Visual Science
High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia; G3: Genes, Genomes, Genetics
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry; Ophthalmology
How rapidly does the human mitochondrial genome evolve?; American Journal of Human Genetics
How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania; Clinical and Experimental Ophthalmology
Human TUBB3 mutations perturb microtubule dynamics, kinesin interations, and axon guidance; Cell
Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration; Cell Reports
Identification of KIF21A Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3); Investigative Ophthalmology & Visual Science
Identification of a candidate gene for astigmatism; Investigative Ophthalmology and Visual Science (Iovs)
Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease; European Journal of Human Genetics
Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia; Nature Communications
Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia; Human Genetics
Inheritance of paediatric and congenital cataracts; Annual Meeting
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; Molecular Vision
Introducing a new retinitis pigmentosa patient information website; Clinical and Experimentalal Ophthalmology
Investigation of albinism genes in congenital esotropia; Molecular Vision
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations; British Journal of Ophthalmology
Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds; Molecular Vision
Is it not in my records doctor?; Clinical and Experimental Ophthalmology
Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic; Genome Medicine
Laboratory methods in ophthalmic genetics: obtaining DNA from patients; Ophthalmic Genetics
Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma; Journal of Medical Genetics
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium; Human Genetics
Leber's Hereditary Optic Neuropathy (LHON) Triggered by Antiretroviral Therapy for Human Immunodeficiency Virus (HIV); Eye
Lightning Strikes Twice: Leber Hereditary Optic Neuropathy Families with Two Pathogenic mtDNA Mutations; Journal of Neuro-Ophthalmology
Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree; Investigative Ophthalmology & Visual Science
Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background; American Journal of Medical Genetics. Part A
Low-Penetrance Branches in Matrilineal Pedigrees with Leber Hereditary Optic Neuropathy; American Journal of Human Genetics
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error; Nature Communications
Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology; Genetic Epidemiology
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process; Nature Communications
Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns; BMC Genomics
Missing X and Y: A review of participant ages in population-based eye studies; Clinical and Experimental Ophthalmology
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees; Journal of Medical Genetics
Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy; PL o S One
Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy; Aging
Mortality in primary open-angle glaucoma: ‘two cupped discs and a funeral’; Eye
mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?; American Journal of Human Genetics
Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial; Ultrasound in Obstetrics and Gynecology
Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q; American Journal of Human Genetics
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation; American Journal of Human Genetics
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa; European journal of human genetics
Mutations in TCF8 Cause Posterior Polymorphous Corneal Dystrophy and Ectopic Expression of COL4A3 by Corneal Endothelial Cells; American Journal of Human Genetics
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia; PLoS One
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity; Clinical and Experimental Ophthalmology
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13); Human Molecular Genetics
Myocilin allele-specific glaucoma phenotype database; Human Mutation
Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies; JAMA Ophthalmology
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals; Archives of Ophthalmology
Myopia and skin cancer are inversely correlated: results of the Busselton Healthy Ageing Study; 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; American Journal of Ophthalmology
Myopia is associated with lower vitamin D status in young adults; Investigative Ophthalmology and Visual Science (Iovs)
Nail-patella syndrome and its association with glaucoma: a review of eight families; British Journal of Ophthalmology
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions; Human Molecular Genetics
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics; Human Molecular Genetics
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error; American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man
No association between variations in the WDR36 gene and primary open-angle glaucoma; Archives of Ophthalmology
No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma; Ophthalmic Genetics
Normal range of hearing associated with myocilin THr377Met; Ophthalmic Genetics
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes; Human Genetics
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss; JAMA Ophthalmology
Ophthalmic Phenotypes and Representativeness of Twin Data for the General Population; Investigative Ophthalmology and Visual Science (Iovs)
Optic disc morphology - Rethinking shape; Progress in Retinal and Eye Research
Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking; Cell and Tissue Banking
PAX6 mutations may be associated with high myopia; Ophthalmic Genetics
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family; Molecular Vision
Phenotypic variability in a large aniridia pedigree with a novel PAX6 1410delC; Annual Meeting
Pigmentary retinopathy, macular oedema and abnormal ERG with mitotane treatment; British journal of ophthalmology
Plurality in multi-disciplinary research: multiple institutional affiliations are associated with increased citations; PeerJ
Post-Cycloplegia Myopic Shift in an Older Population; Ophthalmic Epidemiology
Predictive DNA testing for glaucoma: Reality in 2003; Ophthalmology clinics of North America
Predictive DNA Testing in Ophthalmology; British Journal of Ophthalmology
Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study; Clinical and Experimental Ophthalmology
Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma; Clinical Genetics
Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma; JAMA Ophthalmology
Prevalence of chronic ocular diseases in a genetic isolate: The Norfolk Island Eye Study (NIES); Ophthalmic Epidemiology
Primary infantile glaucoma in an Australian population; Clinical and Experimental Ophthalmology
Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece; Clinical Ophthalmology
Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype; Clinical and Experimental Ophthalmology
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy; American Journal of Human Genetics
Pterygium and conjunctival ultraviolet autofluorescence in young Australian adults: the Raine study; Clinical and Experimental Ophthalmology
Quantitative genetic analysis of the retinal vascular caliber: The australian twins eye study; Hypertension
Raine eye health study: Design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults; Ophthalmic Genetics
Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism; American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man
Reliability and validity of conjunctival ultraviolet autofluorescence measurement; British Journal of Ophthalmology
Reply to Hofmann et al; American Journal of Human Genetics
Research coup for state
Research Report. Are Duane syndrome and infantile esotropia allelic?; Ophthalmic Genetics
Research: Keep PubMed running at all costs; Nature: International Weekly Journal of Science
Researchers have glaucoma treatment in sight
Response: Cycloplegia in refraction: age and cycloplegics; Acta Ophthalmologica
Retinal microvessels reflect familial vulnerability to psychotic symptoms: A comparison of twins discordant for psychotic symptoms and controls; Schizophrenia Research
Retinal vascular caliber: systemic, environmental, and genetic associations; Survey of Ophthalmology
Retinopathy of prematurity: recent advances in our understanding; Archives of Disease in Childhood
Retinopathy of prematurity: recent advances in our understanding; British Journal of Ophthalmology
Review of null hypothesis significance testing in the ophthalmic literature: are most 'significant' P values false positives?; Clinical and Experimental Ophthalmology
Role of the TCF4 gene intronic variant in normal variation of corneal endothelium; Cornea
Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees; Archives of Ophthalmology
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy; American Journal of Human Genetics
Spectral-Domain Optical Coherence Tomography-Derived Characteristics of Bruch Membrane Opening in a Young Adult Australian Population; American Journal of Ophthalmology
Spectrum and Frequency of FZD4 Mutations in Familial Exudative Vitreorectinopathy; INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Sporadic leber hereditary optic neuropathy in Australia and new Zealand; Australian and New Zealand Journal of Ophthalmology
Study based in Tasmania
Study of Glaucoma
Swimming goggle wear is not associated with an increased prevalence of glaucoma; BJO Online
Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania; Acta Ophthalmologica
Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma; Molecular Vision
Telemedicine model to prevent blindness from familial glaucoma; Clinical and Experimental Ophthalmology
Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: an analysis in two large datasets; Investigative Ophthalmology and Visual Science
The Taa1 Restriction Enzyme Provides a Simple Means to Identify the Q368STOP Mutation of the Myocilin Gene in Primary Open Angle Glaucoma; American Journal of Ophthalmology
The apolipoprotein epsilon 4 gene is associated with elevated risk of normal tension glaucoma; Molecular Vision
The application of a population based ascertainment correction for the variance components analysis of quantitative traits in a single extended pedigree; 5th Australasian Human Gene Mapping Conference Incorporating the 9th Australian Twin Registry Conference
The Association Between Maternal Smoking in Pregnancy, Other Early Life Characteristics and Childhood Vision: The Twins Eye Study in Tasmania; Ophthalmic Epidemiology
The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study; Acta Ophthalmologica
The association between time spent outdoors and myopia in children and adolescents: A systematic review and meta-analysis; Ophthalmology
The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure; Investigative Ophthalmology and Visual Science
The Heritability of Corneal Hysteresis and Ocular Pulse Amplitude; Ophthalmology
The heritability of ocular traits; Survey of Ophthalmology
The importance of conditional probability in diagnostic reasoning and clinical decision making: A primer for the eye care practitioner; Ophthalmic Epidemiology
The natural history of OPA1-related autosomal dominant optic atrophy; British Journal of Ophthalmology
The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (Biometry of the Bounty); Twin Research and Human Genetics
The optic nerve head in hereditary optic neuropathies; Nature Reviews Neurology
The optic nerve head in myocilin glaucoma; Investigative Ophthalmology & Visual Science
The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma; PLoS One
The path to open-angle glaucoma gene discovery: Endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness; Investigative Ophthalmology and Visual Science
The pathogenesis of the glaucoma: nature versus nurture; Clinical and Experimental Ophthalmology
The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome. There Is a Difference between Phylogenetic and Pedigree Rates; American Journal of Human Genetics
The PITX3 gene in posterior polar congenital cataract in Australia; Molecular Vision
The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study; American Journal of Ophthalmology
The relationship between optic disc parameters and female reproductive factors in young women; Asia-Pacific Journal of Ophthalmology
The role of the Met98Lys optineurin variant in inherited optic nerve diseases; British Journal of Ophthalmology
The role of toll-like receptor variants in acute anterior uveitis; Molecular Vision
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes; British Journal of Ophthalmology
Tonography demonstrates reduced facility of outflow of aqueous humour in myocilin mutation carriers; Journal of Glaucoma
Tools for cup:disc ratio measurement. Letters to the Editor; Clinical and Experimental Ophthalmology
Training peer reviewers
Twins Eye Study in Tasmania (TEST): Rationale and methodology to recruit and examine twins; Twin Research and Human Genetics
Visual field assessment and the Austroad driving standard; Clinical and Experimental Ophthalmology
Visual improvement despite radiologically stable disease after treatment with carboplatin in children with progressive low-grade optic/thalamic gliomas; Journal of Pediatric Hematology / Oncology
What is the appropriate age cut-off for cycloplegia in refraction?; Acta Ophthalmologica
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma; PLoS ONE

Research Projects

Evaluation of the Norrie Disease, VEGF-B and VEGF-A genes in Retinopathy of Prematurity; Clifford Craig Medical Research Trust/UTAS (CCMRT/UTAS)
Genetic Studies of Paediatric Cataract in South-Eastern Australia; Ophthalmic Research Institute of Australia (ORIA)
Glaucoma inheritance study in Tasmania.; Clifford Craig Foundation (CCFoundation)
Glaucoma inheritance study.; Walter and Eliza Hall Institute of Medical Research (WEHIMR)
Identification of Genes Causing Congenital Cataract; Royal Hobart Hospital Research Foundation (RHHRF)
Increased American collaboration with the Glaucoma Inheritance Study in Tasmania; Glaucoma Research Foundation (GRF)
Investigating Known Loci for Primary Open-angle Glaucoma; Glaucoma Research Foundation (GRF)
Pilot Study of the Prevalence and Risk Factors of Childhood Ocular Conditions; Clifford Craig Foundation (CCFoundation)
Subcontract to provide efficient supply of suitable blood samples from well characterized glaucoma families.; University of Iowa (UIOWA)
The Genetics of Glaucoma Using a Twin Study and a Population Study; Pfizer (PFIZER)
The Glaucoma Inheritance Study in Tasmania (GIST): Investigating the Prevalence, Penetrance and Phenotype of Mutations in Genes Resulting in the Eye Disease, Glaucoma; Royal Hobart Hospital Research Foundation (RHHRF)

Research Candidate Supervision

A Study of the segregation of Optic Disc Diameters in Tasmanian Glaucoma Pedigrees
Analysis and toxicity of free copper in seawater
High Heritability of Central Corneal Thickness- The Twins Eye Studies
How Significant is a Family History of Primary Open Angle Glaucoma?
Identification of potential genetic risk markers in familial primary open-angle Glaucoma in Tasmania
Investigating the Genetics of Primary Open-Angle Glaucoma in Tasmania
Investigations of Cataract Genetics
Iron in Modern and Ancient East Antarctic Snow