Web Access Research Portal

Researcher: Hewitt, A (Professor Alex Hewitt)

Fields of Research

Vision science
Cellular nervous system
Cell development, proliferation and death
Neurology and neuromuscular diseases
Gene mapping
Gene and molecular therapy
Medical genetics (excl. cancer genetics)
Gene expression (incl. microarray and other genome-wide approaches)
Genome structure and regulation
Central nervous system
Cancer genetics
Molecular targets
Medical and health law
Ophthalmology and optometry
Biochemistry and cell biology
Health promotion
Cardiology (incl. cardiovascular diseases)
Medical molecular engineering of nucleic acids and proteins
Sensory systems
Cancer cell biology
Genetic immunology
Sequence analysis
Molecular medicine
Health economics
Information modelling, management and ontologies
Medical biochemistry - lipids
Health and community services
Regenerative medicine (incl. stem cells)
Cell and nuclear division
Genomics and transcriptomics
Animal immunology
Preventative health care
Autonomic nervous system
Health services and systems
Epigenetics (incl. genome methylation and epigenomics)
Cellular immunology
Microbial genetics
Haematological tumours
Clinical sciences
Veterinary immunology
Tumour immunology
Medical biotechnology
Data communications
Medical ethics
Cell metabolism
Aboriginal and Torres Strait Islander public health and wellbeing

Research Objectives

Clinical health
Diagnosis of human diseases and conditions
Treatment of human diseases and conditions
Expanding knowledge in the biological sciences
Expanding knowledge in the biomedical and clinical sciences
Expanding knowledge in the health sciences
Determinants of health
Public health (excl. specific population health)
Prevention of human diseases and conditions
Law reform
Health status (incl. wellbeing)
Terrestrial biodiversity
Health related to ageing
Rural and remote area health
Specific population health (excl. Indigenous health)
Outpatient care
Other health
Aquaculture crustaceans (excl. rock lobster and prawns)
Citizenship and national identity
Human pharmaceutical treatments
Health policy evaluation
Evaluation of health and support services
Preventive medicine
Disease distribution and transmission (incl. surveillance and response)
Social structure and health
Control of pests, diseases and exotic species in terrestrial environments
Veterinary diagnostics
Disability and functional capacity
Evaluation of health outcomes

Career Best Publications

Research Publications

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure; Human Molecular Genetics
Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals; Ophthalmology
PSEN1ΔE9, APPswe, and APOE4 confer disparate phenotypes in human iPSC-derived microglia; Stem Cell Reports
PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis; RMD Open
A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions; Ophthalmology
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome; Nature Genetics
A common variant near TGFBR3 is associated with primary open angle glaucoma; Human Molecular Genetics
A comparative analysis of high-throughput platforms for validation of a circulating microRNA signature in diabetic retinopathy; Scientific Reports
A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma; Molecular Vision
A drug-tunable Flt23k gene therapy for controlled intervention in retinal neovascularization; Angiogenesis
A genetic variant regulating miR-126 is associated with sight threatening diabetic retinopathy; Diabetes and Vascular Disease Research
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 global social media survey of attitudes to human genome editing; Cell Stem Cell
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants; Nature Genetics
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus; Communications Biology
A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases; American Journal of Ophthalmology
A need for better understanding is the major determinant for public perceptions of human gene editing; Human Gene Therapy
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 polygenic risk score predicts intraocular pressure readings outside office hours and early morning spikes as measured by home tonometry; Ophthalmology Glaucoma
A simple cloning-free method to efficiently induce gene expression using CRISPR/Cas9; Molecular Therapy - Nucleic Acids
A simple differentiation protocol for generation of induced pluripotent stem cell-derived basal forebrain-like cholinergic neurons for Alzheimer's disease and frontotemporal dementia disease modeling; Cells
A single-cell transcriptome atlas of the adult human retina; The EMBO Journal
A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients; Acta Diabetologica
A systematic meta-analysis of genetic association studies for diabetic retinopathy; Diabetes
AAV-mediated CRISPR/Cas gene editing of retinal cells in vivo; Investigative Ophthalmology & Visual Science
Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma; Investigative Ophthalmology and Visual Science
Advances in telemetric continuous intraocular pressure assessment; British Journal of Ophthalmology
Age-dependent regional retinal nerve fibre changes in SIX1/SIX6 polymorphism; Scientific Reports
An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell Research; Cell Stem Cell
An intraocular pressure polygenic risk score stratifies multiple primary open-angle glaucoma parameters including treatment intensity; Ophthalmology
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma; Scientific Reports
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
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci; Human Genetics
Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa; Molecular Vision
Approach for in vivo delivery of CRISPR/Cas system: a recent update and future prospect; Cellular and Molecular Life Sciences
Approach to evaluation the reliability and validity of conjunctival ultraviolet autofluorescence measurement; British Journal of Ophthalmology
Approaches for the sensitive detection of rare base and prime editing events; Methods
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 eNOS polymorphisms with primary angle-closure glaucoma; Investigative Ophthalmology and Visual Science (Iovs)
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
Association of genetic variants with primary angle closure glaucoma in two different populations; PLoS One
Association of genetic variation with keratoconus; JAMA Ophthalmology
Association of monogenic and polygenic risk with the prevalence of open-angle glaucoma; JAMA Ophthalmology
Association of myopia and intraocular pressure with retinal detachment in European descent participants of the UK Biobank cohort: a mendelian randomization study; JAMA Ophthalmology
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus; Investigative Ophthalmology and Visual Science
Association of TCF4 and CLU polymorphisms with Fuchs endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process; European Journal of Human Genetics
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
Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment; Clinical and Experimental Ophthalmology
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA; American Journal of Human Genetics
Automated cell culture systems and their applications to human pluripotent stem cell studies; SLAS Technology
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
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations; Eye
Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma; Ophthalmology
Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome; Experimental Eye Research
Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness; Molecular Vision
Cardiac Repair With a Novel Population of Mesenchymal Stem Cells Resident in the Human Heart; Stem Cell
Cardiovascular disease predicts structural and functional progression in early glaucoma; Ophthalmology
Central Corneal Thickness Is Highly Heritable: The Twin Eye Studies; Investigative Ophthalmology & Visual Science
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium; Scientific Reports
Choroidal thickness in young adults and its association with visual acuity; American Journal of Ophthalmology
Circulating biomarkers of diabetic retinopathy: a systematic review and meta-analysis; Diabetes Management
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 outcomes of a treat and extend regimen with intravitreal aflibercept injections in patients with diabetic macular edema: Experience in clinical practice; Ophthalmology and Therapy
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 sequence variation in the VEGFC gene is associated with diabetic retinopathy and diabetic macular edema; Ophthalmology
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
Comparative performance of the BGI and Illumina sequencing technology for single-cell RNA-sequencing; NAR Genomics and Bioinformatics
Comparing vision and macular thickness in neovascular age-related macular degeneration, diabetic macular oedema and retinal vein occlusion patients treated with intravitreal antivascular endothelial growth factor injections in clinical practice; BMJ Open Ophthalmology
Comparison of CRISPR/Cas endonucleases for in vivo retinal gene editing; Frontiers in Cellular Neuroscience
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
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)
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma; American Journal of Ophthalmology
Corneal Genetics: Using Ancestry to Dissect Quantitative Traits for Complex Disease Discovery; Investigative Ophthalmology & Visual Science
Corneal stiffness parameters are predictive of structural and functional progression in glaucoma suspect eyes; Ophthalmology
CRISPR/Cas-Mediated Knock-in of genetically encoded fluorescent biosensors into the AAVS1 locus of human-induced pluripotent stem cells; Methods in Molecular Biology
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases; Nature Communications
Crowd-sourced ontology for photoleukocoria: Identifying common internet search terms for a potentially important pediatric ophthalmic sign; Translational Vision Science and Technology
Culture variabilities of human iPSC-derived cerebral organoids are a major Issue for the modelling of phenotypes observed in Alzheimer's Disease; Stem Cell Reviews and Reports
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
Current understanding of the genetic architecture of rhegmatogenous retinal detachment; Ophthalmic Genetics
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4; OncoTarget
Defined medium conditions for the induction and expansion of human pluripotent stem cell-derived retinal pigment epithelium; Stem Cell Reviews and Reports
Defining conditions to direct human pluripotent stem cells towards the glaucoma-affected trabecular meshwork cell lineage; Narrowing the Gap Between Stem Cell Science and Cell Therapy
Defining conditions to direct human pluripotent stem cells towards the glaucoma-affected trabecular meshwork cell lineage; 2014 Australian Health and Medical Research Congress (AHMRC)
Development of a modular automated system for maintenance and differentiation of adherent human pluripotent stem cells; SLAS Discovery
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort; Molecular genetics and genomic medicine
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
DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma; Ophthalmic Genetics
DNA methylation landscape of ocular tissue relative to matched peripheral blood; Scientific Reports
Do levels of stress markers influence the retinal nerve fiber layer thickness in young adults?; Journal of Glaucoma
Don’t it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins; Clinical and Experimental Optometry
Drug discovery using induced pluripotent stem cell models of neurodegenerative and ocular diseases; Pharmacology and Therapeutics
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
Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: a prospective multi-site study; Clinical and Experimental Ophthalmology
Electrical Stimulation Promotes Cardiac Differentiation of Human Induced Pluripotent Stem Cells; Stem Cells International
Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma; Investigative Ophthalmology & Visual Science
Engineering domain-inlaid SaCas9 adenine base editors with reduced RNA off-targets and increased on-target DNA editing; Nature Communications
Enriched retinal ganglion cells derived from human embryonic stem cells; Scientific Reports
Epigenetic effects on eye diseases; Expert Review of Ophthalmology
Establishing risk of vision loss in Leber hereditary optic neuropathy; American Journal of Human Genetics
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
Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype; PLoS One
Explosion of ophthalmic collaborative research networks in Australia; Clinical and Experimental 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 transmission risk of infantile glaucoma in Australia; Ophthalmic Genetics
Follow-up of cataract surgery in remote people from the Top End of the Northern Territory; 6th National Rural Health Conference
Four novel loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo; PL o S Genetics
Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency; Aging
Functional and structural implications of the complement factor H Y402H polymorphism associated with Age-Related macular degeneration; Investigative Ophthalmology and Visual Science (Iovs)
Gene therapy for visual loss: opportunities and concerns; Progress in Retinal and Eye Research
Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?; Asia-Pacific Journal of Ophthalmology
Generation of a human induced pluripotent stem cell line CERAi001-A-6 using episomal vectors; Stem Cell Research
Generation of MNZTASi001-A, a human pluripotent stem cell line from a person with primary progressive multiple sclerosis; Stem Cell Research
Genetic analysis of the clusterin gene in pseudoexfoliation syndrome; Molecular Vision
Genetic and environmental factors in conjunctival UV autofluorescence; JAMA Ophthalmology
Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma; Investigative Ophthalmology and Visual Science
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci; Nature Genetics
Genetic correlations between diabetes and glaucoma: an analysis of continuous and dichotomous phenotypes; American Journal of Ophthalmology
Genetic diseases of the optic nerve head: from embryogenesis to pathogenesis; Expert Review of Ophthalmology
Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q; 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 study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics; Clinical and Experimental Ophthalmology
Genetic variants near PDGFRA are associated with corneal curvature in Australians; Investigative Ophthalmology and Visual Science (Iovs)
Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images; PLoS Genetics
Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study; International Journal of Epidemiology
Genome engineering in ophthalmology: Application of CRISPR/Cas to the treatment of eye disease; Progress in Retinal and Eye Research
Genome wide association meta analysis highlights light induced signaling as a driver for refractive error; Nature Genetics
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 corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error; Communications Biology
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 studies for diabetic macular edema and proliferative diabetic retinopathy; BMC Medical Genetics
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 for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene; Diabetologia
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 five new susceptibility loci for primary angle closure glaucoma; Nature Genetics
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1; Nature Genetics
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color; Science Advances
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma; Nature Genetics
Genome-wide association study of retinopathy in individuals without diabetes; PLoS One
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
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries; Nature Communications
Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration; Journal of Human Genetics
Genotype-free demultiplexing of pooled single-cell RNA-seq; Genome Biology
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia; Clinical and Experimental Ophthalmology
Geo-epidemiology of temporal artery biopsy-positive giant cell arteritis in Australia and New Zealand: is there a seasonal influence?; RMD Open
Giant cell arteritis: ophthalmic manifestations of a systemic disease; Graefe's Archive for Clinical and Experimental Ophthalmology
Giant-Cell Arteritis and Polymyalgia Rheumatica; New England Journal of Medicine
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
Google-based search of common blinding diseases: a reflection of public concerns; British Journal of Ophthalmology
Heritability of Central Corneal Thickness in Nuclear Families ; Investigative Ophthalmology and Visual Science (Iovs)
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
Heterogeneity of Human Research Ethics Committees and Research Governance Offices across Australia: An observational study; Australasian Medical Journal
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 significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania; Clinical and Experimental Ophthalmology
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network; Alzheimer's Research and Therapy
Human pluripotent stem cells for the modelling of diseases of the retina and optic nerve: toward a retina in a dish; Current Opinion in Pharmacology
Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration; Cell Reports
Identification of a candidate gene for astigmatism; Investigative Ophthalmology and Visual Science (Iovs)
Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry; Experimental Eye Research: An International Journal Devoted to Scientific Research on The Eye
Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia; Nature Communications
Identifying genetic biomarkers predicting response to anti-vascular endothelial growth factor injections in diabetic macular edema; International Journal of Molecular Sciences
Image-based quantitation of kainic acid-induced excitotoxicity as a model of neurodegeneration in Human iPSC-Derived Neurons; Methods in Molecular Biology
Improving parents' knowledge of early signs of paediatric eye disease: a double-blind randomized controlled trial; Clinical and Experimental Ophthalmology
Influence of photodynamic therapy for age related macular degeneration upon subjective vision related quality of life; Graefe'S Archive for Clinical and Experimental Ophthalmology
Influence of weather conditions on ophthalmic emergency presentations; Clinical and Experimental Ophthalmology
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis; PLoS One
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
Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds; Molecular Vision
Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic; Genome Medicine
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
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression; Nature genetics
Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis; BMC Medical Genomics
Macular ganglion cell-inner plexiform layer loss precedes peripapillary retinal nerve fiber layer loss in glaucoma with lower intraocular pressure; Ophthalmology
Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population; Molecular Vision
Measurement of systemic mitochondrial function in advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy; PLoS One
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
Methods of Retinal Ganglion Cell Differentiation From Pluripotent Stem Cells; Translational Vision Science & Technology
MicroRNA-related genetic variants are associated with diabetic retinopathy in type 1 diabetes mellitus; Investigative Ophthalmology & Visual Science
Missing X and Y: A review of participant ages in population-based eye studies; Clinical and Experimental Ophthalmology
Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma; Investigative Ophthalmology and Visual Science
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
Molecular aspects of eye development and regeneration in the Australian redclaw crayfish, Cherax quadricarinatus; Aquaculture and Fisheries
Mortality in primary open-angle glaucoma: ‘two cupped discs and a funeral’; Eye
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD); Journal of Neuroinflammation
Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial; Ultrasound in Obstetrics and Gynecology
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression; Nature Genetics
Mutation in TMEM98 in a large white kindred with Autosomal Dominant Nanophthalmos linked to 17p12-q12; JAMA Ophthalmology
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)
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 FCγR3B Copy Number Variation and Susceptibility to Biopsy-Proven Giant Cell Arteritis; Arthritis
Nosology and the glaucomas; Clinical and Experimental Ophthalmology
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 Evaluation in Optic Neuropathies : The Optic Disc Assessment Project; Ophthalmology
Optic disc morphology - Rethinking shape; Progress in Retinal and Eye Research
OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy; Mitochondrion
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
Peeking into the molecular trove of discarded surgical specimens; Clinical and Experimental Ophthalmology
Physical activity and cardiovascular fitness during childhood and adolescence: Association with retinal nerve fibre layer thickness in young adulthood; Journal of Glaucoma
Plurality in multi-disciplinary research: multiple institutional affiliations are associated with increased citations; PeerJ
Posterior capsule opacification after cataract surgery in remote Australian Aboriginal patients; Clinical and Experimental Ophthalmology
Potentials of cellular reprogramming as a novel strategy for neuroregeneration; Frontiers in Cellular Neuroscience
Precision medicine: drowning in a regulatory soup?; Journal of Law and the Biosciences
Predicting the future of genetic risk profiling of glaucoma: A narrative review; JAMA 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
Prevalence of Keratoconus Based on Scheimpflug Imaging: The Raine Study; 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
Profile of ocular trauma in the Solomon Islands; Clinical and Experimental Ophthalmology
Projected worldwide disease burden from giant cell arteritis by 2050; Journal of Rheumatology
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity; Nature 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
Rapid inexpensive genome-wide association using pooled whole blood; Genome Research
Rare and low-frequency coding variants alter human adult height; Nature
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma; Molecular Genetics & Genomic Medicine
Rationale and protocol for the 7- And 8-year longitudinal assessments of eye health in a cohort of young adults in the Raine Study; BMJ Open
Rationale, methods and baseline demographics of the Bhaktapur Glaucoma Study; Clinical and Experimental Ophthalmology
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
Registered report: Melanoma genome sequencing reveals frequent PREX2 mutations; E-life
Relationship between corneal thickness and optic disc damage in glaucoma; Clinical and Experimental Ophthalmology
Reliability and validity of conjunctival ultraviolet autofluorescence measurement; British Journal of Ophthalmology
Replication of genetic loci implicated in diabetic retinopathy; Investigative Ophthalmology and Visual Science (Iovs)
Research: Keep PubMed running at all costs; Nature: International Weekly Journal of Science
Response: Cycloplegia in refraction: age and cycloplegics; Acta Ophthalmologica
Retinal genes are differentially expressed in areas of primary versus secondary degeneration following partial optic nerve injury; PloS One
Retinal microvessels reflect familial vulnerability to psychotic symptoms: A comparison of twins discordant for psychotic symptoms and controls; Schizophrenia Research
Review of null hypothesis significance testing in the ophthalmic literature: are most 'significant' P values false positives?; Clinical and Experimental Ophthalmology
Risk alleles associated with neovascularization in a pachychoroid phenotype; Ophthalmology
Role of lysophosphatidic acid in the retinal pigment epithelium and photoreceptors; Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
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
Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant; Molecular Vision
Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene; Clinical and Experimental Ophthalmology
Sensitivity of confocal laser tomography versus optical coherence tomography in detecting advanced glaucoma; Clinical and Experimental Ophthalmology
Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells; Genome Biology
Single cell eQTL mapping identifies cell type specific genetic control of autoimmune disease; Science
Single cell RNA sequencing of stem cell-derived retinal ganglion cells; Scientific Data
Single-cell profiling identifies key pathways expressed by iPSCs cultured in different commercial media; iScience
Smartphone use in ophthalmology: what is their place in clinical practice?; Survey of Ophthalmology
Spectral-Domain Optical Coherence Tomography-Derived Characteristics of Bruch Membrane Opening in a Young Adult Australian Population; American Journal of Ophthalmology
Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells; Aging
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
Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility; Nature Communications
Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma; Molecular Vision
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases; PLoS One
The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study; Acta Ophthalmologica
The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure; Investigative Ophthalmology and Visual Science
The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population; Molecular Vision
The current state of stem cell therapy for ocular disease; Experimental Eye Research
The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus; BMC Ophthalmology
The effects of eight serum lipid biomarkers on age-related macular degeneration risk: a Mendelian randomization study; International Journal of Epidemiology
The evolution of a hospital based leg ulcer clinic; Primary Intention
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 power of genetic diversity in genome wide association studies of lipids; Nature
The relationship between optic disc parameters and female reproductive factors in young women; Asia-Pacific Journal of Ophthalmology
The relative contribution of the X chromosome to ocular phenotypes; Ophthalmic Genetics
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
The use of heterochromatic flicker photometry to determine macular pigment optical density in a healthy Australian population; Graefe's Archive for Clinical and Experimental Ophthalmology
The VEGF treatment of AMD switch study (The vTAS study); Asia-Pacific Journal of Ophthalmology
Time spent outdoors in childhood is associated with reduced risk of myopia as an adult; Scientific Reports
TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients; Molecular Vision
TLR4 polymorphism is not associated with biopsy proven giant cell arteritis; Clinical and Experimental Rheumatology
Tools for cup:disc ratio measurement. Letters to the Editor; Clinical and Experimental Ophthalmology
Transcriptomic profiling of human pluripotent stem cell-derived retinal pigment epithelium over time; Genomics, Proteomics and Bioinformatics
Translating the ENCyclopedia Of DNA Elements Project findings to the clinic: ENCODE's implications for eye disease; Clinical and Experimental Ophthalmology
Twins Eye Study in Tasmania (TEST): Rationale and methodology to recruit and examine twins; Twin Research and Human Genetics
Use of CRISPR/Cas ribonucleoproteins for high throughput gene editing of induced pluripotent stem cells; Methods
Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration; European Journal of Epidemiology
Uteroglobin and FLRG concentrations in aqueous humor are associated with age in primary open angle glaucoma patients; BMC Ophthalmology
Utility of self-destructing CRISPR/Cas constructs for targeted gene editing in the retina; Human Gene Therapy
Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis; Genes and Immunity
Vision impairment and refractive errors in refugees presenting to community optometry clinics in Victoria, Australia; Clinical and Experimental Optometry
Visual outcomes for remote Australian Aboriginal people after cataract surgery; Clinical and Experimental Ophthalmology
Vitreous biomarkers in diabetic retinopathy: a systematic review and meta-analysis; Journal of Diabetes and Its Complications
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
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness; Human Molecular Genetics

Research Projects

Bone marrow failure syndromes; Maddie Riewoldt's Vision (MRV)
CRISPR screen to identify key genes driving DFTD; University of Tasmania Foundation Inc (UTF)
CRISPR/Cas gene editing of Batten disease genes in patient-specific stem cells; Batten Disease Support and Research Association (BDSRA)
Developing CRISPR/Cas Library Screens for identifying Novel Cancer Therapies; University of Tasmania Foundation Inc (UTF)
From Discovery to therapy in genetic eye diseases; National Health & Medical Research Council (NHMRC)
Functional interrogation of a novel locus associated with the development of Giant Cell Arteritis; Royal Hobart Hospital Research Foundation (RHHRF)
Functional interrogation of loci associated with the regulation of haematopoiesis; Maddie Riewoldt's Vision (MRV)
Gaining new insights into metastatic bone tumours; Royal Hobart Hospital Research Foundation (RHHRF)
Harnessing genetics to halt the sneak thief of sight.; National Health & Medical Research Council (NHMRC)
High penetrance deleterious mutations in blinding glaucoma; National Health & Medical Research Council (NHMRC)
Identifying pathological pathways and putative therapeutics for the treatment of nervous system pathology in people with Multiple Sclerosis; Royal Hobart Hospital Research Foundation (RHHRF)
Investigating Batten disease-causing CLN3 mutations in patient-specific stem cells and neurons; Royal Hobart Hospital Research Foundation (RHHRF)
Investigating the utility of retinal Base-Editing; Royal Hobart Hospital Research Foundation (RHHRF)
Isogenic iPSC models with CLN3 variants for high throughput drug screening; Batten Disease Support and Research Association (BDSRA)
Molecular profiling to identify therapeutic targets for blinding diseases.; National Health & Medical Research Council (NHMRC)
Optimisation of CRISPR/Cas gene editing in the retina.; Bayer Pharma AG (BPAG)
Pre-clinical validation, optimisation, and safety profiling of CRISPR/Cas-base editing for PCDH15-related disease.; Medical Research Future Fund (MRFF)
Preclinical Development of Neuropeptide Y for the Treatment of Motor Neuron Disease; FightMND (FMND)
Proteomic analysis of exosomes from iPS cell-derived neurons with mislocalised TDP-43; Motor Neurone Disease Research Australia (MNDRA)
Rapid antibody development for improved cancer immunotherapy diagnostics; Royal Hobart Hospital Research Foundation (RHHRF)
Stem Cells Australia Special Research Initiative (extension to existing SRI); Australian Research Council (ARC)
Strong, fast, then none: development of novel promoters for gene-editing therapies; Retina Australia (RAus)
Targeting at risk relatives of glaucoma patients for early diagnosis and treatment (TARRGET); National Health & Medical Research Council (NHMRC)
Translating genetic determinants of glaucoma into better diagnosis and treatment; National Health & Medical Research Council (NHMRC)
Translating patient stem cells into personalised screens for age-related macular degeneration; Medical Research Future Fund (MRFF)
Using stem cells to understand glaucoma; Ophthalmic Research Institute of Australia (ORIA)
Development and validation of a gene editing therapy for CLN2-related disease

Research Candidate Supervision

A Novel Human Embryonic Stem Cell Derived Model of Trabecular Meshwork Tissue- Investigation of the Molecular Mechanisms of Complex Disease