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List of works by Alex W. Hewitt

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

scientific article published on 16 January 2016

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

scientific article

A Global Social Media Survey of Attitudes to Human Genome Editing

scientific article published in May 2016

A Need for Better Understanding Is the Major Determinant for Public Perceptions of Human Gene Editing

article

A Simple Cloning-free Method to Efficiently Induce Gene Expression Using CRISPR/Cas9

scientific article published on 20 November 2018

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

scientific article published on 02 September 2020

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 comparative analysis of high-throughput platforms for validation of a circulating microRNA signature in diabetic retinopathy

scientific article

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

scientific article

A drug-tunable Flt23k gene therapy for controlled intervention in retinal neovascularization

scientific article published on 15 September 2020

A genetic variant regulating miR-126 is associated with sight threatening diabetic retinopathy

scientific article published on 23 January 2015

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

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

scientific article published on 21 December 2015

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

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

scientific article published on February 2006

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

scientific article published on 11 December 2020

A single-cell transcriptome atlas of the adult human retina

scientific article published on 22 August 2019

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

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

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

scientific article published on 08 July 2009

AAV-Mediated CRISPR/Cas Gene Editing of Retinal Cells In Vivo.

scientific article published on June 2016

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

scientific article published on 30 January 2015

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

scientific article published in August 2015

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

scientific article published on 27 July 2020

Air Bubbles Introduced From Peripheral Intravenous Lines Into the Cerebral Venous System: Response

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

scientific article published in March 2016

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

scientific article published on 07 January 2020

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

scientific article published on 15 February 2018

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

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

scientific article published on 5 September 2008

Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa

scientific article

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 of Genetic Variation With Keratoconus

scientific article published on 19 December 2019

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

scientific article published on 30 April 2020

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

scientific article

Association of eNOS polymorphisms with primary angle-closure glaucoma

scientific article published in March 2013

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

scientific article

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

scientific article

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

scientific article published on 31 October 2011

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

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 Cell Culture Systems and Their Applications to Human Pluripotent Stem Cell Studies

scientific article published on 02 June 2017

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

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

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

scientific article published on 07 January 2020

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

scientific article published on 17 March 2016

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

scientific article

Cardiac Repair With a Novel Population of Mesenchymal Stem Cells Resident in the Human Heart

scientific article published on 16 July 2015

Cardiovascular Disease predicts structural and functional progression in early glaucoma

scientific article published on 27 July 2020

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

scientific article

Choroidal thickness in young adults and its association with visual acuity

scientific article published on 26 February 2020

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

scientific article

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

scientific article published on 20 April 2015

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

article

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 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

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

scientific article published on July 2006

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

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

scientific article published on 24 November 2020

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

scientific article

Correspondence. Tools for cup:disc ratio measurement

Corrigendum: Potentials of Cellular Reprogramming as a Novel Strategy for Neuroregeneration

scientific article published on 03 May 2019

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

scientific article published in June 2015

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

scientific article

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

scientific article published on 15 February 2018

Current Understanding of the Genetic Architecture of Rhegmatogenous Retinal Detachment

scientific article published on 12 January 2016

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

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

scientific article published on 21 December 2017

DNA methylation landscape of ocular tissue relative to matched peripheral blood

scientific article

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

scientific article published on 14 December 2015

Defined Medium Conditions for the Induction and Expansion of Human Pluripotent Stem Cell-Derived Retinal Pigment Epithelium

scientific article

Development of a Modular Automated System for Maintenance and Differentiation of Adherent Human Pluripotent Stem Cells

scientific article published on 13 March 2017

Disease severity of familial glaucoma compared with sporadic glaucoma

scientific article published in July 2006

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

scientific article published on 13 January 2015

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

scientific article published on 13 April 2020

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

scientific article

Drug discovery using induced pluripotent stem cell models of neurodegenerative and ocular diseases

scientific article published on 13 February 2017

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

Effect of acute modafinil ingestion on cognitive and physical performance following mental exertion

scientific article published on 07 June 2019

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

scientific article published on 12 January 2009

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

scientific article published on 07 February 2020

Electrical Stimulation Promotes Cardiac Differentiation of Human Induced Pluripotent Stem Cells.

scientific article

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

scientific article published on 18 April 2012

Engineering domain-inlaid SaCas9 adenine base editors with reduced RNA off-targets and increased on-target DNA editing

scientific article published on 25 September 2020

Enriched retinal ganglion cells derived from human embryonic stem cells

scientific article

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

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

scientific article published on 9 February 2016

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

scientific article

Explosion of ophthalmic collaborative research networks in Australia

scientific article published on 29 October 2012

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

Familial Transmission Risk of Infantile Glaucoma in Australia

article

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

scientific article published in October 2010

Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

scientific article

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

scientific article published on 8 February 2008

Gene therapy for visual loss: Opportunities and concerns

article

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

scientific article published on July 2016

Generation of a human induced pluripotent stem cell line CERAi001-A-6 using episomal vectors

scientific article published on 19 May 2017

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

scientific article

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

scientific article

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

scientific article published on 26 October 2007

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

scientific article published on 28 October 2013

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 engineering in ophthalmology: Application of CRISPR/Cas to the treatment of eye disease

scientific article published on 12 May 2016

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 studies for diabetic macular edema and proliferative diabetic retinopathy.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 February 2018

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

article

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

scientific article published on 27 July 2018

Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium

scientific article

Genome-wide association study of retinopathy in individuals without diabetes

scientific article

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

Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration

scientific article published on 10 April 2020

Genotype-free demultiplexing of pooled single-cell RNA-seq

scientific article published on 19 December 2019

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia

scientific article

Geo-epidemiology of temporal artery biopsy-positive giant cell arteritis in Australia and New Zealand: is there a seasonal influence?

scientific article published on 29 August 2017

Giant cell arteritis: ophthalmic manifestations of a systemic disease

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

Heritability of Central Corneal Thickness in Nuclear Families

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

Heterogeneity of Human Research Ethics Committees and Research Governance Offices across Australia: An observational study

scientific article published on 29 February 2016

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

scientific article published on December 2007

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network

scientific article published on 25 July 2018

Human pluripotent stem cells for the modelling of diseases of the retina and optic nerve: toward a retina in a dish

scientific article published on 04 October 2019

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

scientific article published on December 2013

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

scientific article

Identification of a candidate gene for astigmatism

scientific journal article

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

scientific article

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

scientific article published on 15 October 2020

Influence of photodynamic therapy for age related macular degeneration upon subjective vision related quality of life

scientific article published on 13 January 2006

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

scientific article published on 07 March 2020

Influence of weather conditions on ophthalmic emergency presentations

Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis

scientific article

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

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

scientific article published on 28 March 2007

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

scientific article published on 25 September 2017

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

scientific article

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

scientific article published on 23 July 2018

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

scientific article published on 22 March 2019

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

scientific article

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

scientific article published on 23 October 2015

Meta-analysis of 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

Methods for In Vivo CRISPR/Cas Editing of the Adult Murine Retina.

scientific article published in January 2018

Methods of Retinal Ganglion Cell Differentiation From Pluripotent Stem Cells

scientific article

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

scientific article published on 01 September 2019

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

scientific article published in Scientific Reports

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

Molecular aspects of eye development and regeneration in the Australian redclaw crayfish, Cherax quadricarinatus

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

scientific article published on 18 April 2016

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

scientific article published on 20 January 2020

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

scientific article

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 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

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

scientific article published on 10 January 2017

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

scientific article

No Association between FC γ R3B Copy Number Variation and Susceptibility to Biopsy-Proven Giant Cell Arteritis

scientific article published on 20 August 2013

Nosology and the glaucomas

scientific article published on 01 January 2006

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

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

scientific article

Optic Disc Evaluation in Optic Neuropathies

scientific article published on 03 December 2010

Optic disc morphology--rethinking shape

scientific article published on 10 June 2009

Orbital Air Embolism After Intravenous Injection

scientific article published on 01 December 2018

PAX6Mutations May Be Associated with High Myopia

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

PSEN1ΔE9, APPswe, and APOE4 Confer Disparate Phenotypes in Human iPSC-Derived Microglia

scientific article published on 12 September 2019

PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis

scientific article published on 7 April 2016

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

scientific article published on 14 June 2016

Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family ⬇️

scientific article published on August 10, 2011

Peeking into the molecular trove of discarded surgical specimens

scientific article published on 01 November 2016

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

scientific article published in 2018

Posterior capsule opacification after cataract surgery in remote Australian Aboriginal patients

scientific article

Potentials of Cellular Reprogramming as a Novel Strategy for Neuroregeneration

scientific article published on 30 November 2018

Predicting the Future of Genetic Risk Profiling of Glaucoma: A Narrative Review

scientific article published on 17 December 2020

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

scientific article

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

scientific article

Profile of ocular trauma in the Solomon Islands

scientific article published on July 2014

Projected worldwide disease burden from giant cell arteritis by 2050.

scientific article

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

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

article

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

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

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

scientific article published on 17 August 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

Rapid inexpensive genome-wide association using pooled whole blood

scientific article published on 03 October 2009

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

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, methods and baseline demographics of the Bhaktapur Glaucoma Study.

scientific article

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

scientific article

Registered report: Melanoma genome sequencing reveals frequent PREX2 mutations

scientific article

Relationship between corneal thickness and optic disc damage in glaucoma

scientific article published on 01 April 2005

Reliability and validity of conjunctival ultraviolet autofluorescence measurement.

scientific article

Replication of genetic loci implicated in diabetic retinopathy

scientific article

Reply

Research: Keep PubMed running at all costs

scientific article published in October 2013

Response: Cycloplegia in refraction: age and cycloplegics.

scientific article

Retinal genes are differentially expressed in areas of primary versus secondary degeneration following partial optic nerve injury

scientific article published on 9 February 2018

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

Retrograde Embolization to the Orbit: Response

scientific article published on 06 June 2019

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

scientific article published on 03 July 2015

Risk Alleles Associated with Neovascularization in a Pachychoroid Phenotype

scientific article published on 06 August 2016

Role of lysophosphatidic acid in the retinal pigment epithelium and photoreceptors.

scientific article published on 13 April 2018

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

scientific article published in February 2012

Screening for Diabetic Eye Disease among Samoan Adults: A Pilot Study.

scientific article

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

scientific article published on January 2007

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

scientific article published on 16 March 2019

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

scientific article published on 15 August 2014

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

scientific article published on 18 December 2018

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

scientific article

Single Cell RNA Sequencing of stem cell-derived retinal ganglion cells

Single cell RNA sequencing of stem cell-derived retinal ganglion cells.

scientific article published on 13 February 2018

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

scientific article published on 23 August 2018

Smartphone use in ophthalmology: What is their place in clinical practice?

scientific article published on 18 September 2019

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

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

scientific article published on 23 August 2017

TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients

scientific article

TLR4 polymorphism is not associated with biopsy proven giant cell arteritis

scientific article

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

scientific article

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

scientific article published in February 2018

The Ark: a customizable web-based data management tool for health and medical research.

scientific article

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

scientific article published on 31 December 2018

The VEGF Treatment of AMD Switch Study (The vTAS Study).

scientific article published in November 2017

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 using a novel biomarker of outdoor light exposure

scientific article published on July 2012

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

scientific article

The current state of stem cell therapy for ocular disease

article published in 2018

The current state of stem cell therapy for ocular disease

The effects of eight serum lipid biomarkers on age-related macular degeneration risk: a Mendelian randomization study

scientific article published on 19 November 2020

The heritability of general cognitive ability increases linearly from childhood to young adulthood

scientific article

The heritability of ocular traits

scientific article published on 19 September 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

scientific article

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

scientific article

The pathogenesis of the glaucomas: nature versus nurture

The power of genetic diversity in genome-wide association studies of lipids

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

scientific article published on 16 November 2011

The use of heterochromatic flicker photometry to determine macular pigment optical density in a healthy Australian population.

scientific article published on 5 January 2014

Transcriptomic Profiling of Human Pluripotent Stem Cell-derived Retinal Pigment Epithelium over Time

scientific article published on 08 December 2020

Translating the ENCyclopedia Of DNA Elements Project findings to the clinic: ENCODE's implications for eye disease

scientific article published on 29 July 2013

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

scientific article published on October 2009

Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration

scientific article published on 03 January 2020

Uteroglobin and FLRG concentrations in aqueous humor are associated with age in primary open angle glaucoma patients.

scientific article published on 27 February 2018

Utility of Self-Destructing CRISPR/Cas Constructs for Targeted Gene Editing in the Retina

scientific article published on 25 October 2019

Vision impairment and refractive errors in refugees presenting to community optometry clinics in Victoria, Australia

scientific article published on 26 November 2019

Vitreous biomarkers in diabetic retinopathy: a systematic review and meta-analysis

scientific article published on 04 October 2013

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

scientific article published on 5 June 2015

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

scientific article published on 19 March 2014

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

scientific article

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