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Yongmei Liu, C. Langefeld, S. Rich, 2006, European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology, Working Groups on Epidemiology & Prevention and Cardiac Rehabilitation and Exercise Physiology.

Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy

N. Petrovsky, M. Gillies, J. Craig, 2016, Diabetes & vascular disease research.

Diabetic Retinopathy Is Associated With Elevated Serum Asymmetric and Symmetric Dimethylarginines

N. Petrovsky, J. Craig, K. Burdon, 2009, Diabetes Care.

Genetic variation on chromosome 11 is associated with keratoconus

Bennet J. McComish, K. Taylor, J. Rotter, 2019 .

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

J. Craig, K. Burdon, P. Ebeling, 2014, Clinical endocrinology.

Differential Gene Expression Profiling of Orbital Adipose Tissue in Thyroid Orbitopathy.

B. Llamas, J. Craig, K. Burdon, 2015, Investigative ophthalmology & visual science.

Use of Corneal Biomechanical Measures as Endophenotypes for Understanding the Genetics of Keratoconus.

K. Burdon, 2019, JAMA ophthalmology.

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

M. Pirinen, P. Donnelly, C. Spencer, 2019, Nature Communications.

Edinburgh Research Explorer IMI - Myopia Genetics Report

Milly S. Tedja, Srujana, T. Lehtimäki, 2019 .

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

P. Mitchell, D. Mackey, A. Hewitt, 2012, Investigative ophthalmology & visual science.

Genetic and Environmental Risk Factors for Keratoconus.

S. E. Lucas, K. Burdon, S. Lucas, 2020, Annual review of vision science.

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

J. Craig, K. Burdon, S. Macgregor, 2016, Investigative ophthalmology & visual science.

Response : Stronger Association of CDKN 2 BAS 1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population

J. Craig, K. Burdon, S. Macgregor, 2016 .

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Xiaorong Liu, S. Maurer-Stroh, D. Mackey, 2016, The Journal of clinical investigation.

Pathogenic genetic variants identified in Australian families with paediatric cataract

James T. Elder, Bennet J. McComish, D. Mackey, 2022, BMJ Open Ophthalmology.

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

D. MacArthur, M. Coote, L. Kearns, 2020, Clinical genetics.

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

D. Mackey, A. Hewitt, L. Kearns, 2022, Molecular genetics & genomic medicine.

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

D. Mackey, A. Hewitt, E. Souzeau, 2017, G3: Genes, Genomes, Genetics.

Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study

C. Langefeld, S. Rich, D. Bowden, 2008, Diabetes & vascular disease research.

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

J. Craig, K. Burdon, T. Henderson, 2018, Clinical & experimental ophthalmology.

Generation and characterisation of four multiple sclerosis iPSC lines from a single family.

K. Young, K. Burdon, J. Charlesworth, 2022, Stem cell research.

Generation of MNZTASi001-A, a human pluripotent stem cell line from a person with primary progressive multiple sclerosis.

K. Young, A. Hewitt, K. Burdon, 2021, Stem cell research.

Glaucoma Association of Genetic Variants in the TMCO 1 Gene with Clinical Parameters Related to Glaucoma and Characterization of the Protein in the Eye

P. Mitchell, D. Mackey, A. Hewitt, 2012 .

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

S. Graham, A. Hewitt, E. Souzeau, 2019, Ophthalmology (Rochester, Minn.).

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

S. Graham, A. Hewitt, E. Souzeau, 2019, Ophthalmology.

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

D. Mackey, J. Rait, A. Hewitt, 2019, JAMA ophthalmology.

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

J. Dickinson, L. FitzGerald, D. Mackey, 2006, Clinical & experimental ophthalmology.

Mutational analysis of MIR184 in sporadic keratoconus and myopia.

P. Mitchell, C. Willoughby, R. Mills, 2013, Investigative ophthalmology & visual science.

Evaluating gap junction variants for a role in pediatric cataract: an overview of the genetic landscape and clinical classification of variants in the GJA3 and GJA8 genes

K. Burdon, Johanna L Jones, Johanna L. Jones, 2022, Expert Review of Ophthalmology.

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

D. Mackey, A. Hewitt, L. Kearns, 2020, Ophthalmology.

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

D. Mackey, J. Rait, A. Hewitt, 2017, European Journal of Human Genetics.

Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis

K. Burdon, A. Hardcastle, J. Dart, 2021, Investigative ophthalmology & visual science.

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

Bennet J. McComish, R. Krauss, C. Klaver, 2021, Communications Biology.

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

A. Urbani, R. Mills, J. Craig, 2019, Clinical & experimental ophthalmology.

Association of Genetic Variation With Keratoconus.

Bennet J. McComish, P. Mitchell, K. Taylor, 2019, JAMA ophthalmology.

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

Tin Aung, Paul Mitchell, Ching-Yu Cheng, 2013, Nature Genetics.

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

D. Siscovick, G. Montgomery, K. Taylor, 2011, Investigative ophthalmology & visual science.

Screening of the COL8A2 gene in an Australian family with early‐onset Fuchs’ endothelial corneal dystrophy

R. Mills, J. Craig, K. Burdon, 2014, Clinical & experimental ophthalmology.

Insights into keratoconus from a genetic perspective

K. Burdon, A. Vincent, 2013, Clinical & experimental optometry.

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

A. Hewitt, R. Mills, J. Craig, 2008, Human Genetics.

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

R. Mills, E. Souzeau, J. Craig, 2018, Molecular vision.

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

M. Brown, D. Mackey, S. Graham, 2017, Investigative ophthalmology & visual science.

The PITX3 gene in posterior polar congenital cataract in Australia.

D. Mackey, J. Craig, K. Burdon, 2006, Molecular vision.

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

R. Mills, E. Souzeau, J. Craig, 2018, PloS one.

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

Gabriëlle H S Buitendijk, Claire L. Simpson, David M. Evans, 2013, Nature Genetics.

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

M. Brown, R. Mills, E. Souzeau, 2017, Investigative ophthalmology & visual science.

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

Marko Hočevar, Kevin M. Brown, Florence Demenais, 2015, Nature Genetics.

Investigation of albinism genes in congenital esotropia.

J. Dickinson, D. Mackey, J. Stankovich, 2003, Molecular vision.

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

Blair H. Smith, Jeffrey E. Lee, G. Abecasis, 2020, Nature Genetics.

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

Kaanan P. Shah, M. McCarthy, B. Yaspan, 2018, Diabetes.

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

J. Haines, C. Klaver, P. Mitchell, 2020, Nature Genetics.

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

Blair H. Smith, Jeffrey E. Lee, G. Abecasis, 2020, Nature Genetics.

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

N. Martin, G. Montgomery, J. Beesley, 2018, Nature Genetics.

The Association Between Vitamin D and Multiple Sclerosis Risk: 1,25(OH)2D3 Induces Super-Enhancers Bound by VDR

Bennet J. McComish, K. Burdon, B. Taylor, 2019, Front. Immunol..

Genetically determined serum serine level has a novel causal effect on multiple sclerosis risk and predicts disability progression

S. Broadley, A. Ponsonby, K. Burdon, 2023, Journal of Neurology, Neurosurgery, and Psychiatry.

Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci

G. Cuéllar-Partida, K. Burdon, Yuan Zhou, 2021, Multiple sclerosis.

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

H. Stefánsson, A. Sigurdsson, A. Jonasdottir, 2010, Nature Genetics.

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

J. Craig, K. Burdon, R. Casson, 2014, Clinical & experimental ophthalmology.

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

J. Haines, P. Mitchell, L. Pasquale, 2018, Scientific Reports.

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

G. Montgomery, D. Mackey, G. Radford-Smith, 2015, Investigative ophthalmology & visual science.

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.

Adriana I. Iglesias, A. Hofman, A. Uitterlinden, 2015, Human molecular genetics.

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

Janey L. Wiggs, Paul Mitchell, Jonathan L. Haines, 2014, Nature Genetics.

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

A. Hewitt, E. Souzeau, J. Craig, 2014, JAMA ophthalmology.

Identifying Genetic Risk Factors for Diabetic Macular Edema and the Response to Treatment

Bennet J. McComish, L. FitzGerald, K. Burdon, 2020, Journal of diabetes research.

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2020, Scientific Reports.

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

P. Mitchell, Jie-Jin Wang, D. Mackey, 2011, Molecular vision.

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

J. Haines, Y. Kamatani, L. Pasquale, 2018, Human molecular genetics.

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2017, Genome Medicine.

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

Adriana I. Iglesias, A. Hofman, A. Uitterlinden, 2017, Human molecular genetics.

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

P. Mitchell, Jie-Jin Wang, D. Mackey, 2007, Human molecular genetics.

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

D. Mackey, I. Goldberg, A. Hewitt, 2015, JAMA ophthalmology.

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

N. Voelcker, A. Hewitt, J. Craig, 2016, Experimental eye research.

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

G. Montgomery, A. D. den Hollander, R. Guymer, 2016, Scientific Reports.

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

Gabriëlle H S Buitendijk, David M. Evans, A. Hofman, 2013, Nature Genetics.

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

J. Dickinson, D. Mackey, J. Craig, 2004, Journal of Medical Genetics.

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

David A. Mackey, Alex W. Hewitt, Kathryn P. Burdon, 2016, Translational vision science & technology.

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

E. Souzeau, J. Craig, K. Burdon, 2014, Genetics in Medicine.

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

Nikolai Petrovsky, Jamie E Craig, Dinesh Selva, 2009, Investigative ophthalmology & visual science.

Ocular Expression and Distribution of Products of the POAG-Associated Chromosome 9p21 Gene Region

J. Craig, K. Burdon, R. Casson, 2013, PloS one.

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

J. Craig, K. Burdon, R. Casson, 2018, Molecular genetics & genomic medicine.

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

Colin A. Johnson, G. Taylor, J. Craig, 2011, American journal of human genetics.

A Turkish family with Nance-Horan Syndrome due to a novel mutation.

K. Burdon, E. Tuğ, F. Percin, 2013, Gene.

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

D. Mackey, A. Hewitt, E. Souzeau, 2022, medRxiv.

The utility of genomic testing in the ophthalmology clinic: A review

K. Burdon, 2021, Clinical & experimental ophthalmology.

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

J. Gécz, B. Lorenz, J. Craig, 2008, Molecular vision.

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance‐Horan syndrome in the extended family

K. Burdon, Y. Yaron, A. Reches, 2007, Prenatal diagnosis.

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

J. Gécz, J. Craig, K. Burdon, 2009, American journal of medical genetics. Part A.

Investigations of cataract genetics

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A novel locus for X-linked congenital cataract on Xq24

K. Friend, J. Gécz, D. Mackey, 2008, Molecular vision.

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

D. Mackey, L. Kearns, E. Souzeau, 2015, Molecular vision.

Occurrence of CYP 1 B 1 Mutations in Juvenile Open-Angle GlaucomaWith Advanced Visual Field Loss

D. Mackey, I. Goldberg, A. Hewitt, 2015 .

CYP 1 B 1 copy number variation is not a major contributor to primary congenital glaucoma

D. Mackey, L. Kearns, E. Souzeau, 2015 .

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

G. Montgomery, J. Craig, K. Burdon, 2016, BMC Genomics.

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

G. Montgomery, J. Craig, K. Burdon, 2016, Investigative ophthalmology & visual science.

Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema

Bennet J. McComish, L. FitzGerald, A. Hewitt, 2022, International journal of molecular sciences.

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

Kaanan P. Shah, M. McCarthy, L. Groop, 2018, Acta ophthalmologica.

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

M. Brown, N. Petrovsky, A. Jenkins, 2018, BMC Medical Genetics.

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

R. Klein, B. Klein, A. Price, 2017, Diabetes.

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

M. Brown, N. Petrovsky, A. Jenkins, 2015, Diabetologia.

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

Claire L. Simpson, David M. Evans, C. Gieger, 2016, Scientific Reports.

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

Adriana I. Iglesias, Claire L. Simpson, A. Hofman, 2014, Nature Genetics.

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

A. Hewitt, R. Mills, E. Souzeau, 2017, PloS one.

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

Adriana I. Iglesias, M. Pirinen, P. Donnelly, 2014, Nature Communications.

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO 1 and CDKN 2 BAS 1

M. Brown, P. Mitchell, N. Martin, 2011 .

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

D. Mackey, J. Craig, K. Burdon, 2007, Human mutation.

Variants of the CD40 gene but not of the CD40L gene are associated with coronary artery calcification in the Diabetes Heart Study (DHS).

C. Langefeld, S. Rich, D. Bowden, 2006, American heart journal.

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

M. Brown, D. Mackey, S. Graham, 2016, Molecular genetics & genomic medicine.

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

M. Nöthen, M. Brown, Y. Teo, 2015, Nature Genetics.

Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy

Bennet J. McComish, K. Burdon, J. Charlesworth, 2018 .

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

N. Petrovsky, A. Jenkins, E. Lamoureux, 2015, Ophthalmology.

Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.

D. Bowden, B. Freedman, G. Hawkins, 2005, Kidney international.

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

S. R. Krishnadas, Chaw Chaw Khaing, Y. Teo, 2016, Nature Genetics.

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

S. R. Krishnadas, J. Haines, Y. Teo, 2015, Human molecular genetics.

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

A. Hewitt, J. Craig, K. Burdon, 2011, Molecular vision.

Genome‐wide association studies in the hunt for genes causing primary open‐angle glaucoma: a review

K. Burdon, 2012, Clinical & experimental ophthalmology.

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

P. Mitchell, Jie-Jin Wang, D. Mackey, 2016, Investigative ophthalmology & visual science.

Genetic Association at the 9 p 21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

P. Mitchell, Jie-Jin Wang, D. Mackey, 2016 .

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

P. Mitchell, D. Mackey, A. Hewitt, 2012, Ophthalmology.

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

A. Hewitt, R. Mills, J. Craig, 2012, Investigative ophthalmology & visual science.

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

D. Mackey, S. Graham, I. Goldberg, 2019, JAMA ophthalmology.

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

D. Mackey, S. Graham, I. Goldberg, 2017, Ophthalmology.

Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.

D. Mackey, I. Goldberg, A. Hewitt, 2013, Ophthalmology.

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

P. Mitchell, Jie-Jin Wang, S. Graham, 2018, Ophthalmic genetics.

Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations

A. Hewitt, J. Craig, K. Burdon, 2013, PloS one.

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

A. Hewitt, J. Craig, K. Burdon, 2012, Molecular vision.

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

A. Hewitt, J. Craig, K. Burdon, 2011, Molecular vision.

Association of eNOS polymorphisms with primary angle-closure glaucoma.

A. Hewitt, J. Craig, K. Burdon, 2013, Investigative ophthalmology & visual science.

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

E. Souzeau, J. Craig, K. Burdon, 2016, European Journal of Human Genetics.

Human Lipoxygenase Pathway Gene Variation and Association with Markers of Subclinical Atherosclerosis in the Diabetes Heart Study

Yongmei Liu, C. Langefeld, S. Rich, 2010, Mediators of inflammation.

MALDI-MS-imaging of whole human lens capsule.

N. Voelcker, J. Craig, K. Burdon, 2011, Journal of proteome research.

A Systematic Meta-Analysis of Genetic Association Studies for Diabetic Retinopathy

A. Hewitt, J. Craig, K. Burdon, 2009, Diabetes.

Association between erythropoietin gene polymorphisms and diabetic retinopathy.

N. Petrovsky, J. Craig, K. Burdon, 2010, Archives of ophthalmology.

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

Adriana I. Iglesias, A. Hofman, A. Uitterlinden, 2015, Genetic epidemiology.

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

Paul Mitchell, Nicholas G. Martin, Grant W. Montgomery, 2010, PLoS genetics.

Association of arachidonate 12-lipoxygenase genotype variation and glycemic control with albuminuria in type 2 diabetes.

Yongmei Liu, C. Langefeld, S. Rich, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Association of alpha2-Heremans-Schmid glycoprotein polymorphisms with subclinical atherosclerosis.

C. Langefeld, J. Carr, S. Rich, 2007, The Journal of clinical endocrinology and metabolism.

Heritability and Expression of C‐Reactive Protein in Type 2 Diabetes in the Diabetes Heart Study

Yongmei Liu, C. Langefeld, D. Bowden, 2006, Annals of human genetics.

Association of protein tyrosine phosphatase-N1 polymorphisms with coronary calcified plaque in the Diabetes Heart Study.

J. L. Bento, C. Langefeld, S. Rich, 2006, Diabetes.

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

N. Petrovsky, A. Jenkins, M. Gillies, 2014, Clinical and Experimental Ophthalmology.

Bennet J. McComish, N. Petrovsky, A. Jenkins, 2019, Investigative ophthalmology & visual science.

Diabetic macular oedema: clinical risk factors and emerging genetic influences

J. Craig, K. Burdon, Ebony Liu, 2017, Clinical & experimental optometry.

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

J. Tong, S. Ranganathan, J. Hoh, 2008, Investigative ophthalmology & visual science.

Review of the prevalence of diabetic retinopathy in Indigenous Australians

R. Mills, J. Craig, K. Burdon, 2014, Clinical & experimental ophthalmology.

Variability of serum soluble intercellular adhesion molecule-1 measurements attributable to a common polymorphism.

K. Lohman, B. Nicklas, F. Hsu, 2004, Clinical chemistry.

Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family

E. Souzeau, J. Craig, K. Burdon, 2013, Human mutation.

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

Maria K. Swift, B. Klein, Y. Teo, 2020, Communications Biology.

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

S. Sivaprasad, N. Petrovsky, A. Jenkins, 2016, Acta Diabetologica.

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

K. Burdon, I. Russell-Eggitt, M. G. Wirth, 2007 .

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

B. Patterson, D. Mackey, A. Hewitt, 2005, British Journal of Ophthalmology.

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Adriana I. Iglesias, T. Lehtimäki, J. Jonas, 2021, Communications Biology.

Association analysis of genes in the renin‐angiotensin system with subclinical cardiovascular disease in families with Type 2 diabetes mellitus: The Diabetes Heart Study

C. Langefeld, D. Bowden, B. Freedman, 2006, Diabetic medicine : a journal of the British Diabetic Association.

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

D. Mackey, S. Graham, A. Hewitt, 2015, American journal of ophthalmology.

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

Bennet J. McComish, L. FitzGerald, K. Burdon, 2021, BMJ Open Ophthalmology.

Epha2 genotype influences ultraviolet radiation induced cataract in mice.

D. Mackey, J. Craig, K. Burdon, 2019, Experimental eye research.

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Gabriëlle H S Buitendijk, Alan M. Kwong, R. T. Smith, 2017, Genome Medicine.

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

N. Petrovsky, A. Jenkins, E. Lamoureux, 2019, Scientific Reports.

Sequence Variation in DDAH1 and DDAH2 Genes Is Strongly and Additively Associated with Serum ADMA Concentrations in Individuals with Type 2 Diabetes

N. Petrovsky, J. Craig, K. Burdon, 2010, PloS one.

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

N. Petrovsky, J. Craig, K. Burdon, 2012, Journal of diabetes and its complications.

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

Kathryn P. Burdon, Theresa Casey, Jamie E. Craig, 2017, BMC Medical Genetics.

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

P. Mitchell, Jie-Jin Wang, D. Mackey, 2012, American journal of ophthalmology.

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

J. Gécz, D. Mackey, J. Craig, 2021, European Journal of Human Genetics.

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

Kaanan P. Shah, M. McCarthy, L. Groop, 2018, Acta ophthalmologica.

Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice

Bennet J. McComish, L. FitzGerald, A. Hewitt, 2023, International Journal of Retina and Vitreous.

Aldose Reductase Gene Polymorphisms and Diabetic Retinopathy Susceptibility

N. Petrovsky, J. Craig, K. Burdon, 2010, Diabetes Care.

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

D. Mackey, S. Bhattacharya, J. Craig, 2009, Human mutation.

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

M. Nöthen, M. Brown, Y. Teo, 2015, Nature Genetics.

A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Jonathan H. Morgan, Adriana I. Iglesias, Kristina L. H. Lee, 2023, EBioMedicine.

The genetic and clinical landscape of nanophthalmos in an Australian cohort

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Does the association between TMEM98 and nanophthalmos require further confirmation?-Reply.

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Mutation in TMEM 98 in a Large White Kindred with Autosomal Dominant Nanophthalmos Linked to 17 p 12-q 12

E. Souzeau, J. Craig, K. Burdon, 2016 .

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome

P. Mitchell, Jie-Jin Wang, D. Mackey, 2008, Molecular vision.

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

P. Mitchell, D. Mackey, A. Hewitt, 2010, Molecular vision.

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

J. Dickinson, D. Mackey, J. Craig, 2003, The British journal of ophthalmology.

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

E. Souzeau, J. Craig, K. Burdon, 2014, Gene.

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

J. Craig, K. Burdon, J. Landers, 2015, Clinical & experimental ophthalmology.

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

E. Souzeau, J. Craig, K. Burdon, 2016, BMC Medical Genetics.

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

E. Souzeau, J. Craig, K. Burdon, 2016, BMC Research Notes.

Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation

D. Bowden, G. Hawkins, K. Burdon, 2004, British journal of haematology.

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

Ivana K. Kim, Gabriëlle H S Buitendijk, Alan M. Kwong, 2015, Nature Genetics.

Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia

P. Mitchell, Jie-Jin Wang, D. Mackey, 2013, PloS one.

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

Tiger Zhou, Stuart MacGregor, Stuart Graham, 2017, PloS one.

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

Jonathan H. Morgan, Adriana I. Iglesias, C. Sudlow, 2019, Communications Biology.

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

Ivana K. Kim, Gabriëlle H S Buitendijk, Alan M. Kwong, 2015, Nature Genetics.

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

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

M. Brown, R. Mills, E. Souzeau, 2017, Investigative ophthalmology & visual science.

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

Jonathan H. Morgan, M. P. Concas, Adriana I. Iglesias, 2018, Nature Genetics.

Glaucoma Multi-trait genome-wide association study identifies new loci associated with optic

Jonathan H. Morgan, C. Sudlow, J. Gallacher, 2019 .

Glaucoma Multi-trait genome-wide association study identifies new loci associated with optic

Jonathan H. Morgan, J. Gallacher, U. Thorsteinsdóttir, 2019 .

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

Jonathan H. Morgan, Adriana I. Iglesias, Kristina L. H. Lee, 2021, JAMA ophthalmology.

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

Jonathan H. Morgan, Adriana I. Iglesias, C. Sudlow, 2020, Communications Biology.

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

David M. Evans, A. Uitterlinden, T. Spector, 2017, Nature Communications.

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

Kaanan P. Shah, L. Groop, A. Price, 2018 .

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

D. Mackey, R. Maas, S. Lachke, 2008, Molecular vision.

Keratoconus International Consortium (KIC)- advancing keratoconus research

S. Natarajan, R. Mills, K. Burdon, 2023, BMC Ophthalmology.

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

G. Montgomery, J. Craig, K. Burdon, 2016, BMC Genomics.

Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms

N. Petrovsky, J. Craig, K. Burdon, 2009, Molecular vision.

Rapid and efficient cataract gene evaluation in F0 zebrafish using CRISPR-Cas9 ribonucleoprotein complexes.

K. Burdon, Guei-Sheung Liu, J. Charlesworth, 2021, Methods.

Macular GCIPL loss precedes peripapillary RNFL loss in glaucoma with lower intraocular pressure

S. Graham, A. Hewitt, K. Burdon, 2019 .

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

N. Petrovsky, J. Craig, K. Burdon, 2009, Investigative ophthalmology & visual science.

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Xiaorong Liu, S. Maurer-Stroh, D. Mackey, 2016, The Journal of clinical investigation.

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Adriana I. Iglesias, Claire L. Simpson, T. Lehtimäki, 2023, Communications Biology.

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

D. Schadendorf, S. Puig, E. Gillanders, 2015, Nature Genetics.

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

J. Gécz, J. Craig, K. Burdon, 2010, BMC Medical Genetics.

A novel locus for X-linked congenital cataract on Xq24

K. Friend, J. Gécz, D. Mackey, 2008, Molecular vision.

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

J. Craig, K. Burdon, J. Landers, 2019, Clinical & experimental ophthalmology.

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

N. Petrovsky, A. Jenkins, M. Gillies, 2013, Clinical & experimental ophthalmology.

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

D. Mackey, S. Graham, I. Goldberg, 2017, Ophthalmology.

Genome-wide association study on a large multi-ethnic sample identifies new genetic loci that predispose to keratoconus

S. Tuft, C. Hammond, P. Hysi, 2019 .

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS

J. Craig, K. Burdon, Shiwani Sharma, 2016, Molecular vision.

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

J. Gécz, J. Craig, K. Burdon, 2009, American journal of medical genetics. Part A.

Role of direct‐to‐consumer genetic testing for complex disease in diagnostics and research

K. Burdon, 2015, Clinical & experimental ophthalmology.

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

D. Mackey, S. Yazar, J. Craig, 2017, Ophthalmic genetics.

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

K. Burdon, Jamie E Craig, Emmanuelle Souzeau, 2015, Clinical genetics.

The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population.

U. Thorsteinsdóttir, C. Klaver, P. Keane, 2024, Ophthalmology. Glaucoma.

Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility.

L. FitzGerald, K. Burdon, Dannielle E O'Malley, 2023, British journal of cancer.

Insights into keratoconus from a genetic perspective

K. Burdon, A. Vincent, 2013, Clinical & experimental optometry.