Profiles
Kathryn Burdon
Kathryn Burdon
Professorial Research Fellow Genetics and Cancer
Menzies Institute for Medical Research
Hobart CBD Campuses
+61 3 6226 4288 (phone)
In Australia, around one in every fifty people suffers from blindness or vision impairment that cannot be corrected by glasses. This proportion is expected to grow as the Australian population ages. Among Australians aged 55 years and older, around 10 per cent experience vision loss and blindness.
Professor Kathryn Burdon at the Menzies Institute for Medical Research studies the genetic factors involved in eye diseases that cause loss of vision. Genes are known to play a role in some of the most common eye diseases – like glaucoma, cataracts and diabetic retinopathy. This genetic link is particularly strong in diseases that affect children and young adults, like childhood cataracts and keratoconus, a disease of the cornea at the front of the eye. In diseases that affect older people, the causes tend to be a complex interplay of genetic and environmental factors.
‘Having a detailed understanding of the genetic risk factors involved in each disease of the eye can make a tremendous difference,’ Professor Burdon says. ‘Where specific genetic mutations are known to be linked with eye diseases, we can screen people who are at risk. Identifying people with the mutation before they start showing symptoms allows us to intervene with treatments at an early stage.’
For diseases where the genetic causes are not known, Professor Burdon and her team carry out ‘gene discovery’. ‘We do whole genome sequencing where we investigate the entire genetic material – the DNA – of people with and without the diseases. We then compare this huge amount of information using the Menzies Institute’s supercomputer to see what is different in the genes of people with the disease.’
For their research, Professor Burdon and her colleagues at the Menzies Institute maintain the Tasmanian Ophthalmic Biobank. It contains blood or saliva samples donated by people with and without eye diseases from which DNA can be extracted. ‘This is a fantastic resource for the kind of research my team does.’
Tasmania is a particularly good place to do research into the genetic factors involved in disease. ‘Tasmania has a relatively stable population with many large extended families and with good population records over many generations, going all the way back to the convict records. By combining our genetic analysis with these population records, we can trace the inheritance of particular genetic variations through several generations of a family and see how they correlate with diseases.’
Professor Burdon and her team take their research a step further. ‘We not only try to work out what genetic variations are associated with what diseases. We also investigate the role of that gene in healthy people and the precise mechanism by which the variation causes the disease.’ This detailed understanding opens up the possibility of developing new drug-based treatments.
Another area of research is looking at how the success of existing therapies is affected by genetic and environmental factors. For example, anti-VEGF – a common treatment for macular degeneration and diabetic retinopathy – is only successful in about 50 per cent of patients. ‘We are studying patients going through the 12-month course of treatment with anti-VEGF to see how particular genes, but also the frequency of injections and the severity of the disease before treatment starts, affect success rates. Knowing this will allow us to better target treatment to patients who will benefit from it.’
The thrill of discovery motivates Professor Burdon’s research. ‘It’s a thrill to know you have found something truly new. For a short while you are the only person in the world to know something important and then you share your discovery with the world.’
‘It’s especially exciting when you know your research can directly improve the quality of life of so many people.’
Biography
Prof Burdon was awarded her PhD in 2004 from the University of Tasmania. Following the completion of her thesis in 2003, she spent two years as a post-doctoral fellow at Wake Forest University Baptist Medical Center in North Carolina, USA, working on complex disease genetics, primarily the cardiovascular and renal complications of diabetes mellitus. On her return to Australia in 2005 she joined the Department of Ophthalmology at Flinders University where she ran a research group focused on the identification of genes for blinding diseases, including glaucoma, keratoconus and diabetic retinopathy. In early 2014 she has returned to the University of Tasmania to join the genetics theme at the Menzies Institute for Medical Research and establish an ocular genetics program. She has skills in both laboratory and analytical genetics, including PCR, genotyping, sequencing, linkage and association analysis and sequencing analysis and bioinformatics.
Career summary
Qualifications
- PhD, University of Tasmania, 2004, Australia. Thesis Title: Investigation of Cataract Genetics.
- BSc (Hons 1st Class) University of Tasmania, Australia,1999. Thesis title: The Analysis of Genes Involved in Melanin Synthesis in Relation to Congenital Esotropia.
Memberships
Committee associations
- Organising committee for Australasian GeneMapper's Meeting, 2011/2012, Convener 2014
- Co-director Flinders Genomics Facility (2012-2013)
- Deputy chair Southern Adelaide Clinical Research Ethics Committee (2011-2013)
- 2014-present - Committee member, Human Genetics Society of Australasia, VIC/TAS branch
Other
- Section Editor 'Genetics', Clinical and Experimental Ophthalmology (2014-current)
Teaching
Teaching responsibility
- CEA301 - Human Genetics
Research Appointments
Theme Leader; Genetics and Cancer, Menzies Institute for Medical Research
2014-present - Principal Research Fellow, Cancer, Genetics and Immunology, Menzies Institute for Medical Research Tasmania
2014-2018 - Senior Research Fellowship, National Health and Medical Research Council, Australia, administered by University of Tasmania
View more on Professor Kathryn Burdon in WARP
Research Themes
Prof Burdon's research aligns with one of the University's key research themes of Better Health. Her current research interest is in identification of genes for blinding diseases and how these genes can be used in clinical care. Prof Burdon has been working in the field of genetics for 15 years, beginning with the identification of the gene for Nance-Horan Syndrome during her PhD. Knowledge of the gene for this disease has since been used to perform pre-implantation diagnosis, pre-natal in utero diagnosis and genetic counselling for carriers and families of patients. She uses a variety of methodologies to interrogate the genome including linkage analysis in well-characterised families and association analysis at both gene and genome level. More recently, Prof Burdon has been conducting genome-wide association studies with recent publications in the areas of glaucoma and keratoconus and a large project underway in diabetic retinopathy. Current projects are utilizing 'Next Generation Sequencing' to undertake high throughput targeted and whole exome sequencing for the identification of rare variants contributing to both complex and Mendelian diseases.
Collaboration
Key local collaborations are with Prof Jamie Craig and Dr Shiwani Sharma at Flinders University and Assoc Prof Stuart Macgregor at Queensland Institute of Medical Research. Key international collaborations include Prof Colin Willoughby at University of Liverpool and A/Prof Andrea Vincent at Auckland University as well as multiple genetic consortia; CREAM (refractive error), IGGC (glaucoma) and AMD (age-related macular degeneration).
Awards
- 2014 Menzies Institute for Medical Research Ten of the Best Awards - Best paper of 2014
- 2010-2013 NHMRC Career Development Award
- 2010 Inagural Vice-Chancellor's Award for Early Career Researchers, Flinders University
- 2009 South Australia Young Tall Poppy Science Award
Fields of Research
- Ophthalmology (321201)
- Genomics (310509)
- Medical genetics (excl. cancer genetics) (320213)
- Gene mapping (310506)
- Neurogenetics (310511)
- Vision science (321204)
- Central nervous system (320903)
- Epidemiology (420299)
- Cellular nervous system (320902)
- Medical and health law (480412)
- Neurology and neuromuscular diseases (320905)
- Ophthalmology and optometry (321299)
- Statistical and quantitative genetics (310207)
- Genetics (310599)
- Cancer cell biology (321101)
- Bioethics (500101)
- Preventative health care (420605)
- Cardiology (incl. cardiovascular diseases) (320101)
- Clinical pharmacy and pharmacy practice (321403)
- Mental health services (420313)
- Immunogenetics (incl. genetic immunology) (320406)
- Endocrinology (320208)
- Autoimmunity (320403)
- Medical biochemistry - amino acids and metabolites (320501)
- Primary health care (420319)
- People with disability (420318)
- Sensory systems (320907)
- Information extraction and fusion (460507)
- Health promotion (420603)
- Medical ethics (500106)
- Health informatics and information systems (420308)
- Regenerative medicine (incl. stem cells) (320606)
- Health counselling (420307)
Research Objectives
- Clinical health (200199)
- Expanding knowledge in the biomedical and clinical sciences (280103)
- Diagnosis of human diseases and conditions (200101)
- Evaluation of health outcomes (200202)
- Treatment of human diseases and conditions (200105)
- Expanding knowledge in the health sciences (280112)
- Bioethics (130301)
- Other health (209999)
- Determinants of health (200201)
- Behaviour and health (200401)
- Law reform (230405)
- Prevention of human diseases and conditions (200104)
- Preventive medicine (200412)
- Mental health services (200305)
- Social structure and health (200207)
- Health status (incl. wellbeing) (200407)
- Neonatal and child health (200506)
- Adolescent health (200501)
- Health inequalities (200204)
Publications
Total publications
185
Highlighted publications
(5 outputs)| Year | Type | Citation | Altmetrics |
|---|---|---|---|
| 2017 | Journal Article | Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, et al., 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia', G3: Genes, Genomes, Genetics, 7, (10) pp. 3257-3268. ISSN 2160-1836 (2017) [Refereed Article] DOI: 10.1534/g3.117.300109 [eCite] [Details] Citations: Scopus - 17Web of Science - 17 Co-authors: Mackey DA; Hewitt AW | |
| 2014 | Journal Article | Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, et al., 'Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma', Nature Genetics, 46, (10) pp. 1120-1125. ISSN 1546-1718 (2014) [Refereed Article] DOI: 10.1038/ng.3079 [eCite] [Details] Citations: Scopus - 137Web of Science - 128 Co-authors: Hewitt AW; Mackey DA | |
| 2013 | Journal Article | Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, et al., 'Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus', Nature Genetics, 45, (2) pp. 155-163. ISSN 1061-4036 (2013) [Refereed Article] DOI: 10.1038/ng.2506 [eCite] [Details] Citations: Scopus - 210Web of Science - 221 Co-authors: Hewitt AW; Mackey DA | |
| 2011 | Journal Article | Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, et al., 'Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1', Nature Genetics, 43, (6) pp. 574-578. ISSN 1061-4036 (2011) [Refereed Article] DOI: 10.1038/ng.824 [eCite] [Details] Citations: Scopus - 323Web of Science - 317 Co-authors: Hewitt AW; Mackey DA | |
| 2003 | Journal Article | Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, et al., 'Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation', American Journal of Human Genetics, 73, (5) pp. 1120-1130. ISSN 0002-9297 (2003) [Refereed Article] DOI: 10.1086/379381 [eCite] [Details] Citations: Scopus - 99Web of Science - 93 Co-authors: McKay JD; Sale MM; Mackey DA; Fitzgerald LM; Stankovich J; Craig JE |
Journal Article
(181 outputs)| Year | Citation | Altmetrics |
|---|---|---|
| 2022 | Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, et al., 'Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel', Human Mutation, 43, (12) pp. 2170-2186. ISSN 1059-7794 (2022) [Refereed Article] DOI: 10.1002/humu.24482 [eCite] [Details] Citations: Scopus - 1Web of Science - 1 Co-authors: Graham P; Hewitt AW; Mackey DA | |
| 2022 | Fortune AJ, Taylor BV, Charlesworth JC, Burdon KP, Blackburn NB, et al., 'Generation and characterisation of four multiple sclerosis iPSC lines from a single family', Stem Cell Research, 62 Article 102828. ISSN 1873-5061 (2022) [Refereed Article] DOI: 10.1016/j.scr.2022.102828 [eCite] [Details] Citations: Scopus - 1 Co-authors: Fortune AJ; Taylor BV; Charlesworth JC; Blackburn NB; Fletcher JL; Mehta A; Young KM | |
| 2022 | Gurung RL, Fitzgerald LM, Liu E, McComish BJ, Kaidonis G, et al., 'Identifying genetic biomarkers predicting response to anti-vascular endothelial growth factor injections in diabetic macular edema', International Journal of Molecular Sciences, 23, (7) Article 4042. ISSN 1422-0067 (2022) [Refereed Article] DOI: 10.3390/ijms23074042 [eCite] [Details] Citations: Scopus - 2Web of Science - 1 Co-authors: Fitzgerald LM; McComish BJ; Hewitt AW; Vote BJ; Verma N | |
| 2022 | Gurung RL, Fitzgerald LM, Liu E, McComish BJ, Kaidonis G, et al., 'The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus', BMC Ophthalmology, 22, (1) Article 94. ISSN 1471-2415 (2022) [Refereed Article] DOI: 10.1186/s12886-022-02325-x [eCite] [Details] Co-authors: Fitzgerald LM; McComish BJ; Hewitt AW; Vote BJT; Verma N | |
| 2022 | Jones JL, Burdon KP, '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', Expert Review of Ophthalmology pp. 1-24. ISSN 1746-9899 (2022) [Refereed Article] DOI: 10.1080/17469899.2023.2160320 [eCite] [Details] Co-authors: Jones JL | |
| 2022 | Jones JL, McComish BJ, Staffieri SE, Souzeau E, Kearns LS, et al., 'Pathogenic genetic variants identified in Australian families with paediatric cataract', BMJ Open Ophthalmology, 7, (1) pp. 1-24. ISSN 2397-3269 (2022) [Refereed Article] DOI: 10.1136/bmjophth-2022-001064 [eCite] [Details] Citations: Scopus - 1Web of Science - 1 Co-authors: Jones JL; McComish BJ; Charlesworth JC | |
| 2022 | Lin X, Yang Y, Gresle M, Cuellar-Partida G, Han X, et al., 'Novel plasma and brain proteins that are implicated in multiple sclerosis', Brain ISSN 0006-8950 (2022) [Refereed Article] DOI: 10.1093/brain/awac420 [eCite] [Details] Co-authors: Simpson-Yap S; Fuh-Ngwa V; Charlesworth JC; Taylor BV; Zhou Y | |
| 2022 | Lin Xin, Yuanhao Y, Melton PE, Singh V, Simpson-Yap S, et al., 'Integrating Genetic structural variations and whole genome sequencing into clinical neurology', Neurology: Genetics, 8, (4) Article e200005. ISSN 2376-7839 (2022) [Refereed Article] DOI: 10.1212/NXG.0000000000200005 [eCite] [Details] Citations: Web of Science - 2 Co-authors: Melton PE; Singh V; Simpson-Yap S; Taylor BV; Zhou Y | |
| 2021 | Burdon K, 'The utility of genomic testing in the ophthalmology clinic: a review', Clinical and Experimental Ophthalmology ISSN 1442-9071 (2021) [Non Refereed Article] DOI: 10.1111/ceo.13970 [eCite] [Details] Citations: Scopus - 4Web of Science - 3 | |
| 2021 | Carnt NA, Pang I, Burdon KP, Calder V, Dart JK, et al., 'Innate and adaptive gene single nucleotide polymorphisms associated with susceptibility of severe inflammatory complications in Acanthamoeba keratitis', Investigative Ophthalmology and Visual Science, 62, (3) pp. 1-8. ISSN 0146-0404 (2021) [Refereed Article] DOI: 10.1167/iovs.62.3.33 [eCite] [Details] Citations: Web of Science - 3 | |
| 2021 | Chan E, Goggin M, Burdon K, Robbins SL, 'Editorial profiles', Clinical and Experimental Ophthalmology, 49, (3) pp. 215-216. ISSN 1442-6404 (2021) [Refereed Article] | |
| 2021 | Dave A, Craig JE, Alamein M, Skrzypiec K, Beltz J, et al., 'Genotype, age, genetic background, and sex influence Epha2-related cataract development in mice', Investigative Ophthalmology and Visual Science, 62, (12) Article 3. ISSN 0146-0404 (2021) [Refereed Article] DOI: 10.1167/iovs.62.12.3 [eCite] [Details] Citations: Scopus - 2Web of Science - 2 | |
| 2021 | Gurung RL, Fitzgerald LM, McComish BJ, Hewitt AW, Verma N, et al., '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, 6, (1) pp. 1-10. ISSN 2397-3269 (2021) [Refereed Article] DOI: 10.1136/bmjophth-2021-000749 [eCite] [Details] Citations: Scopus - 3Web of Science - 3 Co-authors: Fitzgerald LM; McComish BJ; Hewitt AW; Verma N | |
| 2021 | Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, et al., 'A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus', Communications Biology, 4, (1) Article 266. ISSN 2399-3642 (2021) [Refereed Article] DOI: 10.1038/s42003-021-01784-0 [eCite] [Details] Citations: Scopus - 20Web of Science - 18 Co-authors: McComish BJ; Lucas SEM; Charlesworth JC; Hewitt AW; Craig JE | |
| 2021 | Jones JL, Corbett MA, Yeaman E, Zhao D, Gecz J, et al., 'A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract', European Journal of Human Genetics ISSN 1018-4813 (2021) [Refereed Article] DOI: 10.1038/s41431-021-00889-8 [eCite] [Details] Citations: Scopus - 3Web of Science - 3 Co-authors: Jones JL; Yeaman E; Gasperini RJ; Charlesworth JC | |
| 2021 | Kuot A, Corbett MA, Mills RA, Snibson G, Wiffen S, et al., 'Differential gene expression analysis of corneal endothelium indicates involvement of phagocytic activity in Fuchs' endothelial corneal dystrophy', Experimental Eye Research, 210 pp. 1-10. ISSN 0014-4835 (2021) [Refereed Article] DOI: 10.1016/j.exer.2021.108692 [eCite] [Details] Citations: Scopus - 1 | |
| 2021 | Mehta A, Lu P, Taylor BVM, Charlesworth J, Cook AL, et al., 'Generation of MNZTASi001-A, a human pluripotent stem cell line from a person with primary progressive multiple sclerosis', Stem Cell Research, 57 pp. 1-4. ISSN 1873-5061 (2021) [Refereed Article] DOI: 10.1016/j.scr.2021.102568 [eCite] [Details] Citations: Scopus - 2Web of Science - 1 Co-authors: Mehta A; Taylor BVM; Charlesworth J; Cook AL; Hewitt AW; Young KM | |
| 2021 | Sobrin L, Susarla G, Stanwyck L, Rouhana JM, Li A, et al., 'Gene set enrichment analyses identify pathways involved in genetic risk for diabetic retinopathy', American Journal of Ophthalmology ISSN 0002-9394 (2021) [Refereed Article] DOI: 10.1016/j.ajo.2021.06.014 [eCite] [Details] Citations: Scopus - 4Web of Science - 4 | |
| 2021 | Zhao D, Jones JL, Gasperini RJ, Charlesworth JC, Liu G-S, et al., 'Rapid and efficient cataract gene evaluation in F0 zebrafish using CRISPR-Cas9 ribonucleoprotein complexes', Methods: A Companion to Methods in Enzymology ISSN 1046-2023 (2021) [Refereed Article] DOI: 10.1016/j.ymeth.2020.12.004 [eCite] [Details] Citations: Scopus - 6Web of Science - 6 Co-authors: Jones JL; Gasperini RJ; Charlesworth JC; Liu G-S | |
| 2021 | Zhou Y, Cuellar-Partida G, Simpson Yap S, Lin X, Claflin S, et al., 'Utilising multi-large omics data to elucidate biological mechanisms within multiple sclerosis genetic susceptibility loci', Multiple Sclerosis Journal Article online ahead of print. ISSN 1352-4585 (2021) [Refereed Article] DOI: 10.1177/13524585211004422 [eCite] [Details] Citations: Scopus - 2Web of Science - 2 Co-authors: Zhou Y; Simpson Yap S; Claflin S; Charlesworth J; Taylor BVM | |
| 2020 | Craig JE, Han X, Qassim A, Hassall M, Cooke Bailey JN, et al., 'Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression', Nature Genetics, 52, (2) pp. 160-166. ISSN 1061-4036 (2020) [Refereed Article] DOI: 10.1038/s41588-019-0556-y [eCite] [Details] Citations: Scopus - 104Web of Science - 90 Co-authors: Mackey DA; Hewitt AW | |
| 2020 | Gurung RL, Fitzgerald LM, McComish BJ, Verma N, Burdon KP, 'Identifying genetic risk factors for diabetic macular edema and the response to treatment', Journal of Diabetes Research Article 5016916. ISSN 2314-6745 (2020) [Refereed Article] DOI: 10.1155/2020/5016916 [eCite] [Details] Citations: Scopus - 7Web of Science - 5 Co-authors: Fitzgerald LM; McComish BJ; Verma N | |
| 2020 | Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, et al., 'Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility', Nature Genetics, 52, (5) pp. 494-504. ISSN 1061-4036 (2020) [Refereed Article] DOI: 10.1038/s41588-020-0611-8 [eCite] [Details] Citations: Scopus - 73Web of Science - 69 Co-authors: Moses EK | |
| 2020 | Lucas SEM, Burdon KP, 'Genetic and environmental risk factors for keratoconus', Annual Review of Vision Science, 6 pp. 25-46. ISSN 2374-4650 (2020) [Refereed Article] DOI: 10.1146/annurev-vision-121219-081723 [eCite] [Details] Citations: Scopus - 25Web of Science - 20 Co-authors: Lucas SEM | |
| 2020 | Siggs OM, Awadalla MS, Souzeau E, Staffieri SE, Kearns LS, et al., 'The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort', Clinical Genetics, 97, (5) pp. 764-769. ISSN 0009-9163 (2020) [Refereed Article] DOI: 10.1111/cge.13722 [eCite] [Details] Citations: Scopus - 9Web of Science - 8 | |
| 2020 | Siggs OM, Souzeau E, Taranath DA, Dubowsky A, Chappell A, et al., 'Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma', Ophthalmology, 127, (6) pp. 758-766. ISSN 0161-6420 (2020) [Refereed Article] DOI: 10.1016/j.ophtha.2019.12.024 [eCite] [Details] Citations: Scopus - 23Web of Science - 21 Co-authors: Hewitt AW; Mackey DA | |
| 2020 | Yonova-Doing E, Zhao W, Igo Jr RP, Wang C, Sundaresan P, et al., 'Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract', Communications Biology, 3, (1) Article 755. ISSN 2399-3642 (2020) [Refereed Article] DOI: 10.1038/s42003-020-01421-2 [eCite] [Details] Citations: Scopus - 5Web of Science - 3 | |
| 2019 | Burdon KP, 'Use of corneal biomechanical measures as endophenotypes for understanding the genetics of keratoconus', JAMA Ophthalmology, (June) pp. E1-E2. ISSN 2168-6165 (2019) [Non Refereed Article] | |
| 2019 | Dave A, Craig JE, Skrzypiec K, Quinn S, Barnes M, et al., 'Epha2 genotype influences ultraviolet radiation induced cataract in mice', Experimental Eye Research, 188 Article 107806. ISSN 0014-4835 (2019) [Refereed Article] DOI: 10.1016/j.exer.2019.107806 [eCite] [Details] Citations: Scopus - 9Web of Science - 7 Co-authors: Mackey DA | |
| 2019 | Kuot A, Ronci M, Mills R, Klebe S, Snibson G, et al., 'Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy', Clinical and Experimental Ophthalmology, 47, (8) pp. 1028-1042. ISSN 1442-6404 (2019) [Refereed Article] DOI: 10.1111/ceo.13569 [eCite] [Details] Citations: Scopus - 4Web of Science - 4 | |
| 2019 | Liu E, Estevez J, Kaidonis G, Hassall M, Phillips R, et al., 'Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: a population-based audit', Clinical and Experimental Ophthalmology, 47, (5) pp. 598-604. ISSN 1442-6404 (2019) [Refereed Article] DOI: 10.1111/ceo.13466 [eCite] [Details] Citations: Scopus - 4Web of Science - 6 | |
| 2019 | Liu E, Kaidonis G, Gillies MC, Abhary S, Essex RW, et al., 'Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample', Scientific Reports, 9, (1) Article 612. ISSN 2045-2322 (2019) [Refereed Article] DOI: 10.1038/s41598-018-37388-8 [eCite] [Details] Citations: Scopus - 2Web of Science - 4 | |
| 2019 | Liu E, Kaidonis G, McComish BJ, Gillies MC, Abhary S, et al., 'MicroRNA-related genetic variants are associated with diabetic retinopathy in type 1 diabetes mellitus', Investigative Ophthalmology & Visual Science, 60, (12) pp. 3937-3942. ISSN 1552-5783 (2019) [Refereed Article] DOI: 10.1167/iovs.18-25570 [eCite] [Details] Citations: Scopus - 9Web of Science - 10 Co-authors: McComish BJ; Hewitt AW | |
| 2019 | Lu M, McComish BJ, Burdon KP, Taylor BV, Korner H, 'The association between vitamin D and multiple sclerosis risk: 1,25(OH)2D3 induces super-enhancers bound by VDR', Frontiers in Immunology, 10 Article 488. ISSN 1664-3224 (2019) [Refereed Article] DOI: 10.3389/fimmu.2019.00488 [eCite] [Details] Citations: Scopus - 17Web of Science - 17 Co-authors: McComish BJ; Taylor BV; Korner H | |
| 2019 | Marshall HN, Andrew NH, Hassall M, Qassim A, Souzeau E, et al., 'Macular ganglion cell-inner plexiform layer loss precedes peripapillary retinal nerve fiber layer loss in glaucoma with lower intraocular pressure', Ophthalmology, 126, (8) pp. 1119-1130. ISSN 0161-6420 (2019) [Refereed Article] DOI: 10.1016/j.ophtha.2019.03.016 [eCite] [Details] Citations: Scopus - 23Web of Science - 20 Co-authors: Hewitt AW | |
| 2019 | McComish BJ, Sahebjada S, Bykhovskaya Y, Willoughby CE, Richardson AJ, et al., 'Association of genetic variation with keratoconus', JAMA Ophthalmology pp. 1-8. ISSN 2168-6165 (2019) [Refereed Article] DOI: 10.1001/jamaophthalmol.2019.5293 [eCite] [Details] Citations: Scopus - 23Web of Science - 22 Co-authors: McComish BJ; Charlesworth JC; Lucas SEM; Hewitt AW; Craig JE | |
| 2019 | Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, et al., 'Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma', JAMA Ophthalmology, (January) pp. E1-E8. ISSN 2168-6165 (2019) [Refereed Article] DOI: 10.1001/jamaophthalmol.2018.5646 [eCite] [Details] Citations: Scopus - 19Web of Science - 19 Co-authors: Hewitt AW; Mackey DA | |
| 2018 | Burdon KP, Awadalla MS, Mitchell P, Wang JJ, White A, et al., 'DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma', Ophthalmic Genetics, 39, (2) pp. 221-227. ISSN 1381-6810 (2018) [Refereed Article] DOI: 10.1080/13816810.2017.1413659 [eCite] [Details] Citations: Scopus - 12Web of Science - 9 Co-authors: Hewitt AW | |
| 2018 | Burdon KP, McComish BJ, Charlesworth JC, 'Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy', Annals of Eye Science, 3 Article 46. ISSN 2520-4122 (2018) [Refereed Article] DOI: 10.21037/aes.2018.08.04 [eCite] [Details] Citations: Scopus - 1 Co-authors: McComish BJ; Charlesworth JC | |
| 2018 | Cooke Bailey JN, Gharahkhani P, Kang JH, Butkiewicz M, Sullivan DA, et al., 'Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: an analysis in two large datasets', Investigative Ophthalmology and Visual Science, 59, (2) pp. 629-636. ISSN 0146-0404 (2018) [Refereed Article] DOI: 10.1167/iovs.17-22708 [eCite] [Details] Citations: Scopus - 11Web of Science - 10 Co-authors: Mackey DA | |
| 2018 | Gharahkhani P, Burdon KP, Cooke Bailey JN, Hewitt AW, Law MH, et al., 'Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma', Scientific Reports, 8, (1) Article 3124. ISSN 2045-2322 (2018) [Refereed Article] DOI: 10.1038/s41598-018-20435-9 [eCite] [Details] Citations: Scopus - 25Web of Science - 24 Co-authors: Hewitt AW; MacKey DA | |
| 2018 | Graham PS, Kaidonis G, Abhary S, Gillies MC, Daniell M, et al., 'Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy', BMC Medical Genetics, 19, (1) Article 71. ISSN 1471-2350 (2018) [Refereed Article] DOI: 10.1186/s12881-018-0587-8 [eCite] [Details] Citations: Scopus - 35Web of Science - 31 Co-authors: Graham PS; Hewitt AW | |
| 2018 | Han X, Souzeau E, Ong J-S, An J, Siggs OM, et al., 'Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studies', JAMA Ophthalmology pp. E1-E8. ISSN 2168-6165 (2018) [Refereed Article] DOI: 10.1001/jamaophthalmol.2018.4477 [eCite] [Details] Citations: Scopus - 24Web of Science - 20 Co-authors: Mackey DA; Hewitt AW | |
| 2018 | Iglesias AI, Mishra A, Vitart V, Bykhovskaya Y, Hohn R, et al., 'Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases', Nature Communications, 9, (1) Article 1864. ISSN 2041-1723 (2018) [Refereed Article] DOI: 10.1038/s41467-018-03646-6 [eCite] [Details] Citations: Scopus - 38Web of Science - 51 Co-authors: Lucas SE; Hewitt AW | |
| 2018 | Javadiyan S, Lucas SE, Wangmo D, Ngy M, Edussuriya K, et al., 'Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka', Molecular Genetics & Genomic Medicine, 6, (4) pp. 555-564. ISSN 2324-9269 (2018) [Refereed Article] DOI: 10.1002/mgg3.406 [eCite] [Details] Citations: Scopus - 11Web of Science - 12 Co-authors: Lucas SE | |
| 2018 | Kaidonis G, Hassall MM, Phillips R, Raymond G, Saha N, et al., 'Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non-Indigenous Australians in South Australia and the Northern Territory', Clinical and Experimental Ophthalmology, 46, (4) pp. 417-423. ISSN 1442-6404 (2018) [Refereed Article] DOI: 10.1111/ceo.13083 [eCite] [Details] Citations: Scopus - 6Web of Science - 5 | |
| 2018 | Lucas SE, Zhou T, Blackburn NB, Mills RA, Ellis J, et al., 'Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent', PLoS One, 13, (6) Article e0199178. ISSN 1932-6203 (2018) [Refereed Article] DOI: 10.1371/journal.pone.0199178 [eCite] [Details] Citations: Scopus - 16Web of Science - 14 Co-authors: Lucas SE; Blackburn NB; Charlesworth JC | |
| 2018 | MacGregor S, Ong J-S, An J, Han X, Zhou T, et al., 'Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma', Nature Genetics, 50, (8) pp. 1067-1071. ISSN 1061-4036 (2018) [Refereed Article] DOI: 10.1038/s41588-018-0176-y [eCite] [Details] Citations: Scopus - 97Web of Science - 85 Co-authors: Mackey DA; Hewitt AW | |
| 2018 | Meng W, Shah KP, Pollack S, Toppila I, Hebert HL, et al., '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', Acta Ophthalmologica, 96, (7) pp. e811-e819. ISSN 1755-375X (2018) [Refereed Article] DOI: 10.1111/aos.13769 [eCite] [Details] Citations: Scopus - 37Web of Science - 34 | |
| 2018 | Pollack S, Igo Jr RP, Jensen RA, Christiansen M, Li X, et al., 'Multiethnic genome-wide association study of diabetic retinopathy using liability threshold modeling of duration of diabetes and glycemic control', Diabetes, 68, (2) pp. 441-456. ISSN 0012-1797 (2018) [Refereed Article] DOI: 10.2337/db18-0567 [eCite] [Details] Citations: Scopus - 33Web of Science - 28 | |
| 2018 | Shiga Y, Akiyama M, Nishiguchi KM, Sato K, Shimozawa N, et al., 'Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma', Human Molecular Genetics, 27, (8) pp. 1486-1496. ISSN 0964-6906 (2018) [Refereed Article] DOI: 10.1093/hmg/ddy053 [eCite] [Details] Citations: Scopus - 82Web of Science - 73 Co-authors: Mackey DA | |
| 2018 | Souzeau E, Rudkin AK, Dubowsky A, Casson RJ, Muecke JS, et al., 'PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia', Molecular Vision, 24 pp. 261-273. ISSN 1090-0535 (2018) [Refereed Article] PMID: 29618921 [eCite] [Details] Citations: Web of Science - 8 | |
| 2017 | Afshari NA, Igo Jr RP, Morris NJ, Stambolian D, Sharma S, et al., 'Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy', Nature Communications, 8 Article 14898. ISSN 2041-1723 (2017) [Refereed Article] DOI: 10.1038/ncomms14898 [eCite] [Details] Citations: Scopus - 75Web of Science - 73 | |
| 2017 | Aung T, Ozaki M, Khor CC, Burdon KP, Hewitt AW, 'Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci', Nature Genetics, 49, (7) pp. 993-1004. ISSN 1061-4036 (2017) [Refereed Article] DOI: 10.1038/ng.3875 [eCite] [Details] Citations: Scopus - 79Web of Science - 76 Co-authors: Hewitt AW | |
| 2017 | Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, et al., 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome)', BMC Medical Genetics, 18, (1) Article 52. ISSN 1471-2350 (2017) [Refereed Article] DOI: 10.1186/s12881-017-0414-7 [eCite] [Details] Citations: Scopus - 14Web of Science - 14 | |
| 2017 | Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, et al., 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia', G3: Genes, Genomes, Genetics, 7, (10) pp. 3257-3268. ISSN 2160-1836 (2017) [Refereed Article] DOI: 10.1534/g3.117.300109 [eCite] [Details] Citations: Scopus - 17Web of Science - 17 Co-authors: Mackey DA; Hewitt AW | |
| 2017 | Kuot A, Hewitt AW, Snibson GR, Souzeau E, Mills R, et al., 'TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases', PLoS One, 12, (8) Article e0183719. ISSN 1932-6203 (2017) [Refereed Article] DOI: 10.1371/journal.pone.0183719 [eCite] [Details] Citations: Scopus - 18Web of Science - 14 Co-authors: Hewitt AW | |
| 2017 | Liu E, Craig JE, Burdon K, 'Diabetic macular oedema: clinical risk factors and emerging genetic influences', Clinical and Experimental Optometry, 100, (6) pp. 569-576. ISSN 0816-4622 (2017) [Refereed Article] DOI: 10.1111/cxo.12552 [eCite] [Details] Citations: Scopus - 13Web of Science - 12 | |
| 2017 | Lucas SE, Zhou T, Blackburn NB, Mills RA, Ellis J, et al., 'Rare, potentially pathogenic variants in ZNF469 are not enriched in keratoconus in a large Australian cohort of European descent', Investigative Ophthalmology and Visual Science (Iovs), 58, (14) pp. 6248-6256. ISSN 0146-0404 (2017) [Refereed Article] DOI: 10.1167/iovs.17-22417 [eCite] [Details] Citations: Scopus - 14Web of Science - 12 Co-authors: Lucas SE; Blackburn NB; Charlesworth JC | |
| 2017 | Nicol D, Eckstein L, Morrison M, Sherkow JS, Otlowski M, et al., 'Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic', Genome Medicine, 9, (1) Article 85. ISSN 1756-994X (2017) [Contribution to Refereed Journal] DOI: 10.1186/s13073-017-0475-4 [eCite] [Details] Citations: Scopus - 11Web of Science - 9 Co-authors: Nicol D; Eckstein L; Otlowski M; Chalmers D; Charlesworth J; Dickinson JL; Hewitt AW; Mackey DA; Nielsen J; McWhirter RE | |
| 2017 | Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, et al., 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract', European Journal of Human Genetics, 25, (6) pp. 711-718. ISSN 1018-4813 (2017) [Refereed Article] DOI: 10.1038/ejhg.2017.33 [eCite] [Details] Citations: Scopus - 10Web of Science - 10 | |
| 2017 | Sobrin L, Chong YH, Fan Q, Gan A, Stanwyck LK, et al., 'Genetically determined plasma lipid levels and risk of diabetic retinopathy: A mendelian randomization study', Diabetes, 66, (12) pp. 3130-3141. ISSN 0012-1797 (2017) [Refereed Article] DOI: 10.2337/db17-0398 [eCite] [Details] Citations: Scopus - 11Web of Science - 10 | |
| 2017 | Souzeau E, Siggs OM, Zhou T, Galanopoulos A, Hodson T, et al., 'Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants', European Journal of Human Genetics, 25, (7) pp. 839-847. ISSN 1018-4813 (2017) [Refereed Article] DOI: 10.1038/ejhg.2017.59 [eCite] [Details] Citations: Scopus - 31Web of Science - 30 Co-authors: Mackey DA; Hewitt AW | |
| 2017 | Souzeau E, Tram KH, Witney M, Ruddle JB, Graham SL, et al., 'Myocilin predictive genetic testing for primary open-angle glaucoma leads to early identification of at-risk individuals', Ophthalmology, 124, (3) pp. 303-309. ISSN 0161-6420 (2017) [Refereed Article] DOI: 10.1016/j.ophtha.2016.11.011 [eCite] [Details] Citations: Scopus - 22Web of Science - 20 Co-authors: Mackey DA; Hewitt AW | |
| 2017 | Springelkamp H, Iglesias AI, Mishra A, Hohn R, Wojciechowski R, et al., 'New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics', Human Molecular Genetics, 26, (2) pp. 438-453. ISSN 0964-6906 (2017) [Refereed Article] DOI: 10.1093/hmg/ddw399 [eCite] [Details] Citations: Scopus - 111Web of Science - 98 Co-authors: Hewitt AW; Mackey DA | |
| 2017 | Yazar S, Franchina M, Craig JE, Burdon KP, Mackey DA, 'Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome', Ophthalmic Genetics, 38, (2) pp. 171-174. ISSN 1381-6810 (2017) [Refereed Article] DOI: 10.3109/13816810.2016.1164195 [eCite] [Details] Citations: Scopus - 3Web of Science - 3 | |
| 2017 | Zhou T, Souzeau E, Sharma S, Landers J, Mills R, et al., 'Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma', PLoS ONE, 12, (3) Article e0172427. ISSN 1932-6203 (2017) [Refereed Article] DOI: 10.1371/journal.pone.0172427 [eCite] [Details] Citations: Scopus - 8Web of Science - 7 Co-authors: Hewitt AW; Mackey DA | |
| 2017 | Zhou T, Souzeau E, Siggs OM, Landers J, Mills R, et al., 'Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma', Investigative Ophthalmology and Visual Science, 58, (3) pp. 1537-1544. ISSN 0146-0404 (2017) [Refereed Article] DOI: 10.1167/iovs.16-21049 [eCite] [Details] Citations: Scopus - 13Web of Science - 10 Co-authors: Hewitt AW; Mackey DA | |
| 2016 | Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, et al., 'Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma', Nature Genetics, 48, (2) pp. 189-194. ISSN 1061-4036 (2016) [Refereed Article] DOI: 10.1038/ng.3482 [eCite] [Details] Citations: Scopus - 162Web of Science - 146 Co-authors: Hewitt AW; Mackey DA | |
| 2016 | Burdon KP, Ng SK, MacGregor S, Craig JE, 'Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population', Investigative Ophthalmology and Visual Science, 57 pp. 6418. ISSN 1552-5783 (2016) [Letter or Note in Journal] | |
| 2016 | Cuellar-Partida G, Craig JE, Burdon KP, Wang JJ, Vote BJ, et al., 'Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration', Scientific Reports, 6 Article 26885. ISSN 2045-2322 (2016) [Refereed Article] DOI: 10.1038/srep26885 [eCite] [Details] Citations: Scopus - 15Web of Science - 16 Co-authors: Mackey DA; Hewitt AW | |
| 2016 | Dave A, Martin S, Kumar R, Craig JE, Burdon KP, et al., 'EPHA2 mutations contribute to congenital cataract through diverse mechanisms', Molecular Vision, 22 pp. 18-30. ISSN 1090-0535 (2016) [Refereed Article] Citations: Web of Science - 17 | |
| 2016 | Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, et al., 'Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract', BMC Research Notes, 9, (1) Article 83. ISSN 1756-0500 (2016) [Refereed Article] DOI: 10.1186/s13104-016-1890-0 [eCite] [Details] Citations: Scopus - 13 | |
| 2016 | Kaidonis G, Craig JE, Gillies MC, Abhary S, Essex RW, et al., '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', Diabetes and Vascular Disease Research, 13, (2) pp. 164-167. ISSN 1479-1641 (2016) [Refereed Article] DOI: 10.1177/1479164115616902 [eCite] [Details] Citations: Scopus - 5Web of Science - 6 | |
| 2016 | Kaidonis G, Gillies MC, Abhary S, Liu E, Essex RW, et al., 'A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients', Acta Diabetologica, 53, (4) pp. 643-650. ISSN 0940-5429 (2016) [Refereed Article] DOI: 10.1007/s00592-016-0850-4 [eCite] [Details] Citations: Scopus - 53Web of Science - 52 Co-authors: Hewitt AW | |
| 2016 | Khong JJ, Burdon KP, Lu Y, Laurie K, Leonardos L, et al., 'Pooled genome wide association detects association upstream of FCRL3 with Graves' disease', BMC Genomics, 17, (1) Article 939. ISSN 1471-2164 (2016) [Refereed Article] DOI: 10.1186/s12864-016-3276-z [eCite] [Details] Citations: Scopus - 8Web of Science - 7 | |
| 2016 | Khong JJ, Burdon KP, Lu Y, Leonardos L, Laurie KJ, et al., 'Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy', Investigative Ophthalmology and Visual Science (IOVS), 57, (7) pp. 3129-3137. ISSN 0146-0404 (2016) [Refereed Article] DOI: 10.1167/iovs.15-18797 [eCite] [Details] Citations: Scopus - 8Web of Science - 6 | |
| 2016 | Khor CC, Do T, Jia H, Nakano M, George R, et al., 'Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma', Nature Genetics, 48, (5) pp. 556-562. ISSN 1061-4036 (2016) [Refereed Article] DOI: 10.1038/ng.3540 [eCite] [Details] Citations: Scopus - 105Web of Science - 98 Co-authors: Hewitt AW | |
| 2016 | Ng SK, Burdon KP, Fitzgerald JT, Zhou T, Fogarty R, et al., 'Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma', Investigative Ophthalmology and Visual Science, 57, (7) pp. 3416-3421. ISSN 1552-5783 (2016) [Refereed Article] DOI: 10.1167/iovs.16-19401 [eCite] [Details] Citations: Scopus - 21Web of Science - 21 Co-authors: Hewitt AW | |
| 2016 | Riaz M, Lores-Motta L, Richardson AJ, Lu Y, Montgomery G, et al., 'GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration', Scientific Reports, 6 Article 37924. ISSN 2045-2322 (2016) [Refereed Article] DOI: 10.1038/srep37924 [eCite] [Details] Citations: Scopus - 19Web of Science - 16 | |
| 2016 | Sharma S, Martin S, Sykes MJ, Dave A, Hewitt AW, et al., 'Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome', Experimental Eye Research, 146 pp. 212-223. ISSN 0014-4835 (2016) [Refereed Article] DOI: 10.1016/j.exer.2016.03.013 [eCite] [Details] Citations: Scopus - 20Web of Science - 18 Co-authors: Hewitt AW | |
| 2016 | Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, et al., 'Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity', Journal of Clinical Investigation, 126, (7) pp. 2575-2587. ISSN 0021-9738 (2016) [Refereed Article] DOI: 10.1172/JCI85830 [eCite] [Details] Citations: Scopus - 116Web of Science - 116 Co-authors: Hewitt AW; Mackey DA | |
| 2016 | Souzeau E, Burdon KP, Mackey DA, Hewitt AW, Savarirayan R, et al., 'Ethical considerations for the return of incidental findings in ophthalmic genomic research', Translational Vision Science and Technology, 5, (1) pp. 1-11. ISSN 2164-2591 (2016) [Refereed Article] DOI: 10.1167/tvst.5.1.3 [eCite] [Details] Citations: Scopus - 9Web of Science - 10 Co-authors: Mackey DA; Hewitt AW; Otlowski M | |
| 2016 | Souzeau E, Burdon KP, Ridge B, Dubowsky A, Ruddle JB, et al., 'A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma', BMC Medical Genetics, 17, (1) Article 30. ISSN 1471-2350 (2016) [Contribution to Refereed Journal] DOI: 10.1186/s12881-016-0291-5 [eCite] [Details] Citations: Scopus - 9Web of Science - 9 | |
| 2016 | Zhou T, Souzeau E, Sharma S, Siggs OM, Goldberg I, et al., 'Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma', Molecular Genetics & Genomic Medicine, 4, (6) pp. 624-633. ISSN 2324-9269 (2016) [Refereed Article] DOI: 10.1002/mgg3.248 [eCite] [Details] Citations: Scopus - 9Web of Science - 9 Co-authors: Hewitt AW | |
| 2015 | Aung T, Ozaki M, Mizoguchi T, Allingham RR, Haripriya A, et al., 'A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome', Nature Genetics, 47, (4) pp. 387-392. ISSN 1061-4036 (2015) [Refereed Article] DOI: 10.1038/ng.3226 [eCite] [Details] Citations: Scopus - 79Web of Science - 69 Co-authors: Hewitt AW | |
| 2015 | Awadalla MS, Burdon KP, Craig JE, 'Reply: Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?', JAMA Ophthalmology, 133, (3) pp. 359-360. ISSN 2168-6165 (2015) [Letter or Note in Journal] | |
| 2015 | Awadalla MS, Fingert JH, Roos BE, Chen S, Holmes R, et al., 'Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma', American Journal of Ophthalmology, 159, (1) pp. 124-130. ISSN 0002-9394 (2015) [Refereed Article] DOI: 10.1016/j.ajo.2014.09.044 [eCite] [Details] Citations: Scopus - 60Web of Science - 54 Co-authors: Hewitt AW | |
| 2015 | Burdon KP, 'Role of direct-to-consumer genetic testing for complex disease in diagnostics and research', Clinical and Experimental Ophthalmology, 43 pp. 503-504. ISSN 1442-6404 (2015) [Non Refereed Article] DOI: 10.1111/ceo.12565 [eCite] [Details] Citations: Scopus - 2Web of Science - 2 | |
| 2015 | Burdon KP, Fogarty RD, Shen W, Abhary S, Kaidonis G, et al., 'Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene', Diabetologia, 58, (10) pp. 2288-2297. ISSN 0012-186X (2015) [Refereed Article] DOI: 10.1007/s00125-015-3697-2 [eCite] [Details] Citations: Scopus - 57Web of Science - 51 Co-authors: Hewitt AW | |
| 2015 | Burdon KP, Mitchell P, Lee A, Healey PR, White AJR, et al., 'Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study', American Journal of Ophthalmology, 159, (1) pp. 31-36. ISSN 0002-9394 (2015) [Refereed Article] DOI: 10.1016/j.ajo.2014.09.020 [eCite] [Details] Citations: Scopus - 24Web of Science - 25 | |
| 2015 | Cuellar-Partida G, Springelkamp H, Lucas SE, Yazar S, Hewitt AW, et al., 'WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness', Human Molecular Genetics, 24, (17) pp. 5060-5068. ISSN 0964-6906 (2015) [Refereed Article] DOI: 10.1093/hmg/ddv211 [eCite] [Details] Citations: Scopus - 42Web of Science - 41 Co-authors: Lucas SE; Hewitt AW | |
| 2015 | Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, et al., 'A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants', Nature Genetics, 48, (2) pp. 134-143. ISSN 1546-1718 (2015) [Refereed Article] DOI: 10.1038/ng.3448 [eCite] [Details] Citations: Scopus - 828Web of Science - 790 Co-authors: Vote BJ; Mackey DA; Hewitt AW | |
| 2015 | Gharahkhani P, Burdon KP, Hewitt AW, Law MH, Souzeau E, et al., 'Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma', Investigative Ophthalmology and Visual Science, 56, (9) pp. 5087-5093. ISSN 0146-0404 (2015) [Refereed Article] DOI: 10.1167/iovs.15-17305 [eCite] [Details] Citations: Scopus - 14Web of Science - 14 Co-authors: Hewitt AW; Mackey DA | |
| 2015 | Kaidonis G, Burdon KP, Gillies MC, Abhary S, Essex RW, et al., 'Common sequence variation in the VEGFC gene is associated with diabetic retinopathy and diabetic macular edema', Ophthalmology, 122, (9) pp. 1828-1836. ISSN 0161-6420 (2015) [Refereed Article] DOI: 10.1016/j.ophtha.2015.05.004 [eCite] [Details] Citations: Scopus - 20Web of Science - 18 Co-authors: Hewitt AW | |
| 2015 | Khong JJ, Wang LY, Smyth GK, McNab AA, Hardy TG, et al., 'Differential gene expression profiling of orbital adipose tissue in thyroid orbitopathy', Investigative Ophthalmology and Visual Science, 56, (11) pp. 6438-6447. ISSN 0146-0404 (2015) [Refereed Article] DOI: 10.1167/iovs.15-17185 [eCite] [Details] Citations: Scopus - 16Web of Science - 14 | |
| 2015 | Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, et al., 'Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma', Nature Genetics, 47, (9) pp. 987-995. ISSN 1061-4036 (2015) [Refereed Article] DOI: 10.1038/ng.3373 [eCite] [Details] Citations: Scopus - 170Web of Science - 161 | |
| 2015 | Li Z, Allingham RR, Nakano M, Jia L, Chen Y, et al., 'A common variant near TGFBR3 is associated with primary open angle glaucoma', Human Molecular Genetics, 24, (13) pp. 3880-3892. ISSN 1460-2083 (2015) [Refereed Article] DOI: 10.1093/hmg/ddv128 [eCite] [Details] Citations: Scopus - 80Web of Science - 79 Co-authors: Hewitt AW; Mackey DA | |
| 2015 | Souzeau E, Glading J, Ridge B, Wechsler D, Chehade M, et al., 'Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma', Clinical Genetics, 88, (6) pp. 584-588. ISSN 1399-0004 (2015) [Refereed Article] DOI: 10.1111/cge.12558 [eCite] [Details] Citations: Scopus - 11Web of Science - 8 | |
| 2015 | Souzeau E, Hayes M, Ruddle JB, Elder JE, Staffieri SE, et al., 'CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma', Molecular Vision, 21 pp. 160-164. ISSN 1090-0535 (2015) [Refereed Article] Citations: Web of Science - 4 Co-authors: Mackey DA | |
| 2015 | Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, et al., 'Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss', JAMA Ophthalmology, 133, (7) pp. 826-833. ISSN 2168-6165 (2015) [Refereed Article] DOI: 10.1001/jamaophthalmol.2015.0980 [eCite] [Details] Citations: Scopus - 14Web of Science - 15 Co-authors: Mackey DA; Hewitt AW | |
| 2015 | Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, et al., 'ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure', Human Molecular Genetics, 24, (9) pp. 2689-2699. ISSN 1460-2083 (2015) [Refereed Article] DOI: 10.1093/hmg/ddv027 [eCite] [Details] Citations: Scopus - 63Web of Science - 61 Co-authors: Hewitt AW; Mackey DA | |
| 2015 | Springelkamp H, Mishra A, Hysi PG, Gharahkhani P, Hohn R, et al., 'Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology', Genetic Epidemiology, 39, (3) pp. 207-216. ISSN 0741-0395 (2015) [Refereed Article] DOI: 10.1002/gepi.21886 [eCite] [Details] Citations: Scopus - 58Web of Science - 60 Co-authors: Mackey DA; Hewitt AW | |
| 2015 | Van Bergen NJ, Crowston JG, Craig JE, Burdon KP, Kearns LS, et al., 'Measurement of systemic mitochondrial function in advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy', PLoS One, 10, (10) Article e0140919. ISSN 1932-6203 (2015) [Refereed Article] DOI: 10.1371/journal.pone.0140919 [eCite] [Details] Citations: Scopus - 57Web of Science - 56 Co-authors: Hewitt A | |
| 2014 | Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt A, et al., 'Mutation in TMEM98 in a large white kindred with Autosomal Dominant Nanophthalmos linked to 17p12-q12', JAMA Ophthalmology, 132, (8) pp. 970-977. ISSN 2168-6173 (2014) [Refereed Article] DOI: 10.1001/jamaophthalmol.2014.946 [eCite] [Details] Citations: Scopus - 43Web of Science - 41 Co-authors: Hewitt A | |
| 2014 | Crawford A, Souzeau E, Agar A, Ridge B, Dubowsky A, et al., 'Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma', Gene, 545, (2) pp. 271-275. ISSN 0378-1119 (2014) [Refereed Article] DOI: 10.1016/j.gene.2014.04.033 [eCite] [Details] Citations: Scopus - 5Web of Science - 4 | |
| 2014 | Gharahkhani P, Burdon KP, Fogarty R, Sharma S, Hewitt AW, et al., 'Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma', Nature Genetics, 46, (10) pp. 1120-1125. ISSN 1546-1718 (2014) [Refereed Article] DOI: 10.1038/ng.3079 [eCite] [Details] Citations: Scopus - 137Web of Science - 128 Co-authors: Hewitt AW; Mackey DA | |
| 2014 | Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JN, et al., 'Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma', Nature Genetics, 46 pp. 1126-1130. ISSN 1546-1718 (2014) [Refereed Article] DOI: 10.1038/ng.3087 [eCite] [Details] Citations: Scopus - 174Web of Science - 166 Co-authors: Hewitt AW; Mackey DA | |
| 2014 | Kaidonis G, Abhary S, Daniell M, Gillies M, Fogarty R, et al., 'Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics', Clinical and Experimental Ophthalmology, 42, (5) pp. 486-493. ISSN 1442-6404 (2014) [Refereed Article] DOI: 10.1111/ceo.12239 [eCite] [Details] Citations: Scopus - 15Web of Science - 9 Co-authors: Hewitt AW | |
| 2014 | Kaidonis G, Mills RA, Landers J, Franzco SRL, Burdon KP, et al., 'Review of the prevalence of diabetic retinopathy in Indigenous Australians', Clinical and Experimental Ophthalmology, 42 pp. 875-882. ISSN 1442-6404 (2014) [Refereed Article] DOI: 10.1111/ceo.12338 [eCite] [Details] Citations: Scopus - 18Web of Science - 17 | |
| 2014 | Khong JJ, Goldstein RF, Sanders KM, Schneider H, Pope J, et al., 'Serum selenium status in Graves' disease with and without orbitopathy: a case-control study', Clinical Endocrinology, 80 pp. 905-910. ISSN 0300-0664 (2014) [Refereed Article] DOI: 10.1111/cen.12392 [eCite] [Details] Citations: Scopus - 52Web of Science - 44 | |
| 2014 | Kuot A, Mills R, Craig JE, Sharma S, Burdon KP, 'Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy', Clinical and Experimental Ophthalmology, 42, (2) pp. 198-200. ISSN 1442-6404 (2014) [Letter or Note in Journal] DOI: 10.1111/ceo.12122 [eCite] [Details] Citations: Scopus - 5Web of Science - 5 | |
| 2014 | Landers J, Hewitt AW, Straga T, Burdon KP, Craig JE, 'Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene', Clinical and Experimental Ophthalmology, 43, (2) pp. 189-190. ISSN 1442-6404 (2014) [Letter or Note in Journal] DOI: 10.1111/ceo.12388 [eCite] [Details] Citations: Scopus - 1Web of Science - 1 Co-authors: Hewitt AW | |
| 2014 | Liu Y, Freedman BI, Burdon KP, Langefeld CD, Howard T, et al., 'Association of Arachidonate 12-Lipoxygenase Genotype Variation and Glycemic Control With Albuminuria in Type 2 Diabetes', American Journal of Kidney Diseases, 52, (2) pp. 242-250. ISSN 0272-6386 (2014) [Refereed Article] DOI: 10.1053/j.ajkd.2007.12.033 [eCite] [Details] Citations: Scopus - 16Web of Science - 16 | |
| 2014 | Souzeau E, Glading J, Keane M, Ridge B, Zhou T, et al., 'Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma', Genetics in Medicine, 16, (7) pp. 558-563. ISSN 1098-3600 (2014) [Refereed Article] DOI: 10.1038/gim.2013.196 [eCite] [Details] Citations: Scopus - 13Web of Science - 9 | |
| 2014 | Springelkamp H, Hohn R, Mishra A, Hysi PG, Khor C-C, et al., 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, 5 Article 4883. ISSN 2041-1723 (2014) [Refereed Article] DOI: 10.1038/ncomms5883 [eCite] [Details] Citations: Scopus - 78Web of Science - 74 Co-authors: Mackey DA; Hewitt A | |
| 2013 | Awadalla MS, Thapa SS, Hewitt AW, Burdon KP, Craig JE, 'Association of genetic variants with primary angle closure glaucoma in two different populations', PLoS One, 8, (6) Article e67903. ISSN 1932-6203 (2013) [Refereed Article] DOI: 10.1371/journal.pone.0067903 [eCite] [Details] Citations: Scopus - 36Web of Science - 32 Co-authors: Hewitt AW | |
| 2013 | Awadalla MS, Thapa SS, Hewitt AW, Craig JE, Burdon KP, 'Association of eNOS polymorphisms with primary angle-closure glaucoma', Investigative Ophthalmology and Visual Science (Iovs), 54, (3) pp. 2108-2114. ISSN 0146-0404 (2013) [Refereed Article] DOI: 10.1167/iovs.12-11391 [eCite] [Details] Citations: Scopus - 25Web of Science - 26 Co-authors: Hewitt AW | |
| 2013 | Bae HA, Mills RAD, Lindsay RG, Phillips T, Coster DJ, et al., 'Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus', Investigative Ophthalmology and Visual Science (Iovs), 54, (7) pp. 5132-5135. ISSN 0146-0404 (2013) [Refereed Article] DOI: 10.1167/iovs.13-12377 [eCite] [Details] Citations: Scopus - 32Web of Science - 29 | |
| 2013 | Burdon KP, Vincent AL, 'Insights into keratoconus from a genetic perspective', Clinical and Experimental Optometry, 96, (2) pp. 146-154. ISSN 0816-4622 (2013) [Refereed Article] DOI: 10.1111/cxo.12024 [eCite] [Details] Citations: Scopus - 74Web of Science - 69 | |
| 2013 | Cheng C-Y, Schache M, Ikram MK, Young TL, Guggenheim JA, et al., '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, 93, (2) pp. 264-277. ISSN 0002-9297 (2013) [Refereed Article] DOI: 10.1016/j.ajhg.2013.06.016 [eCite] [Details] Citations: Scopus - 116Web of Science - 108 Co-authors: Hewitt AW; Mackey DA | |
| 2013 | Chidlow G, Wood JPM, Sharma S, Dimasi DP, Burdon KP, et al., 'Ocular expression and distribution of products of the POAG-Associated chromosome 9p21 Gene Region', PL o S One, 8, (9) Article e75067. ISSN 1932-6203 (2013) [Refereed Article] DOI: 10.1371/journal.pone.0075067 [eCite] [Details] Citations: Scopus - 11Web of Science - 11 | |
| 2013 | Dave A, Laurie K, Staffieri SE, Taranath D, Mackey DA, et al., 'Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia', PLoS One, 8, (8) Article e72518. ISSN 1932-6203 (2013) [Refereed Article] DOI: 10.1371/journal.pone.0072518 [eCite] [Details] Citations: Scopus - 33Web of Science - 32 Co-authors: Mackey DA | |
| 2013 | Laurie KJ, Dave A, Straga T, Souzeau E, Chataway T, et al., 'Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family', Human Mutation, 34, (3) pp. 435-438. ISSN 1059-7794 (2013) [Refereed Article] DOI: 10.1002/humu.22260 [eCite] [Details] Citations: Scopus - 26Web of Science - 24 | |
| 2013 | Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, et al., 'Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus', Nature Genetics, 45, (2) pp. 155-163. ISSN 1061-4036 (2013) [Refereed Article] DOI: 10.1038/ng.2506 [eCite] [Details] Citations: Scopus - 210Web of Science - 221 Co-authors: Hewitt AW; Mackey DA | |
| 2013 | Souzeau E, Burdon KP, Dubowsky A, Grist S, Usher B, et al., 'Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry', Ophthalmology, 120, (6) pp. 1135-1143. ISSN 0161-6420 (2013) [Refereed Article] DOI: 10.1016/j.ophtha.2012.11.029 [eCite] [Details] Citations: Scopus - 36Web of Science - 37 Co-authors: Hewitt AW; Mackey DA | |
| 2013 | Tug E, Dilek NF, Javadiyan S, Burdon KP, Percin FE, 'A Turkish family with Nance-Horan syndrome due to a novel mutation', Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function, 525, (1) pp. 141-145. ISSN 0378-1119 (2013) [Refereed Article] DOI: 10.1016/j.gene.2013.03.094 [eCite] [Details] Citations: Scopus - 18Web of Science - 15 | |
| 2013 | Verhoeven VJM, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, et al., 'Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia', Nature Genetics, 45, (3) pp. 314-318. ISSN 1061-4036 (2013) [Refereed Article] DOI: 10.1038/ng.2554 [eCite] [Details] Citations: Scopus - 331Web of Science - 315 Co-authors: Hewitt AW; Mackey DA | |
| 2013 | Willoughby CE, Lechner J, Bae HA, Guduric-Fuchs J, Rice A, et al., 'Mutational analysis of MIR184 in sporadic keratoconus and myopia', Investigative Ophthalmology and Visual Science (Iovs), 54, (8) pp. 5266-5272. ISSN 0146-0404 (2013) [Refereed Article] DOI: 10.1167/iovs.13-12035 [eCite] [Details] Citations: Scopus - 56Web of Science - 52 | |
| 2012 | Awadalla MS, Burdon KP, Thapa SS, Hewitt AW, Craig JE, 'A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma', Molecular Vision, 18 pp. 2247-2254. ISSN 1090-0535 (2012) [Refereed Article] PMID: 22933837 [eCite] [Details] Citations: Scopus - 13Web of Science - 11 Co-authors: Hewitt AW | |
| 2012 | Burdon KP, 'Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review', Clinical and Experimental Ophthalmology, 40, (4) pp. 358-363. ISSN 1442-6404 (2012) [Refereed Article] DOI: 10.1111/j.1442-9071.2011.02744.x [eCite] [Details] Citations: Scopus - 19Web of Science - 17 | |
| 2012 | Burdon KP, Crawford A, Casson RJ, Hewitt AW, Landers J, et al., 'Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma', Ophthalmology, 119, (8) pp. 1539-1545. ISSN 0161-6420 (2012) [Refereed Article] DOI: 10.1016/j.ophtha.2012.02.004 [eCite] [Details] Citations: Scopus - 66Web of Science - 64 Co-authors: Hewitt AW; Mackey DA | |
| 2012 | Dimasi DP, Burdon KP, Hewitt AW, Fitzgerald J, Wang JJ, et al., 'Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma', American Journal of Ophthalmology, 154, (5) pp. 833-842.e2. ISSN 1879-1891 (2012) [Refereed Article] DOI: 10.1016/j.ajo.2012.04.023 [eCite] [Details] Citations: Scopus - 24Web of Science - 24 Co-authors: Hewitt AW; Mackey DA | |
| 2012 | Fogarty RD, Abhary S, Javadiyan S, Kasmeridis N, Petrovsky N, et al., 'Relationship between DDAH gene variants and serum ADMA level in individuals with type 1 diabetes', Journal of Diabetes and Its Complications, 26, (3) pp. 195-198. ISSN 1056-8727 (2012) [Refereed Article] DOI: 10.1016/j.jdiacomp.2012.03.022 [eCite] [Details] Citations: Scopus - 10Web of Science - 11 | |
| 2012 | Javadiyan S, Burdon KP, Whiting MJ, Abhary S, Straga T, et al., 'Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma', Investigative Ophthalmology & Visual Science, 53, (4) pp. 1923-1927. ISSN 1552-5783 (2012) [Refereed Article] DOI: 10.1167/iovs.11-8420 [eCite] [Details] Citations: Scopus - 36Web of Science - 34 Co-authors: Hewitt AW | |
| 2012 | Kuot A, Hewitt AW, Griggs K, Klebe S, Mills R, et al., '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, 20, (6) pp. 632-638. ISSN 1018-4813 (2012) [Refereed Article] DOI: 10.1038/ejhg.2011.248 [eCite] [Details] Citations: Scopus - 53Web of Science - 50 Co-authors: Hewitt AW | |
| 2012 | Sharma S, Burdon KP, Chidlow G, Klebe S, Crawford A, et al., '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, 53, (8) pp. 4917-4925. ISSN 0146-0404 (2012) [Refereed Article] DOI: 10.1167/iovs.11-9047 [eCite] [Details] Citations: Scopus - 31Web of Science - 31 Co-authors: Hewitt AW; Mackey DA | |
| 2012 | Souzeau E, Goldberg I, Healey PR, Mills RAD, Landers J, et al., 'Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment', Clinical and Experimental Ophthalmology, 40, (6) pp. 569-575. ISSN 1442-6404 (2012) [Refereed Article] DOI: 10.1111/j.1442-9071.2011.02742.x [eCite] [Details] Citations: Scopus - 55Web of Science - 49 Co-authors: Hewitt AW; Mackey DA | |
| 2012 | Young TK, Souzeau E, Liu L, Kearns LS, Burdon KP, et al., 'Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma', Molecular Vision, 18 pp. 3064-3069. ISSN 1090-0535 (2012) [Refereed Article] PMID: 23304066 [eCite] [Details] Citations: Scopus - 8Web of Science - 8 | |
| 2011 | Awadalla MS, Burdon KP, Kuot A, Hewitt AW, Craig JE, 'Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population', Molecular Vision, 17 pp. 1420-1424. ISSN 1090-0535 (2011) [Refereed Article] PMID: 21655354 [eCite] [Details] Citations: Scopus - 44Web of Science - 36 Co-authors: Hewitt AW | |
| 2011 | Awadalla MS, Thapa SS, Burdon KP, Hewitt AW, Craig JE, 'The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population', Molecular Vision, 17 pp. 2248-2254. ISSN 1090-0535 (2011) [Refereed Article] PMID: 21897747 [eCite] [Details] Citations: Scopus - 27Web of Science - 25 Co-authors: Hewitt AW | |
| 2011 | Burdon KP, Macgregor S, Bykhovskaya Y, Javadiyan S, Li X, et al., 'Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus', Investigative Ophthalmology and Visual Science, 52, (11) pp. 8514-8519. ISSN 0146-0404 (2011) [Refereed Article] DOI: 10.1167/iovs.11-8261 [eCite] [Details] Citations: Scopus - 94Web of Science - 88 Co-authors: Hewitt AW | |
| 2011 | Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, et al., 'Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1', Nature Genetics, 43, (6) pp. 574-578. ISSN 1061-4036 (2011) [Refereed Article] DOI: 10.1038/ng.824 [eCite] [Details] Citations: Scopus - 323Web of Science - 317 Co-authors: Hewitt AW; Mackey DA | |
| 2011 | Dimasi DP, Hewitt AW, Kagame K, Ruvama S, Tindyebwa L, et al., 'Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype', PLoS One, 6, (8) Article e22103. ISSN 1932-6203 (2011) [Refereed Article] DOI: 10.1371/journal.pone.0022103 [eCite] [Details] Citations: Scopus - 16Web of Science - 12 Co-authors: Hewitt AW | |
| 2011 | Khan K, Rudkin A, Parry DA, Burdon KP, McKibbin M, et al., 'Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma', American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 89, (3) pp. 464-473. ISSN 0002-9297 (2011) [Refereed Article] DOI: 10.1016/j.ajhg.2011.08.005 [eCite] [Details] Citations: Scopus - 56Web of Science - 55 | |
| 2011 | Pratap DS, Lim LL, Wang JJ, Mackey DA, Kearns LS, et al., 'The role of toll-like receptor variants in acute anterior uveitis', Molecular Vision, 17 pp. 2970-2977. ISSN 1090-0535 (2011) [Refereed Article] PMID: 22128242 [eCite] [Details] Citations: Scopus - 8Web of Science - 9 Co-authors: Mackey DA; Hewitt AW | |
| 2011 | Ronci M, Sharma S, Chataway T, Burdon KP, Martin S, et al., 'MALDI-MS-imaging of whole human lens capsule', Journal of Proteome Research, 10, (8) pp. 3522-3529. ISSN 1535-3893 (2011) [Refereed Article] DOI: 10.1021/pr200148k [eCite] [Details] Citations: Scopus - 29Web of Science - 28 | |
| 2010 | Abhary S, Burdon KP, Casson RJ, Goggin M, Petrovsky NP, et al., 'Association between erythropoietin gene polymorphisms and diabetic retinopathy', Archives of Ophthalmology, 128, (1) pp. 102-106. ISSN 0003-9950 (2010) [Refereed Article] DOI: 10.1001/archophthalmol.2009.355 [eCite] [Details] Citations: Scopus - 46Web of Science - 42 | |
| 2010 | Abhary S, Burdon KP, Kuot A, Javadiyan S, Whiting MJ, et al., 'Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes', PL o S One, 5, (3) Article e9462. ISSN 1932-6203 (2010) [Refereed Article] DOI: 10.1371/journal.pone.0009462 [eCite] [Details] Citations: Scopus - 54Web of Science - 50 | |
| 2010 | Abhary S, Burdon KP, Laurie KJ, Thorpe S, Landers J, et al., 'Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility', Diabetes Care, 33, (8) pp. 1834-1836. ISSN 0149-5992 (2010) [Refereed Article] DOI: 10.2337/dc09-1893 [eCite] [Details] Citations: Scopus - 37Web of Science - 28 | |
| 2010 | Burdon KP, Hewitt AW, Mackey DA, Mitchell P, Craig JE, 'Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma', Molecular Vision, 16 pp. 2286-2293. ISSN 1090-0535 (2010) [Refereed Article] PMID: 21139974 [eCite] [Details] Citations: Scopus - 11Web of Science - 11 Co-authors: Hewitt AW; Mackey DA | |
| 2010 | Burdon KP, Rudock ME, Lehtinen AB, Langefeld CD, Bowden DW, et al., 'Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart study', Mediators of Inflammation Article 170153. ISSN 0962-9351 (2010) [Refereed Article] DOI: 10.1155/2010/170153 [eCite] [Details] Citations: Scopus - 34Web of Science - 31 | |
| 2010 | Dimasi DP, Burdon KP, Hewitt AW, Savarirayan R, Healey PR, et al., 'Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness', Molecular Vision, 16, (63-65) pp. 562-569. ISSN 1090-0535 (2010) [Refereed Article] PMID: 20360993 [eCite] [Details] Citations: Scopus - 12Web of Science - 13 Co-authors: Hewitt AW; Mackey DA | |
| 2010 | Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, et al., 'Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes', Human Genetics, 127, (1) pp. 33-44. ISSN 0340-6717 (2010) [Refereed Article] DOI: 10.1007/s00439-009-0729-3 [eCite] [Details] Citations: Scopus - 26Web of Science - 26 Co-authors: Hewitt AW; Mackey DA | |
| 2010 | Hattersley K, Laurie KJ, Liebelt JE, Gecz J, Durkin SR, et al., 'A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32', BMC Medical Genetics, 11, (1) Article 165. ISSN 1471-2350 (2010) [Refereed Article] DOI: 10.1186/1471-2350-11-165 [eCite] [Details] Citations: Scopus - 4Web of Science - 4 | |
| 2010 | Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, et al., 'Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness', PL o S Genetics (Print), 6, (5) Article e1000947. ISSN 1553-7390 (2010) [Refereed Article] DOI: 10.1371/journal.pgen.1000947 [eCite] [Details] Citations: Scopus - 108Web of Science - 111 Co-authors: Hewitt AW; Mackey DA | |
| 2010 | Thorleifsson G, Walters GB, Hewitt AW, Masson G, Helgason A, et al., 'Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma', Nature Genetics, 42, (10) pp. 906-910. ISSN 1061-4036 (2010) [Refereed Article] DOI: 10.1038/ng.661 [eCite] [Details] Citations: Scopus - 312Web of Science - 295 Co-authors: Hewitt AW; Mackey DA | |
| 2009 | Abhary S, Burdon KP, Gupta A, Lake S, Selva D, et al., 'Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy', Investigative Ophthalmology and Visual Science (Iovs), 50, (12) pp. 5552-5558. ISSN 0146-0404 (2009) [Refereed Article] DOI: 10.1167/iovs.09-3694 [eCite] [Details] Citations: Scopus - 59Web of Science - 55 | |
| 2009 | Abhary S, Burdon KP, Gupta A, Petrovsky N, Craig JE, 'Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms', Molecular Vision, 15 pp. 1179-1184. ISSN 1090-0535 (2009) [Refereed Article] PMID: 19536309 [eCite] [Details] Citations: Scopus - 4Web of Science - 4 | |
| 2009 | Abhary S, Hewitt AW, Burdon KP, Craig JE, 'A systematic meta-analysis of genetic association studies for diabetic retinopathy', Diabetes, 58, (9) pp. 2137-2147. ISSN 0012-1797 (2009) [Refereed Article] DOI: 10.2337/db09-0059 [eCite] [Details] Citations: Scopus - 160Web of Science - 146 Co-authors: Hewitt AW | |
| 2009 | Abhary S, Kasmeridis N, Burdon KP, Kuot A, Whiting MJ, et al., 'Diabetic retinopathy is associated with elevated serum asymmetric and symmetric dimethylarginines', Diabetes Care, 32, (11) pp. 2084-2086. ISSN 0149-5992 (2009) [Refereed Article] DOI: 10.2337/dc09-0816 [eCite] [Details] Citations: Scopus - 47Web of Science - 44 | |
| 2009 | Burdon KP, Durkin SR, Burke M, Edwards M, Pater J, et al., 'A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family', American Journal of Medical Genetics. Part A, 149, (4) pp. 633-639. ISSN 1552-4825 (2009) [Refereed Article] DOI: 10.1002/ajmg.a.32726 [eCite] [Details] Citations: Scopus - 2Web of Science - 2 | |
| 2009 | Craig JE, Hewitt AW, McMellon AE, Henders AK, Ma L, et al., 'Rapid inexpensive genome-wide association using pooled whole blood', Genome Research, 19, (11) pp. 2075-2080. ISSN 1088-9051 (2009) [Refereed Article] DOI: 10.1101/gr.094680.109 [eCite] [Details] Citations: Scopus - 40Web of Science - 35 Co-authors: Hewitt AW | |
| 2009 | Landers JA, Hewitt AW, Dimasi DP, Charlesworth JC, Straga T, et al., 'Heritability of Central Corneal Thickness in Nuclear Families ', Investigative Ophthalmology and Visual Science (Iovs), 50, (9) pp. 4087-4090 . ISSN 0146-0404 (2009) [Refereed Article] DOI: 10.1167/iovs.08-3271 [eCite] [Details] Citations: Scopus - 39Web of Science - 43 Co-authors: Hewitt AW; Charlesworth JC; Mackey DA | |
| 2009 | Sharma S, Chataway T, Burdon KP, Jonavicius L, Klebe S, et al., '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, 89, (4) pp. 479-485. ISSN 0014-4835 (2009) [Refereed Article] DOI: 10.1016/j.exer.2009.05.001 [eCite] [Details] Citations: Scopus - 67Web of Science - 53 Co-authors: Hewitt AW | |
| 2009 | Zhang T, Hua R, Xiao W, Burdon KP, Bhattacharya SS, et al., 'Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract', Human Mutation, 30, (5) pp. E603-E611. ISSN 1059-7794 (2009) [Refereed Article] DOI: 10.1002/humu.20995 [eCite] [Details] Citations: Scopus - 87Web of Science - 82 | |
| 2008 | Burdon KP, Coster DJ, Charlesworth JC, Mills RA, Laurie KJ, et al., 'Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci', Human Genetics, 124, (4) pp. 379-386 . ISSN 0340-6717 (2008) [Refereed Article] DOI: 10.1007/s00439-008-0555-z [eCite] [Details] Citations: Scopus - 60Web of Science - 52 Co-authors: Charlesworth JC; Hewitt AW | |
| 2008 | Burdon KP, Hattersley K, Lachke SA, Laurie KJ, Maas RL, et al., 'Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract', Molecular Vision, 14 pp. 1799-1804. ISSN 1090-0535 (2008) [Refereed Article] PMID: 18843385 [eCite] [Details] Citations: Scopus - 4Web of Science - 4 | |
| 2008 | Burdon KP, Lehtinen AB, Langefeld CD, Carr JJ, Rich SS, et al., 'Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study', Diabetes and Vascular Disease Research, 5, (2) pp. 128-134. ISSN 1479-1641 (2008) [Refereed Article] DOI: 10.3132/dvdr.2008.021 [eCite] [Details] Citations: Scopus - 54Web of Science - 51 | |
| 2008 | Burdon KP, Sharma S, Hewitt AW, McMellon AE, Wang JJ, et al., 'Genetic analysis of the clusterin gene in pseudoexfoliation syndrome', Molecular Vision, 14, (205-06) pp. 1727-1736. ISSN 1090-0535 (2008) [Refereed Article] PMID: 18806885 [eCite] [Details] Citations: Scopus - 31Web of Science - 28 Co-authors: Hewitt AW; Mackey DA | |
| 2008 | Craig JE, Friend KL, Gecz J, Rattray KM, Troski M, et al., 'A novel locus for X-linked congenital cataract on Xq24', Molecular Vision, 14 pp. 721-726. ISSN 1090-0535 (2008) [Refereed Article] PMID: 18431456 [eCite] [Details] Citations: Scopus - 12Web of Science - 12 Co-authors: Mackey DA | |
| 2008 | Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, et al., 'Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people', Human Molecular Genetics, 17, (5) pp. 710-716. ISSN 0964-6906 (2008) [Refereed Article] DOI: 10.1093/hmg/ddm342 [eCite] [Details] Citations: Scopus - 136Web of Science - 120 Co-authors: Hewitt AW; Mackey DA | |
| 2008 | Ormsby RJ, Ranganathan S, Tong JC, Griggs KM, Dimasi DP, et al., 'Functional and structural implications of the complement factor H Y402H polymorphism associated with Age-Related macular degeneration', Investigative Ophthalmology and Visual Science (Iovs), 49, (5) pp. 1763-1770. ISSN 0146-0404 (2008) [Refereed Article] DOI: 10.1167/iovs.07-1297 [eCite] [Details] Citations: Scopus - 74Web of Science - 70 Co-authors: Hewitt AW | |
| 2008 | Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, et al., 'Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform', Molecular Vision, 14 pp. 1856-1864. ISSN 1090-0535 (2008) [Refereed Article] PMID: 18949062 [eCite] [Details] Citations: Scopus - 27Web of Science - 26 | |
| 2006 | Dickinson JL, Sale MM, Passmore A, Fitzgerald LM, Wheatley CM, et al., 'Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity', Clinical and Experimental Ophthalmology, 34, (7) pp. 682-688. ISSN 1442-6404 (2006) [Refereed Article] DOI: 10.1111/j.1442-9071.2006.01314.x [eCite] [Details] Citations: Scopus - 72Web of Science - 62 Co-authors: Dickinson JL; Sale MM; Passmore A; Fitzgerald LM; Mackey DA | |
| 2005 | Hewitt AW, Burdon KP, 'The relative contribution of the X chromosome to ocular phenotypes', Ophthalmic Genetics, 26, (4) pp. 191-193. ISSN 1381-6810 (2005) [Letter or Note in Journal] DOI: 10.1080/13816810500374375 [eCite] [Details] Citations: Scopus - 1 Co-authors: Hewitt AW | |
| 2005 | McKay JD, Patterson B, Craig JE, Russell-Eggitt E, Wirth MG, et al., 'The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes', British Journal of Ophthalmology, 89, (7) pp. 831-834. ISSN 0007-1161 (2005) [Refereed Article] DOI: 10.1136/bjo.2004.058495 [eCite] [Details] Citations: Scopus - 24Web of Science - 22 Co-authors: McKay JD; Patterson B; Craig JE; Hewitt A; Mackey DA | |
| 2004 | Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, et al., 'A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance', Journal of Medical Genetics, 41, (8) pp. e106-109. ISSN 0022-2593 (2004) [Refereed Article] DOI: 10.1136/jmg.2004.018333 [eCite] [Details] Citations: Scopus - 55Web of Science - 51 Co-authors: Mackey DA; Craig JE; Dickinson JL; Sale MM | |
| 2004 | Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, et al., 'Investigation of crystallin genes in familial cataract, and report of two disease associated mutations', British Journal of Ophthalmology , 88, (1) pp. 79-83. ISSN 0007-1161 (2004) [Refereed Article] DOI: 10.1136/bjo.88.1.79 [eCite] [Details] Citations: Scopus - 69Web of Science - 58 Co-authors: Mackey DA; Craig JE; Dickinson JL; Sale MM | |
| 2003 | Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, et al., 'Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation', American Journal of Human Genetics, 73, (5) pp. 1120-1130. ISSN 0002-9297 (2003) [Refereed Article] DOI: 10.1086/379381 [eCite] [Details] Citations: Scopus - 99Web of Science - 93 Co-authors: McKay JD; Sale MM; Mackey DA; Fitzgerald LM; Stankovich J; Craig JE | |
| 2003 | Burdon KP, Wilkinson RM, Barbour JM, Dickinson JL, Stankovich J, et al., 'Investigation of albinism genes in congenital esotropia', Molecular Vision, 9, (83-85 ) pp. 710-714. ISSN 1090-0535 (2003) [Refereed Article] PMID: 14685142 [eCite] [Details] Citations: Scopus - 8Web of Science - 6 Co-authors: Dickinson JL; Stankovich J; Mackey DA; Sale MM |
Review
(2 outputs)| Year | Citation | Altmetrics |
|---|---|---|
| 2014 | Ng SK, Casson RJ, Burdon KP, Craig JE, 'Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review', Clinical and Experimental Ophthalmology, 42, (1) pp. 25-32. ISSN 1442-6404 (2014) [Substantial Review] DOI: 10.1111/ceo.12234 [eCite] [Details] Citations: Scopus - 28Web of Science - 29 | |
| 2010 | Dimasi DP, Burdon KP, Craig JE, 'The genetics of central corneal thickness', British Journal of Ophthalmology, 94, (8) pp. 971-976. ISSN 0007-1161 (2010) [Substantial Review] DOI: 10.1136/bjo.2009.162735 [eCite] [Details] Citations: Scopus - 75Web of Science - 68 |
Conference Publication
(2 outputs)| Year | Citation | Altmetrics |
|---|---|---|
| 2013 | Burdon KP, Fogarty R, Petrovsky N, Gillies M, Daniell M, et al., 'Genetic variation near GRB2 and KCNB2 identified by a genome-wide association study are reproducibly associated with diabetic retinopathy (Abstract)', Clinical and Experimental Ophthalmology, pp. 119, 41 (Suppl 1). (2013) [Conference Extract] | |
| 2013 | Khong JJ, Goldstein RF, Schneider H, Pope J, Sanders KM, et al., 'Relative selenium deficiency in Graves' orbitopathy (Poster Abstract)', Clinical and Experimental Ophthalmology, pp. 93, 41 (Supp 1). (2013) [Conference Extract] |
Grants & Funding
Funding Summary
Number of grants
20
Total funding
Projects
- Description
- Childhood cataracts are often caused by genetic variants in gap junction genes. However, genetic testing can be inconclusive because we don't know which variants cause disease and which don't. This project will develop laboratory tests to find out if variants detected in three Tasmanian families with childhood cataract cause their disease.
- Funding
- Royal Hobart Hospital Research Foundation ($24,865)
- Scheme
- Grant-Project
- Administered By
- University of Tasmania
- Research Team
- Jones JL; Burdon KP; Wallis M; Verma N; McCartney P
- Year
- 2023
- Description
- Aiming to identify genetic variation that leads to differential outcomes when diabetic eye disease is treated with intraocular anti-VEGF injections.
- Funding
- Ophthalmic Research Institute of Australia ($48,430)
- Scheme
- Grant-Research
- Administered By
- University of Tasmania
- Research Team
- Burdon KP; Verma N; Vote BJT; McComish BJ
- Year
- 2022
- Description
- In children and infants, cataract, or opacity of the lens of the eye, is a severe and debilitating disease that can lead to lifelong visual impairment or blindness. Genetic testing is an important part of the diagnosis of inherited paediatric cataract, however, currently known genes account for less than 60% of patients with this heterogeneous disease. The variability in disease severity and penetrance also complicates the interpretation of genetic tests and genetic counselling. To improve the utility of genetic testing for the diagnosis and management of paediatric cataract we need to identify the remaining causative genes and understand how other factors including modifier genes affect the severity of disease. Our lab houses an extensive DNA repository of over 200 families with inherited paediatric cataract, including 61 families with no known gene mutations, and an additional collection of over 50 affected individuals. This is one of the largest collections of DNA from patients with this disease in the world. Using this valuable resource, we will discover new genes for paediatric cataract in our unsolved families through an innovative use of linkage analysis combined with whole genome sequencing. We will confirm the pathogenicity of newly discovered genes, including two novel genes we have recently identified in Australian families, by gene knockout in a zebrafish model. We will extend these ideas further and undertake the first ever attempt to identify modifier genes for paediatric cataract. We are uniquely placed to do this as our repository contains several large families with highly variable disease severity amenable to gene mapping. The findings from this research will markedly improve the completeness of genetic tests for paediatric cataract and will begin to shed light on the complex nature of the disease in some families.
- Funding
- National Health & Medical Research Council ($1,011,130)
- Scheme
- Grant-Ideas
- Administered By
- University of Tasmania
- Research Team
- Burdon KP; Ruddle J; McComish BJ; Kearns L
- Period
- 2020 - 2023
- Grant Reference
- 1185477
- Description
- We will investigate the genetics of glaucoma and exfoliation in Ethiopia. We will determine if the genetic markers discovered in European populations are relevant and undertake analyses to identify novel genetic risk variants.
- Funding
- Bright Focus Foundation ($144,241)
- Scheme
- Grant-Research:National Glaucoma
- Administered By
- University of Tasmania
- Research Team
- Burdon KP; Gessesse G
- Year
- 2020
- Description
- This project aims to identify risk factors that predict response to intraocular anti-VEGF therapy in diabetic macular edema. This treatment is ineffective in many patients and is expensive and invasive. By determining who will benefit, we hope to be able to choose the most appropriate treatment for each patient.
- Funding
- Royal Hobart Hospital Research Foundation ($24,888)
- Scheme
- Grant-Project
- Administered By
- University of Tasmania
- Research Team
- McComish BJ; Burdon KP; Verma N
- Year
- 2020
- Funding
- Diabetes Tasmania ($55,726)
- Scheme
- Contract Research
- Administered By
- University of Tasmania
- Research Team
- Burdon KP
- Period
- 2018 - 2021
- Description
- Cataract is one of the most common causes of visual impairment and when it occurs inchildren it can have a lifelong impact on their vision. We will identify the genes involved incataract and investigate the mechanisms of cataract formation in adults and children. Agreater understanding of the molecular basis of the disease will improve diagnostic rates forchildren and families and provide the basis for developing non-surgical treatments withfewer side effects for adults and children.
- Funding
- University of Tasmania ($24,783)
- Scheme
- Grant- Research Enhancement Program
- Administered By
- University of Tasmania
- Research Team
- Burdon KP; Foa LC
- Year
- 2018
- Description
- Glaucoma is the commonest cause of irreversible blindness worldwide. The only available treatment proven to slow glaucoma progression is lowering of intraocular pressure. However, despite treatment, many individuals still develop progressive loss of vision. For those at high risk of blindness, early treatment reduces the likelihood of major visual disability. Conversely, for low-risk individuals, costly lifelong treatment may be instituted unnecessarily. Individuals with suspicious optic disc appearances but normal visual fields are known as glaucoma suspects. Current ability to predict the risk of blindness in glaucoma suspects and early glaucoma is extremely poor. Recent genome-wide association studies by us and others have identified multiple genes associated with glaucoma, and we are extending our work to discover further common genetic associations for glaucoma by meta-analysis. We will then investigate whether these genetic variants are associated with conversion of glaucoma suspects to glaucoma with vision loss, and with the rate of progression in established early glaucoma. The study will enroll subjects classified as (A) "glaucoma suspects", a group in which the decision to monitor or treat is poorly defined with current evidence, and (B) early manifest glaucoma, a group in which ability to predict progression rates would impact on timing and type of treatment. We will monitor 1000 participants in each arm for the duration of the study to determine whether glaucoma genetic risk variants are associated with clinical progression parameters. The risk factors for progression to glaucoma have not been previously studied in the full range of glaucoma suspects, and genetic risk profiling has not been attempted in a prospective study of early manifest glaucoma progression. An evidence based process for risk adjustment in the early stages of disease would have a favourable impact on the budget required for monitoring and treating this group of patients.
- Funding
- National Health & Medical Research Council ($844,966)
- Scheme
- Grant-Project
- Administered By
- Flinders University
- Research Team
- Craig J; Graham S; MacGregor S; Mackey D; Burdon KP; Landers J; Gharahkhani P; Casson R; Ruddle J
- Period
- 2018 - 2022
- Grant Reference
- 1147571
- Description
- Multiple sclerosis (MS) is the most common, disabling nervous system disease in young adults. In MS,the immune system attacks the brain and spinal cord, and current treatments act to suppress theimmune system not repair the damage. This project studies the genetics of families with MS todetermine why some people are more susceptible to nerve damage following the immune attack. Weuse whole genome sequencing of all closely related individuals in families, including three of morepeople with MS, and study their genomes to find the genetic differences between affected andunaffected relatives. This work will find new MS risk genes that can be further studied by ourlaboratory-based stem cell biology team using cell-based models of disease. The research willultimately lead to treatments aimed at protecting or repairing the nervous system.
- Funding
- University of Tasmania ($24,928)
- Scheme
- Grant- Research Enhancement Program
- Administered By
- University of Tasmania
- Research Team
- Charlesworth JC; Young K; Burdon KP; Taylor BVM; McComish BJ
- Year
- 2018
- Description
- We will use data from extended families with a dense clustering of MS cases to identify rare short tandem repeat variants associated with multiple sclerosis. Highly ranked variants will be further investigated in MS and control cohorts to identify correlations between STR allele length and the severity and age of onset of MS.
- Funding
- Multiple Sclerosis Australia ($25,000)
- Scheme
- Grant-Incubator
- Administered By
- University of Tasmania
- Research Team
- McComish BJ; Charlesworth JC; Burdon KP
- Year
- 2018
- Description
- Australia is facing a public health crisis of overweight and obesity. In 2014-15, nearly two out of three (63%) Australian adults and over one quarter (27%) of Australian children and adolescents aged 5-17 years were overweight or obese. Overweight and obese children are more likely to become overweight and obese adults than normal weight children. There are substantial health benefits if childhood overweight and obesity 'resolve' over time but very little is known about what predicts this pathway. Recent epigenome-wide association studies (EWAS) suggest a close relationship between BMI and DNA methylation, a key regulator of gene expression and molecular phenotype. This project aims to investigate the relationship between DNA methylation and BMI trajectories from childhood to midlife. Furthermore, we aim to examine the association between DNA methylation and obesity-related diseases, such as metabolic syndrome, hypercholesterolemia and depression.
- Funding
- University of Tasmania ($25,000)
- Scheme
- Grant- Research Enhancement Program
- Administered By
- University of Tasmania
- Research Team
- Tian J; Venn A; FitzGerald LM; Burdon KP
- Year
- 2018
- Description
- This work will sequence the associated LRP2 gene region to identify the functional variants that modulate MS relapse risk, which is the primary endpoint of many pivotal clinical trials testing the efficacy of MS disease-modifying drugs.
- Funding
- Royal Hobart Hospital Research Foundation ($24,933)
- Scheme
- Grant-Minor Project
- Administered By
- University of Tasmania
- Research Team
- Zhou Y; Taylor BVM; Charlesworth JC; Burdon KP
- Year
- 2018
- Description
- Ophthalmology has always been at the forefront of genetic discovery and this has led to an improved understanding of the biological mechanism of manyinherited eye diseases. This CRE brings together leading researchers from all the genetic eye disease groups across Australia to capitalize on the newtechnologies in ocular imaging and genetic discovery. The research team has a strong track record in identifying and characterising genes that cause bothMendelian and complex blinding eye diseases and in translating these findings into clinical care. Building on our previous experience and using new imagingtechnology such as optical coherence tomography, adaptive optics and micro-perimetry we will progress research to precisely define the natural history ofblinding eye diseases. This is essential for clinical trials to proceed efficiently. Access to a national network of patients and families with specific geneticsubtypes of eye diseases will enable us to facilitate and initiate treatment trials for inherited ophthalmic conditions. In conjunction with patient andcommunity organisations we will develop world leading models for genetic risk prediction and for feedback of genetic results for both Mendelian andcomplex eye diseases. Our work will extend to analyzing health economics as well as the legal and ethical aspects of genetic research. Central to the CRE willbe the training of researchers and eye care providers to develop best clinical practice using our research findings. Our team members are experiencedparticipants in international consortia for eye disease gene discovery; Australia's national disease registries and biobanks place us in a key position to alsoparticipate in international gene based treatment trials for a large number of disorders. Translation of this research into care for genetic eye disease ispredictive, preventive, personalised and participatory.
- Funding
- National Health & Medical Research Council ($2,498,223)
- Scheme
- Grant-Centre of Research Excellence
- Administered By
- University of Western Australia
- Research Team
- Mackey D; Craig J; Hewitt A; Burdon KP; Jamieson R; Grigg JR; MacGregor S; Chen F; Otlowski MFA; Schofield D
- Period
- 2017 - 2021
- Grant Reference
- 1116360
- Description
- Keratoconus is a disease of the cornea at the front of the eye characterized by progressive corneal thinning and conical protrusion, leading to severe vision loss and potentially blindness. The causes are not understood and current treatments are invasive and suboptimal. Keratoconus has a major genetic component, most of which remains unexplained. We will identify novel genes and variants contributing to keratoconus risk with the aim of increasing understanding of the molecular causes of this disease. We will apply state-of-the art whole genome sequencing technology to a traditional family based gene discovery approach, incorporating linkage analysis to guide variant prioritization in large families with autosomal dominant keratoconus. Genes in which we identify candidate mutations will be re-sequenced in our unique Australian cohort of 672 keratoconus patients to identify additional variants contributing to disease in these genes. Genome-wide association studies for keratoconus and the endophenotype of central corneal thickness have recently identified four loci reaching robust statistical significance for association with keratoconus. We will dissect these loci to identify the likely causative variants through detailed fine mapping and re-sequencing of the risk haplotype in our cohort. Bioinformatics will be used to rank variants for their likely involvement and to prioritise them for future functional work. These experiments will be further complemented by our International collaborations allowing access to data from additional keratoconus cases in which high ranked variants will be assessed for association. We will also investigate the expression level of genes at each of the loci in diseased and normal cornea to determine if these are the genes influenced by the observed SNP associations. In summary, this project will identify novel genes and variants associated with keratoconus, furthering our understanding of the processes underlying this disease.
- Funding
- National Health & Medical Research Council ($912,880)
- Scheme
- Grant-Project
- Administered By
- University of Tasmania
- Research Team
- Burdon KP; Charlesworth JC; Baird P; Mills R; Sharma S
- Period
- 2016 - 2018
- Grant Reference
- 1104700
- Description
- Primary Open Angle Glaucoma (POAG) is the leading cause of irreversible blindness worldwide. The etiology of the disease is poorly understood, but it is clear that there is a major genetic component. Highly penetrant mutations in the Myocilin gene and a number of other glaucoma genes account for around 5%of POAG, and recent genome-wide association studies have identified common variants, individually of modest effect size associated with POAG in multiple cohorts. However, the majority of the heritability of POAG remains unaccounted for. We hypothesise that a significant proportion of the "missing heritability" is accounted for by rare variants of larger effect size in causative genes. We propose to sequence the exome (all known genes and transcribed regions) of a unique large well-characterised cohort of patients with very severe POAG, to identify genes enriched for deleterious mutations. This extreme phenotype strategy will increase the power to identify pathogenic mutations. Exome analysis will be performed on 1500 participants in the Australian and New Zealand Registry of Advanced Glaucoma. Genes containing the most potentially damaging variants compared with population controls will be sequenced in a replication cohort, versus hyper-normal controls to confirm the findings and identify the mutation spectrum in each gene. Disease associated genes will be investigated by expression profiling in a mouse model of glaucoma. Mice with mutations in genes of interest will be phenotypically analysed in a collaborative initiative to demonstrate a causal relationship with glaucoma. This project will determine the genes most commonly mutated in individuals with advanced glaucoma. This will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and elucidate drug targets fornovel therapies
- Funding
- National Health & Medical Research Council ($1,345,055)
- Scheme
- Grant-Project
- Administered By
- Flinders University
- Research Team
- Craig J; Burdon KP; MacGregor S; Hewitt A; John S; Siggs O
- Period
- 2016 - 2018
- Grant Reference
- 1107098
- Description
- Purchase of a 3500 Genetic Analyzer for the sequencing of DNA to support genetic and molecular research.
- Funding
- Ian Potter Foundation ($80,000)
- Scheme
- Grant
- Administered By
- University of Tasmania
- Research Team
- Burdon KP; Dickinson JL
- Year
- 2015
- Description
- The aim of this project is to generate "genomics hub" building on current research expertise, laboratory facilities, analytical capabilities, by providing a co-ordinated administration hub and core genomics reference resource. The Menzies has a strategic focus on utilising the unique features of the Tasmanian population for health research Including genomlcs to address the burden of disease in Tasmania. A/Prof Dickinson's team has attracted nationally competitive funding to build expertise, bioinformatics analysis skills in genomics, a laboratory facility equipped with next generation sequencing technology and a computing facility. The funding requested will address two immediate needs *a "genomics hub" co-ordinator, and*a Tasmanian reference genome database.This will facilitate expansion of genomics research in Tasmania, by providing the necessary foundation for leveraging external funding, providing world-class training opportunities for students and importantly will position the University to keep pace internationally in the field of genomics.
- Funding
- University of Tasmania ($200,000)
- Scheme
- Grant-Strategic Research
- Administered By
- University of Tasmania
- Research Team
- Dickinson JL; Burdon KP; Charlesworth JC; Chalmers DRC; Nicol D; Maxwell-Stewart HJ
- Period
- 2015 - 2016
- Description
- This research program aims to improve understanding of the genetic risk factors for blinding eye disease. Through the identification of genetic variation associated with disease, the project team will move towards accurate genetic risk prediction models and identify molecular targets for the development of novel therapies to prevent blindness. The diseases under investigations are glaucoma, diabetic eye disease and keratoconus in adults and congential cataract in children. These diseases are all major causes of blindness and visual impairment in the age group they affect. The project team has recently completed or are conducting genome-wide association scans to identify genetic variation associated with each adult disease. The current project will investigate observed associations in detail to determine the exact variant and gene likely to be involved in the disease. The project aims to survey all the genetic variation in each associated region and determine how that variation relates not only to disease state but also to levels of gene expression. It will investigate ocular expression patterns of each candidate at both gene and protein levels. The research will use massively parallel sequencing, primarily in the form of exome sequencing, but expanding into whole genome as necessary, to identify mutations leading to the Mendelian disease, congenital cataract. Genes identified in specific families are then screened in a large repository of families to confirm the findings and explore the contribution of the gene to the disease as a whole. The project is also using exome sequencing to identify rare or private mutations contributing to glaucoma. This approach has not been used extensively in complex disease to date, but is gaining popularity as it becomes economical. This technology should be able to identify the rare variation that likely accounts for a portion of the so called "missing heritability" in complex disease in appropriately powered studies.
- Funding
- National Health & Medical Research Council ($731,255)
- Scheme
- Fellowship-Research
- Administered By
- University of Tasmania
- Research Team
- Burdon KP
- Period
- 2014 - 2019
- Grant Reference
- 1059954
- Description
- This project will establish a biobank of DNA samples from Tasmanians to support genetic research into eye diseases. Recruitment will occur through opthalmologists, endocrinologists and GPs.
- Funding
- Tasmanian Community Fund ($89,724)
- Scheme
- Grant
- Administered By
- University of Tasmania
- Research Team
- Burdon KP; Hewitt A
- Period
- 2014 - 2015
- Description
- Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. This investigation aims to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.
- Funding
- National Health & Medical Research Council ($671,329)
- Scheme
- Grant-Project
- Administered By
- University of Tasmania
- Research Team
- Charlesworth JC; Blangero J; Mackey D; Burdon KP
- Period
- 2013 - 2015
- Grant Reference
- 1044996
Research Supervision
Current
11
Completed
6
Current
| Degree | Title | Commenced |
|---|---|---|
| PhD | Sequence Based Gene Identification Using Families | 2017 |
| PhD | Discovery of Rare Disease-Causing Variants using Next Generation Sequencing Data from a Tasmanian Prostate Cancer Pedigree | 2019 |
| PhD | Diabetic Macular Edema: Genetics and treatment response | 2019 |
| Masters | Identifying Potentially Pathogenic Variants that Contribute to Keratoconus in Families | 2019 |
| PhD | Investigating the Impact of Inherited Genomic Variation on Prostate Cancer Risk and Tumour Development | 2019 |
| Masters | Keratoconus - Genome Wide Association Studies | 2020 |
| PhD | Identification of Novel Genetic Variants Associated with Cardiovascular Disease Risk | 2021 |
| PhD | Identification of Genes Causing Inherited Paediatric Cataract | 2021 |
| PhD | Improving Genetic Testing for Paediatric Cataract | 2022 |
| PhD | Genetic Variation in MultipleSclerosis | 2022 |
| PhD | A Multi-omics Study of Multiple Sclerosis: using multi-omics to discover prognostic biomarkers for MS onset and progression & understanding MS risk via Epstein-Barr virus genomics | 2023 |
Completed
| Degree | Title | Completed |
|---|---|---|
| PhD | Uncovering Genetic Risk Factors in Multiple Sclerosis using a Family-based Approach Candidate: Ming Chen | 2022 |
| PhD | Identifying Genetic Causes of Paediatric Cataract Onset and Severity: Validation of candidate gene HTR1F and mapping of modifier genes Candidate: Duran Zhao | 2022 |
| PhD | Identifying the Genetic Causes of Paediatric Cataract in Australian Families Candidate: Johanna Lee Jones | 2020 |
| PhD | Identifying Glaucoma Susceptibility Genes in Extended Families Candidate: Patricia Stacey Graham | 2020 |
| PhD | Using Families to Understand the Impact of Genetic Variation on Prostate Cancer Candidate: Kelsie Raspin | 2020 |
| PhD | Identifying Genetic Variation Contributing to Keratoconus Candidate: Sionne Edie Marguerite Lucas | 2019 |