Profiles

Kathryn Burdon

UTAS Home Assoc Prof Kathryn Burdon
Kathryn Burdon

Kathryn Burdon

Senior Research Fellow / Principal Research Fellow Cancer, Genetics and Immunology
Menzies Institute for Medical Research

Hobart CBD Campuses

+61 3 6226 4288 (phone)

Kathryn.Burdon@utas.edu.au

Biography

Assoc 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

Research Appointments

2014-present - Principal Research Fellow, Cancer, Genetics and Immunology, Menzies Research Institute Tasmania

2014-2018 - Senior Research Fellowship, National Health and Medical Research Council, Australia, administered by University of Tasmania

View more on AssocProf Kathryn Burdon in WARP

Research Themes

Assoc 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. Assoc 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, Assoc 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 (111301)
  • Genomics (060408)
  • Quantitative Genetics (incl. Disease and Trait Mapping Genetics) (060412)
  • Vision Science (111303)
  • Medical Genetics (excl. Cancer Genetics) (110311)
  • Neurogenetics (060410)
  • Bioethics (human and animal) (220101)
  • Epidemiology (111706)
  • Autoimmunity (110703)
  • Immunogenetics (incl. Genetic Immunology) (110706)
  • Central Nervous System (110903)
  • Preventive Medicine (111716)
  • Primary Health Care (111717)
  • Sensory Systems (110906)
  • Regenerative Medicine (incl. Stem Cells and Tissue Engineering) (100404)
  • Medical Ethics (220106)
  • Cellular Nervous System (110902)
  • Health Promotion (111712)
  • Medical Biochemistry: Amino Acids and Metabolites (110101)

Research Objectives

  • Hearing, Vision, Speech and Their Disorders (920107)
  • Inherited Diseases (incl. Gene Therapy) (920110)
  • Diabetes (920104)
  • Nervous System and Disorders (920111)
  • Bioethics (950401)
  • Health (929999)
  • Cancer and Related Disorders (920102)
  • Behaviour and Health (920401)
  • Preventive Medicine (920412)
  • Neurodegenerative Disorders Related to Ageing (920112)
  • Social Structure and Health (920413)
  • Health Status (e.g. Indicators of Well-Being) (920408)
  • Expanding Knowledge in the Medical and Health Sciences (970111)

Publications

Total publications

144

Highlighted publications

(4 outputs)
YearTypeCitationAltmetrics
2014Journal ArticleGharahkhani 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 - 58Web of Science - 59

Co-authors: Hewitt AW; Mackey DA

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2013Journal ArticleLu 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 - 116Web of Science - 123

Co-authors: Hewitt AW; Mackey DA

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2011Journal ArticleBurdon 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 - 221Web of Science - 219

Co-authors: Hewitt AW; Mackey DA

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2003Journal ArticleBurdon 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 - 73Web of Science - 68

Co-authors: McKay JD; Sale MM; Mackey DA; Fitzgerald LM; Stankovich J; Craig JE

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Journal Article

(140 outputs)
YearCitationAltmetrics
2018Burdon 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]

Co-authors: Hewitt AW

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2018Cooke 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]

Co-authors: Hewitt AW; Mackey DA

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2018Graham 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]

Co-authors: Hewitt AW

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2018Iglesias 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: Web of Science - 2

Co-authors: Lucas SEM; Hewitt AW

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2018Javadiyan S, Lucas SEM, 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 pp. 1-10. ISSN 2324-9269 (2018) [Refereed Article]

DOI: 10.1002/mgg3.406 [eCite] [Details]

Co-authors: Lucas SEM

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2018Kaidonis 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]

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2018Lucas SEM, 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]

Co-authors: Lucas SEM; Blackburn NB; Charlesworth JC

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2018Shiga 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]

Co-authors: Hewitt AW; Mackey DA

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2018Souzeau 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]

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2018Gharahkhani 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]

Co-authors: Hewitt AW; Mackey DA

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2017Souzeau 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 - 3Web of Science - 4

Co-authors: Mackey DA; Hewitt AW

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2017Aung 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 - 8Web of Science - 8

Co-authors: Hewitt AW

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2017Kuot 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 - 1

Co-authors: Hewitt AW

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2017Liu 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: Web of Science - 3

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2017Lucas SEM, 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 - 1Web of Science - 1

Co-authors: Lucas SEM; Blackburn NB; Charlesworth JC

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2017Nicol 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) [Refereed Article]

DOI: 10.1186/s13073-017-0475-4 [eCite] [Details]

Co-authors: Nicol D; Eckstein L; Otlowski M; Chalmers D; Charlesworth J; Dickinson JL; Hewitt AW; Mackey DA; Nielsen J; McWhirter RE

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2017Siggs 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 - 2Web of Science - 1

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2017Sobrin 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]

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2017Javadiyan 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 - 2Web of Science - 1

Co-authors: Mackey DA; Hewitt AW

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2017Souzeau 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 - 4Web of Science - 5

Co-authors: Mackey DA; Hewitt AW

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2017Springelkamp 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 - 18Web of Science - 21

Co-authors: Hewitt AW; Mackey DA

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2017Yazar 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]

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2017Zhou 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]

Co-authors: Hewitt AW; Mackey DA

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2017Zhou 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 - 1Web of Science - 1

Co-authors: Hewitt AW; Mackey DA

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2017Afshari 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 - 12Web of Science - 11

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2017Javadiyan 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 - 2Web of Science - 2

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2016Burdon 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]

DOI: 10.1167/iovs.16-20917 [eCite] [Details]

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2016Cuellar-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 - 6Web of Science - 6

Co-authors: Mackey DA; Hewitt AW

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2016Dave 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]

[eCite] [Details]

Citations: Web of Science - 8

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2016Javadiyan 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 - 7

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2016Kaidonis 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 - 1Web of Science - 1

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2016Kaidonis 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 - 17Web of Science - 17

Co-authors: Hewitt AW

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2016Khong 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 - 1Web of Science - 1

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2016Khong 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 - 1Web of Science - 1

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2016Khor 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 - 25Web of Science - 28

Co-authors: Hewitt AW

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2016Ng 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 - 9Web of Science - 8

Co-authors: Hewitt AW

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2016Bailey 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 - 62Web of Science - 60

Co-authors: Hewitt AW; Mackey DA

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2016Sharma 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 - 4Web of Science - 4

Co-authors: Hewitt AW

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2016Souma 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 - 23Web of Science - 23

Co-authors: Hewitt AW; Mackey DA

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2016Souzeau 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 - 3Web of Science - 2

Co-authors: Mackey DA; Hewitt AW; Otlowski M

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2016Souzeau 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 - 3Web of Science - 2

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2016Zhou 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: Web of Science - 1

Co-authors: Hewitt AW

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2016Riaz 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 - 7Web of Science - 5

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2015Aung 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 - 26Web of Science - 26

Co-authors: Hewitt AW

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2015Awadalla 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 - 26Web of Science - 22

Co-authors: Hewitt AW

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2015Burdon 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 - 1Web of Science - 1

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2015Burdon 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 - 19Web of Science - 14

Co-authors: Hewitt AW

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2015Burdon 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 - 7Web of Science - 6

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2015Cuellar-Partida G, Springelkamp H, Lucas SEM, 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 - 14Web of Science - 12

Co-authors: Lucas SEM; Hewitt AW

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2015Fritsche 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: Web of Science - 171

Co-authors: Vote BJ; Mackey DA; Hewitt AW

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2015Gharahkhani 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 - 5Web of Science - 5

Co-authors: Hewitt AW; Mackey DA

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2015Kaidonis 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 - 9Web of Science - 6

Co-authors: Hewitt AW

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2015Awadalla 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]

DOI: 10.1001/jamaophthalmol.2014.4919 [eCite] [Details]

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2015Law 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 - 63Web of Science - 58

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2015Li 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 - 34Web of Science - 35

Co-authors: Hewitt AW; Mackey DA

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2015Souzeau 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 - 4Web of Science - 4

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2015Souzeau 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]

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Co-authors: Mackey DA

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2015Souzeau 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 - 5Web of Science - 5

Co-authors: Mackey DA; Hewitt AW

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2015Springelkamp 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 - 25Web of Science - 24

Co-authors: Hewitt AW; Mackey DA

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2015Springelkamp 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 - 24Web of Science - 24

Co-authors: Mackey DA; Hewitt AW

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2015Van 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 - 16Web of Science - 14

Co-authors: Hewitt A

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2015Khong 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 - 7Web of Science - 6

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2014Awadalla 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 - 13Web of Science - 13

Co-authors: Hewitt A

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2014Crawford 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 - 2Web of Science - 1

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2014Gharahkhani 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 - 58Web of Science - 59

Co-authors: Hewitt AW; Mackey DA

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2014Hysi 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 - 72Web of Science - 74

Co-authors: Hewitt AW; Mackey DA

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2014Kaidonis 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 - 8Web of Science - 4

Co-authors: Hewitt AW

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2014Kaidonis 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 - 8Web of Science - 8

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2014Khong 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]

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Citations: Scopus - 17Web of Science - 15

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2014Kuot 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 - 1Web of Science - 1

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2014Landers J, Hewitt A, Straga T, Burdon KP, Craig JE, 'Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene', Clinical and Experimental Ophthalmology pp. 1-2. 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 A

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2014Landers 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 pp. 1-2. ISSN 1442-6404 (2014) [Letter or Note in Journal]

DOI: 10.1111/ceo.12388 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2014Liu 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 - 10Web of Science - 10

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2014Souzeau 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 - 9Web of Science - 8

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2014Springelkamp 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 - 39Web of Science - 39

Co-authors: Mackey DA; Hewitt A

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2013Awadalla 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 - 15Web of Science - 13

Co-authors: Hewitt AW

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2013Awadalla 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 - 16Web of Science - 17

Co-authors: Hewitt AW

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2013Burdon 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 - 39Web of Science - 35

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2013Cheng 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 - 51Web of Science - 47

Co-authors: Hewitt AW; Mackey DA

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2013Chidlow 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]

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Citations: Scopus - 7Web of Science - 6

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2013Dave 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 - 19Web of Science - 18

Co-authors: Mackey DA

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2013Laurie 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 - 14Web of Science - 11

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2013Lu 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 - 116Web of Science - 123

Co-authors: Hewitt AW; Mackey DA

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2013Souzeau 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 - 20Web of Science - 19

Co-authors: Hewitt AW; Mackey DA

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2013Tug 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 - 10Web of Science - 9

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2013Verhoeven 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 - 168Web of Science - 166

Co-authors: Hewitt AW; Mackey DA

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2013Willoughby 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]

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Citations: Web of Science - 21

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2013Bae 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]

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Citations: Scopus - 13Web of Science - 12

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2012Burdon 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 - 16Web of Science - 15

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2012Dimasi 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 - 14Web of Science - 14

Co-authors: Hewitt AW; Mackey DA

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2012Awadalla 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 - 7Web of Science - 4

Co-authors: Hewitt AW

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2012Fogarty 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]

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Citations: Scopus - 8Web of Science - 9

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2012Javadiyan 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 - 14Web of Science - 14

Co-authors: Hewitt AW

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2012Kuot 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 - 35Web of Science - 33

Co-authors: Hewitt AW

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2012Sharma 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 - 19Web of Science - 20

Co-authors: Hewitt AW; Mackey DA

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2012Souzeau 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 - 28Web of Science - 26

Co-authors: Hewitt AW; Mackey DA

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2012Young 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 - 5Web of Science - 5

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2012Burdon 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 - 44Web of Science - 41

Co-authors: Hewitt AW; Mackey DA

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2011Awadalla 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 - 16Web of Science - 14

Co-authors: Hewitt AW

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2011Burdon 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 - 57Web of Science - 55

Co-authors: Hewitt AW

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2011Burdon 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 - 221Web of Science - 219

Co-authors: Hewitt AW; Mackey DA

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2011Dimasi 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 - 12Web of Science - 8

Co-authors: Hewitt AW

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2011Khan 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 - 30Web of Science - 30

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2011Pratap 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

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2011Ronci 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 - 17Web of Science - 16

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2011Awadalla 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 - 29Web of Science - 27

Co-authors: Hewitt AW

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2010Abhary 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 - 33Web of Science - 30

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2010Abhary 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]

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Citations: Scopus - 42Web of Science - 37

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2010Abhary 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]

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Citations: Scopus - 25Web of Science - 14

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2010Burdon 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 - 7Web of Science - 7

Co-authors: Hewitt AW; Mackey DA

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2010Burdon 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]

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Citations: Scopus - 25Web of Science - 19

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2010Dimasi 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 - 10Web of Science - 10

Co-authors: Hewitt AW; Mackey DA

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2010Dimasi 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 - 19Web of Science - 19

Co-authors: Hewitt AW; Mackey DA

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2010Hattersley 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

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2010Lu 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 - 81Web of Science - 76

Co-authors: Hewitt AW; Mackey DA

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2010Thorleifsson 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 - 223Web of Science - 209

Co-authors: Hewitt AW; Mackey DA

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2009Abhary 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 - 42Web of Science - 38

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2009Abhary 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 - 121Web of Science - 106

Co-authors: Hewitt AW

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2009Abhary 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 - 20Web of Science - 20

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2009Burdon 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

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2009Craig 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 - 31Web of Science - 27

Co-authors: Hewitt AW

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2009Landers 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 - 27Web of Science - 29

Co-authors: Hewitt AW; Charlesworth JC; Mackey DA

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2009Sharma 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 - 41Web of Science - 31

Co-authors: Hewitt AW

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2009Zhang 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 - 63Web of Science - 60

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2009Abhary 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 - 3Web of Science - 3

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2008Burdon 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 - 42Web of Science - 36

Co-authors: Charlesworth JC; Hewitt AW

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2008Burdon 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 - 3Web of Science - 3

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2008Burdon 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 - 41Web of Science - 39

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2008Burdon 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 - 24Web of Science - 21

Co-authors: Hewitt AW; Mackey DA

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2008Craig 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 - 11

Co-authors: Mackey DA

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2008Hewitt 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 - 116Web of Science - 100

Co-authors: Hewitt AW; Mackey DA

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2008Ormsby 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 - 61Web of Science - 59

Co-authors: Hewitt AW

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2008Sharma 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 - 22Web of Science - 22

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2006Dickinson 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 - 54Web of Science - 44

Co-authors: Dickinson JL; Sale MM; Passmore A; Fitzgerald LM; Mackey DA

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2005Hewitt 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

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2005McKay 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 - 20Web of Science - 20

Co-authors: McKay JD; Patterson B; Craig JE; Hewitt A; Mackey DA

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2004Burdon 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 - 43Web of Science - 44

Co-authors: Mackey DA; Craig JE; Dickinson JL; Sale MM

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2004Burdon 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 - 62Web of Science - 51

Co-authors: Mackey DA; Craig JE; Dickinson JL; Sale MM

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2003Burdon 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 - 73Web of Science - 68

Co-authors: McKay JD; Sale MM; Mackey DA; Fitzgerald LM; Stankovich J; Craig JE

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2003Burdon 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 - 7Web of Science - 6

Co-authors: Dickinson JL; Stankovich J; Mackey DA; Sale MM

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Review

(2 outputs)
YearCitationAltmetrics
2014Ng 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 - 20Web of Science - 20

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2010Dimasi 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 - 48Web of Science - 43

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Conference Publication

(2 outputs)
YearCitationAltmetrics
2013Burdon 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]

[eCite] [Details]

2013Khong 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]

[eCite] [Details]

Grants & Funding

Funding Summary

Number of grants

12

Total funding

$7,143,313

Projects

Molecular, biochemical and genetic mechanisms of cataract in adults and children - improving diagnosis and outcomes (2018)$24,783
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
Translation of glaucoma blindness genes to improve clinical practice (2018 - 2022)$844,966
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; Hewitt A; MacGregor S; Mackey D; Burdon KP; Palmer LJ; Landers J; Gharahkhani P; Casson R
Period
2018 - 2022
Grant Reference
1147571
Investigating the role of short tandem repeat sequence variation in multiple sclerosis. (2018)$25,000
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 Research Australia ($25,000)
Scheme
Grant-Incubator
Administered By
University of Tasmania
Research Team
McComish BJ; Charlesworth JC; Burdon KP
Year
2018
Understanding the life course relationship of DNA methylation with obesity traits and its association with obesity-related diseases (2018)$25,000
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 Jing; Venn A; Fitzgerald LM; Burdon KP
Year
2018
The modulation of multiple sclerosis (MS) relapse risk by genetic variations in the LRP2 gene (2018)$24,933
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
From Discovery to therapy in genetic eye diseases (2017 - 2021)$2,498,223
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; Australias 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
Gene Identification for Keratoconus - a Blinding Eye Disease (2016 - 2018)$912,880
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
High penetrance deleterious mutations in blinding glaucoma (2016 - 2018)$1,345,055
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
DNA sequencer for genetic research (2015)$80,000
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
Understanding genetic causes of blindness (2014 - 2018)$601,420
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 ($601,420)
Scheme
Fellowship-Research
Administered By
University of Tasmania
Research Team
Burdon KP
Period
2014 - 2018
Grant Reference
1059954
Tasmanian Opthalmic Biobank (2014 - 2015)$89,724
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 Alex
Period
2014 - 2015
Finding glaucoma susceptibility variants by sequencing large families known to carry disease genes (2013 - 2015)$671,329
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

7

Current

DegreeTitleCommenced
PhDInvestigations of Keratoconus Genetics2015
PhDFamilial Prostate Cancer Genetic Research Study2016
PhDCongenital Cataract Genetics in Australian Families2016
PhDIdentifying Glaucoma Susceptibility Variants by Sequencing Large Families2016
PhDIdentifying Functional Causal Variants in Multiple Sclerosis2017
PhDSequence Based Gene Identification Using Families2017
PhDFunctional Evaluation of Mutations in HTR1F and Other Paediatric Cataract Genes2017