Profiles

Alexander Hewitt

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Alexander Hewitt

Alex Hewitt

Associate Professor in Ophthalmology
Menzies Institute for Medical Research | Medicine

Hobart CBD Campuses

+61 3 6226 7700 (phone)

Alex.Hewitt@utas.edu.au

Career summary

Qualifications

  • PhD, Flinders University of South Australia, 2009, Molecular and Phenotypic Associations of the Glaucomas
  • Fellowship, Royal Australian and New Zealand College of Ophthalmology, 2013
  • Masters of Medical Science (Clin Epi), Newcastle University, Australia, 2004
  • MBBS (First Class Honours), University of Tasmania, Australia, 2001
  • B Med Sci (Hons), University of Tasmania, 2000

Biography

Alex Hewitt is a clinician-scientist. During medical training he completed a B.Med.Sci.(Hons) degree investigating the outcomes of cataract surgery for people living in remote areas of the Northern Territory. In 2001, Alex Hewitt completed his undergraduate medical degree at the University of Tasmania, where he graduated Dux of final year. He obtained his PhD investigating the molecular and phenotypic associations for open angle glaucoma from Flinders University of South Australia in 2009, under the supervision of Professors Jamie Craig and David Mackey. Alex Hewitt completed formal Ophthalmology training at the Royal Victorian Eye and Ear Hospital in Melbourne in 2011, and the following year he was the Novartis Research Fellow at the Lions Eye Institute and was awarded a WA Tall Poppy Award from the Australian Institute of Policy & Science. Alex is currently supported by a Peter Doherty NHMRC Council Biomedical Early Career Fellowship and is a Principal Investigator at the Centre for Eye Research Australia, as well as at the Menzies Institute for Medical Research, University of Tasmania School of Medicine.

Research Themes

Alex's research aligns with one of the University's key research themes of Better Health. His main research interests lie in the molecular mechanisms of ocular disease, in particular the blinding disease glaucoma. He has been involved with work relating to the identification of genes and risk variants associated with primary open-angle glaucoma and myopia, as well as quantitative traits such as central corneal thickness, optic nerve size and the retinal microvascular circulation.

Memberships

Professional practice

Since 2011 Alex has been a member of the research advisory panel of Ophthalmic Research Institute of Australia and in 2012 became a member of the Scientific Advisory Panel of the Arthritis Genomics Recruitment Initiative in Australasia (AGRIA). He has also participated in clinical outreach visits as part of the East Timor Eye Program.

Committee associations

Alex is a member of the International Association for Research in Vision and Ophthalmology, a Fellow of the Royal Australian and New Zealand College of Ophthalmology as well as an International member of the American Academy of Ophthalmology and a member of the Human Genetics Society of Australasia.

Other

In 2012 Alex joined the editorial board of Ophthalmic Genetics as the 'genetic association studies' section editor and in 2014 joined the editorial board of Clinical and Experimental Ophthalmology as the 'genetics' section editor. He has reviewed for over twenty international journals, including the New England Journal of MedicineNature GeneticsPLoS One, FEBS, International Journal of EpidemiologyHuman GeneticsInvest Ophthalmol Vis SciAmerican Journal of Ophthalmology, and Ophthalmology.

Research Invitations

Alex has presented at over 50 National and International meetings, and was invited to speak at the XX International Society for Eye Research meeting in 2012; the 2013 Association for Research in Vision and Ophthalmology annual meeting; and the 5th World Glaucoma Congress in 2013. He has also received numerous awards for scientific presentations (see Research tab).

View more on Dr Alex Hewitt in WARP

Awards

  • Alcon Research Institute Young Investigator Award, Alcon Research Institute, 2012.
  • East Timor Eye Program / Eye Foundation Scholarship, RANZCO Eye Foundation & Hobart Eye Surgeons, 2012.
  • Peter Doherty - Australian Biomedical Fellowship, National Health and Medical Research Council, 2012.
  • Western Australian Young Tall Poppy Award, Australian Institute of Policy & Science, 2012.
  • Sayer Lecture Travel Award, NIH/National Eye Institute, 2012.

Collaboration

Alex has been actively involved with several research projects including the Glaucoma Inheritance Study in Tasmania, the Norfolk Island Eye Study, the Twins Eye Study, the Australian and New Zealand Registry of Advanced Glaucoma, and is a part of the analytical team of the retinal working group from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium; the global Consortium for Refractive Error and Myopia (CREAM) and the International Glaucoma Genetics Consortium (IGGC). Additionally, Alex has recently established research molecular projects in Uganda, Nepal and Indonesia.

Fields of Research

  • Ophthalmology (111301)
  • Vision Science (111303)
  • Cellular Nervous System (110902)
  • Cell Development, Proliferation and Death (060103)
  • Quantitative Genetics (incl. Disease and Trait Mapping Genetics) (060412)
  • Neurology and Neuromuscular Diseases (110904)
  • Health Promotion (111712)
  • Cardiology (incl. Cardiovascular Diseases) (110201)
  • Law and Society (180119)
  • Health and Community Services (111708)
  • Medical Genetics (excl. Cancer Genetics) (110311)
  • Molecular Medicine (030405)
  • Health Economics (140208)
  • Surgery (110323)
  • Regenerative Medicine (incl. Stem Cells and Tissue Engineering) (100404)
  • Central Nervous System (110903)
  • Optometry and Ophthalmology (111399)
  • Bioethics (human and animal) (220101)
  • Sensory Systems (110906)
  • Preventive Medicine (111716)
  • Autonomic Nervous System (110901)
  • Cancer Genetics (111203)
  • Genomics (060408)
  • Paediatrics (111403)
  • Clinical Sciences (110399)
  • Public Health and Health Services (111799)
  • Medical and Health Sciences (119999)
  • Medical Ethics (220106)
  • Aboriginal and Torres Strait Islander Health (111701)
  • Animal Immunology (060804)

Research Objectives

  • Hearing, Vision, Speech and Their Disorders (920107)
  • Inherited Diseases (incl. Gene Therapy) (920110)
  • Neurodegenerative Disorders Related to Ageing (920112)
  • Nervous System and Disorders (920111)
  • Public Health (excl. Specific Population Health) (920499)
  • Cardiovascular System and Diseases (920103)
  • Diabetes (920104)
  • Skin and Related Disorders (920117)
  • Health (929999)
  • Bioethics (950401)
  • Rural Health (920506)
  • Flora, Fauna and Biodiversity at Regional or Larger Scales (960805)
  • Health Policy Evaluation (920208)
  • Health and Support Services (920299)
  • Social Structure and Health (920413)
  • Cancer and Related Disorders (920102)
  • Disability and Functional Capacity (920403)
  • Evaluation of Health Outcomes (920204)

Publications

Total publications

232

Journal Article

(228 outputs)
YearCitationAltmetrics
2017Aung T, 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]

Co-authors: Burdon KP

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2017Crombie DE, Curl CL, Raaijmakers AJ, Sivakumaran P, Kulkarni T, et al., 'Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency', Aging, 9, (5) pp. 1440-1452. ISSN 1945-4589 (2017) [Refereed Article]

DOI: 10.18632/aging.101247 [eCite] [Details]

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2017Daniszewski M, Crombie DE, Henderson R, Liang HH, Wong RCB, et al., 'Automated Cell Culture Systems and Their Applications to Human Pluripotent Stem Cell Studies', SLAS Technology pp. 1-11. ISSN 2472-6303 (2017) [Refereed Article]

DOI: 10.1177/2472630317712220 [eCite] [Details]

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2017Hewitt AW, Januar V, Sexton-Oates A, Joo JE, Franchina M, et al., 'DNA methylation landscape of ocular tissue relative to matched peripheral blood', Scientific Reports, 7 Article 46330. ISSN 2045-2322 (2017) [Refereed Article]

DOI: 10.1038/srep46330 [eCite] [Details]

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2017Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, et al., 'Rare and low-frequency coding variants alter human adult height', Nature, 542, (7640) pp. 186-190. ISSN 0028-0836 (2017) [Refereed Article]

DOI: 10.1038/nature21039 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

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2017Sanfilippo PG, Hewitt AW, Mackey DA, 'The Importance of Conditional Probability in Diagnostic Reasoning and Clinical Decision Making: A Primer for the Eye Care Practitioner', Ophthalmic Epidemiology, 24, (2) pp. 81-89. ISSN 0928-6586 (2017) [Refereed Article]

DOI: 10.1080/09286586.2016.1255975 [eCite] [Details]

Co-authors: 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]

Co-authors: Mackey DA; Burdon KP

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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 - 1Web of Science - 1

Co-authors: Burdon KP; Mackey DA

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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: Burdon KP

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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]

Co-authors: Burdon KP

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2017Cuellar-Partida G, Williams KM, Yazar S, Guggenheim JA, Hewitt AW, et al., 'Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study', International Journal of Epidemiology pp. 1-9. ISSN 0300-5771 (2017) [Refereed Article]

DOI: 10.1093/ije/dyx068 [eCite] [Details]

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2016Mackey DA, Kearns LS, Hewitt AW, 'Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?', Asia-Pacific Journal of Ophthalmology, 5, (4) pp. 253-255. ISSN 2162-0989 (2016) [Refereed Article]

DOI: 10.1097/APO.0000000000000220 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Mackey DA

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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 - 3Web of Science - 3

Co-authors: Burdon KP; Mackey DA

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2016De Smit E, O'Sullivan E, Mackey DA, Hewitt AW, 'Giant cell arteritis: ophthalmic manifestations of a systemic disease', Graefe's Archive for Clinical and Experimental Ophthalmology, 254, (12) pp. 2291-2306. ISSN 0721-832X (2016) [Refereed Article]

DOI: 10.1007/s00417-016-3434-7 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

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2016Fan Q, Verhoeven VJM, Wojciechowski R, Barathi VA, Hysi PG, et al., 'Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error', Nature Communications, 7 Article 11008. ISSN 2041-1723 (2016) [Refereed Article]

DOI: 10.1038/ncomms11008 [eCite] [Details]

Citations: Scopus - 6Web of Science - 3

Co-authors: Mackey DA

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2016Gill KP, Hung SSC, Sharov A, Lo CY, Needham K, et al., 'Enriched retinal ganglion cells derived from human embryonic stem cells', Scientific Reports, 6 Article 30552. ISSN 2045-2322 (2016) [Refereed Article]

DOI: 10.1038/srep30552 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Cook AL

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2016Grassmann F, Cantsilieris S, Schulz-Kuhnt AS, White SJ, Richardson AJ, et al., 'Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)', Journal of Neuroinflammation, 13 Article 81. ISSN 1742-2094 (2016) [Refereed Article]

DOI: 10.1186/s12974-016-0548-0 [eCite] [Details]

Citations: Scopus - 5

Co-authors: Vote BJ

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2016Hernandez D, Millard R, Sivakumaran P, Wong RCB, Crombie DE, et al., 'Electrical Stimulation Promotes Cardiac Differentiation of Human Induced Pluripotent Stem Cells', Stem Cells International Article 1718041. ISSN 1687-966X (2016) [Refereed Article]

DOI: 10.1155/2016/1718041 [eCite] [Details]

Citations: Scopus - 6Web of Science - 2

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2016Hewitt AW, Cook AL, Pebay A, 'Peeking into the molecular trove of discarded surgical specimens', Clinical and Experimental Ophthalmology, 44, (8) pp. 661-662. ISSN 1442-6404 (2016) [Letter or Note in Journal]

DOI: 10.1111/ceo.12837 [eCite] [Details]

Co-authors: Cook AL

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2016Hung SSC, Chrysostomou V, Li F, Lim JKH, Wang J-H, et al., 'AAV-Mediated CRISPR/Cas Gene Editing of Retinal Cells In Vivo', Investigative Ophthalmology & Visual Science (Online), 57, (7) pp. 3470-3476. ISSN 1552-5783 (2016) [Refereed Article]

DOI: 10.1167/iovs.16-19316 [eCite] [Details]

Citations: Scopus - 9Web of Science - 7

Co-authors: King AE

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2016Hung SSC, McCaughey T, Swann O, Pebay A, Hewitt AW, 'Genome engineering in ophthalmology: Application of CRISPR/Cas to the treatment of eye disease', Progress in Retinal and Eye Research, 53 pp. 1-20. ISSN 1350-9462 (2016) [Refereed Article]

DOI: 10.1016/j.preteyeres.2016.05.001 [eCite] [Details]

Citations: Scopus - 5Web of Science - 3

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2016Hung SSC, Van Bergen NJ, Jackson S, Liang H, Mackey DA, et al., 'Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells', Aging, 8, (5) pp. 1-13. ISSN 1945-4589 (2016) [Refereed Article]

DOI: 10.18632/aging.100950 [eCite] [Details]

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2016Johnston T, Chandra A, Hewitt AW, 'Current understanding of the genetic architecture of rhegmatogenous retinal detachment', Ophthalmic Genetics, 37, (2) pp. 121-129. ISSN 1381-6810 (2016) [Refereed Article]

DOI: 10.3109/13816810.2015.1033557 [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 - 6Web of Science - 6

Co-authors: Burdon KP

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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 - 12Web of Science - 13

Co-authors: Burdon KP

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2016Lester S, Hewitt AW, Ruediger CD, Bradbury L, De Smit E, et al., 'PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis', RMD Open, 2, (1) Article e000246. ISSN 2056-5933 (2016) [Refereed Article]

DOI: 10.1136/rmdopen-2016-000246 [eCite] [Details]

Citations: Scopus - 2

Co-authors: Jones G

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2016Lidgerwood GE, Lim SY, Crombie DE, Ali R, Gill KP, et al., 'Defined medium conditions for the induction and expansion of human pluripotent stem cell-derived retinal pigment epithelium', Stem Cell Reviews and Reports, 12, (2) pp. 179-188. ISSN 1550-8943 (2016) [Refereed Article]

DOI: 10.1007/s12015-015-9636-2 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Ali R

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2016De Smit E, Kearns LS, Clarke L, Dick J, Hill CL, et al., 'Heterogeneity of Human Research Ethics Committees and Research Governance Offices across Australia: An observational study', Australasian Medical Journal, 9, (2) pp. 33-39. ISSN 1836-1935 (2016) [Refereed Article]

DOI: 10.4066/AMJ.2015.2587 [eCite] [Details]

Citations: Web of Science - 1

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2016McCaughey T, Chen CY, De Smit E, Rees G, Fenwick E, et al., 'Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking', Cell and tissue banking, 17, (3) pp. 449-56. ISSN 1389-9333 (2016) [Refereed Article]

DOI: 10.1007/s10561-016-9563-8 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Mackey DA; Cook AL

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2016McCaughey T, Liang HH, Chen C, Fenwick E, Rees G, et al., 'An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell Research', Cell Stem Cell, 18, (3) pp. 307-308. ISSN 1934-5909 (2016) [Letter or Note in Journal]

DOI: 10.1016/j.stem.2016.02.006 [eCite] [Details]

Citations: Scopus - 3

Co-authors: Vickers JC; Summers MJ

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2016McCaughey T, Sanfilippo PG, Gooden GEC, Budden DM, Li F, et al., 'A Global Social Media Survey of Attitudes to Human Genome Editing', Cell Stem Cell, 18, (5) pp. 569-572. ISSN 1934-5909 (2016) [Refereed Article]

DOI: 10.1016/j.stem.2016.04.011 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Si L

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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 - 5Web of Science - 5

Co-authors: Burdon KP

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2016Nicol D, Bubela T, Chalmers D, Charbonneau J, Critchley C, et al., 'Precision medicine: drowning in a regulatory soup?', Journal of Law and the Biosciences, 3, (2) pp. 281-303. ISSN 2053-9711 (2016) [Refereed Article]

DOI: 10.1093/jlb/lsw018 [eCite] [Details]

Citations: Web of Science - 4

Co-authors: Nicol D; Chalmers D; Charbonneau J; Dickinson J; McWhirter R; Otlowski M

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2016Oliver VF, Van Bysterveldt KA, Cadzow M, Steger B, Romano V, et al., 'A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions', Ophthalmology, 123, (4) pp. 709-722. ISSN 0161-6420 (2016) [Refereed Article]

DOI: 10.1016/j.ophtha.2015.12.008 [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

Co-authors: Mackey DA

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2016Sanfilippo PG, Chu BS, Bigault O, Kearns LS, Boon MY, et al., 'Response: Cycloplegia in refraction: age and cycloplegics', Acta Ophthalmologica, 94, (5) pp. e373. ISSN 1755-375X (2016) [Letter or Note in Journal]

DOI: 10.1111/aos.13082 [eCite] [Details]

Co-authors: Mackey DA

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2016Sanfilippo PG, Huynh E, Yazar S, Hewitt AW, Mackey DA, 'Spectral-Domain Optical Coherence Tomography-Derived Characteristics of Bruch Membrane Opening in a Young Adult Australian Population', American Journal of Ophthalmology, 165 pp. 154-163. ISSN 0002-9394 (2016) [Refereed Article]

DOI: 10.1016/j.ajo.2016.03.008 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: 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 - 2Web of Science - 2

Co-authors: Burdon KP

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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 - 5Web of Science - 4

Co-authors: Burdon KP; 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]

Co-authors: Burdon KP; Mackey DA; Otlowski M

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2016Yazar S, Hewitt AW, Forward H, Jacques A, Ing C, et al., 'Early anesthesia exposure and the effect on visual acuity, refractive error, and retinal nerve fiber layer thickness of young adults', The Journal of Pediatrics, 169 pp. 256-259.e1. ISSN 0022-3476 (2016) [Refereed Article]

DOI: 10.1016/j.jpeds.2015.10.048 [eCite] [Details]

Citations: Scopus - 1

Co-authors: Mackey DA

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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]

Co-authors: Burdon KP

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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 - 28Web of Science - 28

Co-authors: Burdon KP; Mackey DA

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2016Dansingani KK, Perlee LT, Hamon S, Lee M, Shah VP, et al., 'Risk alleles associated with neovascularization in a pachychoroid phenotype', Ophthalmology, 123, (12) pp. 2628-2630. ISSN 0161-6420 (2016) [Refereed Article]

DOI: 10.1016/j.ophtha.2016.06.060 [eCite] [Details]

Citations: Scopus - 3Web of Science - 2

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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 - 12Web of Science - 14

Co-authors: Burdon KP

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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 - 19Web of Science - 17

Co-authors: Burdon KP

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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 - 12Web of Science - 8

Co-authors: Burdon KP

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2015Cuellar-Partida G, Lu Y, Kho PF, Hewitt AW, Wichmann HE, et al., 'Assessing the genetic predisposition of education on myopia: a Mendelian randomization study', Genetic Epidemiology, 40, (1) pp. 66-72. ISSN 0741-0395 (2015) [Refereed Article]

DOI: 10.1002/gepi.21936 [eCite] [Details]

Citations: Scopus - 7Web of Science - 8

Co-authors: Mackey DA

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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 - 3Web of Science - 2

Co-authors: Lucas SEM; Burdon KP

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2015Farr RJ, Januszewski AS, Joglekar MV, Liang H, McAulley AK, et al., 'A comparative analysis of high-throughput platforms for validation of a circulating microRNA signature in diabetic retinopathy', Scientific Reports, 5 Article 10375. ISSN 2045-2322 (2015) [Refereed Article]

DOI: 10.1038/srep10375 [eCite] [Details]

Citations: Scopus - 12

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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: Scopus - 53Web of Science - 72

Co-authors: Burdon KP; Vote BJ; Mackey DA

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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 - 3Web of Science - 4

Co-authors: Burdon KP; Mackey DA

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2015Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, et al., 'Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4', OncoTarget, 7, (4) pp. 4624-31. ISSN 1949-2553 (2015) [Refereed Article]

DOI: 10.18632/oncotarget.6614 [eCite] [Details]

Citations: Scopus - 17Web of Science - 17

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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 - 4Web of Science - 1

Co-authors: Burdon KP

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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 - 20Web of Science - 21

Co-authors: Burdon K; Mackey DA

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2015McAuley AK, Dirani M, Wang JJ, Connell PP, Lamoureux EL, et al., 'A genetic variant regulating miR-126 is associated with sight threatening diabetic retinopathy', Diabetes and Vascular Disease Research, 12, (2) pp. 133-138. ISSN 1479-1641 (2015) [Refereed Article]

DOI: 10.1177/1479164114560160 [eCite] [Details]

Citations: Scopus - 12Web of Science - 8

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2015Ashworth Briggs EL, Toh TY, Eri RD, Hewitt A, Cook AL, 'TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients', Molecular Vision, 21 pp. 1162-1172. ISSN 1090-0535 (2015) [Refereed Article]

[eCite] [Details]

Co-authors: Ashworth Briggs EL; Eri RD; Cook AL

2015Meier MH, Gillespie NA, Hansell NK, Hewitt AW, Hickie IB, et al., 'Retinal microvessels reflect familial vulnerability to psychotic symptoms: A comparison of twins discordant for psychotic symptoms and controls', Schizophrenia Research, 164, (1-3) pp. 47-52. ISSN 0920-9964 (2015) [Refereed Article]

DOI: 10.1016/j.schres.2015.01.045 [eCite] [Details]

Citations: Scopus - 3Web of Science - 2

Co-authors: Mackey DA

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2015Miyake M, Yamashiro K, Tabara Y, Suda K, Morooka S, et al., 'Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia', Nature Communications, 6 Article 6689. ISSN 2041-1723 (2015) [Refereed Article]

DOI: 10.1038/ncomms7689 [eCite] [Details]

Citations: Scopus - 13

Co-authors: Mackey DA

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2015Qing L, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJM, et al., 'Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium', Human Genetics, 134, (2) pp. 131-146. ISSN 0340-6717 (2015) [Refereed Article]

DOI: 10.1007/s00439-014-1500-y [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

Co-authors: Mackey DA

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2015Sanfilippo PG, Casson RJ, Yazar S, Mackey DA, Hewitt AW, 'Review of null hypothesis significance testing in the ophthalmic literature: are most 'significant' P values false positives?', Clinical and Experimental Ophthalmology, 44, (1) pp. 52-61. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12570 [eCite] [Details]

Co-authors: Mackey DA

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2015Sanfilippo PG, Kearns LS, Wright P, Mackey DA, Hewitt AW, 'Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: A review', Clinical and Experimental Ophthalmology, 43, (6) pp. 578-590. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12508 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Mackey DA

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2015Sanfilippo PG, Wilkinson CH, Ruddle JB, Zhu G, Martin NG, et al., 'Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins', Clinical and Experimental Optometry, 98, (2) pp. 172-176. ISSN 0816-4622 (2015) [Refereed Article]

DOI: 10.1111/cxo.12209 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Mackey DA

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2015Sanfilippo PG, Yazar S, Kearns L, Sherwin JC, Hewitt AW, et al., 'Distribution of astigmatism as a function of age in an Australian population', Acta Ophthalmologica, 93, (5) pp. e377-e385. ISSN 1755-375X (2015) [Refereed Article]

DOI: 10.1111/aos.12644 [eCite] [Details]

Citations: Scopus - 1

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 - 3Web of Science - 3

Co-authors: Mackey DA; Burdon KP

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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 - 13Web of Science - 13

Co-authors: Burdon KP; 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 - 16Web of Science - 17

Co-authors: Burdon KP; Mackey DA

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2015Staffieri SE, Rose L, Chang A, De Roach JN, Mclaren TL, et al., 'Clinical and molecular characterization of females affected by X-linked retinoschisis', Clinical and Experimental Ophthalmology, 43, (7) pp. 643-647. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12541 [eCite] [Details]

Citations: Scopus - 1Web of Science - 1

Co-authors: Mackey DA

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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 - 7Web of Science - 5

Co-authors: Burdon KP

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2015Yazar S, Cuellar-Partida G, McKnight CM, Quach-Thanissorn P, Mountain JA, et al., 'Genetic and environmental factors in conjunctival UV autofluorescence', JAMA Ophthalmology, 133, (4) pp. 406-412. ISSN 2168-6165 (2015) [Refereed Article]

DOI: 10.1001/jamaophthalmol.2014.5627 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Mackey DA

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2015Zhang Y, Sivakumaran P, Newcomb AE, Hernandez D, Harris N, et al., 'Cardiac Repair With a Novel Population of Mesenchymal Stem Cells Resident in the Human Heart', Stem Cell, 33, (10) pp. 3100-3113. ISSN 1945-4570 (2015) [Refereed Article]

DOI: 10.1002/stem.2101 [eCite] [Details]

Citations: Scopus - 11Web of Science - 11

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2015McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, et al., 'Pterygium and conjunctival ultraviolet autofluorescence in young Australian adults: the Raine study', Clinical and Experimental Ophthalmology, 43, (4) pp. 300-307. ISSN 1442-6404 (2015) [Refereed Article]

DOI: 10.1111/ceo.12455 [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

Co-authors: Mackey DA

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2014Abell RG, Hewitt AW, Andric M, Allen PL, Verma N, 'The use of heterochromatic flicker photometry to determine macular pigment optical density in a healthy Australian population', Graefe's Archive for Clinical and Experimental Ophthalmology, 252, (3) pp. 417-421. ISSN 1435-702X (2014) [Refereed Article]

DOI: 10.1007/s00417-013-2554-6 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Allen PL

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2014Baker ML, Painter G, Hewitt AW, Amirul Islam FM, Szetu J, et al., 'Profile of ocular trauma in the Solomon Islands', Clinical and Experimental Ophthalmology, 42, (5) pp. 440-446. ISSN 1442-6404 (2014) [Refereed Article]

DOI: 10.1111/ceo.12256 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

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2014Chroscinski D, Sampey D, Hewitt A, 'Registered report: Melanoma genome sequencing reveals frequent PREX2 mutations', E-life, 3 Article e04180. ISSN 2045-5267 (2014) [Refereed Article]

DOI: 10.7554/eLife.04180 [eCite] [Details]

Citations: Scopus - 1

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2014Cremin K, Leo P, Harris JE, De Smit E, Bradbury L, et al., 'Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritis', Genes and Immunity, 15, (5) pp. 338-340. ISSN 1466-4879 (2014) [Refereed Article]

DOI: 10.1038/gene.2014.19 [eCite] [Details]

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2014De Smit E, Palmer AJ, Hewitt AW, 'Projected worldwide disease burden from giant cell arteritis by 2050', Journal of Rheumatology, 42, (1) pp. 119-125. ISSN 1499-2752 (2014) [Refereed Article]

DOI: 10.3899/jrheum.140318 [eCite] [Details]

Citations: Scopus - 11Web of Science - 11

Co-authors: Palmer AJ

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2014Dunstan E, Lester S, Rischmueller M, Chan H, Hewitt AW, et al., 'TLR4 polymorphism is not associated with biopsy proven giant cell arteritis', Clinical and Experimental Rheumatology, 32, (Suppl. 82) pp. S26-S29. ISSN 0392-856X (2014) [Refereed Article]

[eCite] [Details]

2014Forward H, Yazar S, Hewitt AW, Khan J, Mountain JA, et al., 'Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial', Ultrasound in Obstetrics and Gynecology, 44, (2) pp. 166-170. ISSN 0960-7692 (2014) [Refereed Article]

DOI: 10.1002/uog.13399 [eCite] [Details]

Citations: Web of Science - 2

Co-authors: Mackey DA

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2014Franchina M, Yazar S, Booth L, Wan SL, Cox K, et al., 'Swimming goggle wear is not associated with an increased prevalence of glaucoma', BJO Online pp. 1-3. ISSN 1468-2079 (2014) [Refereed Article]

DOI: 10.1136/bjophthalmol-2014-305498 [eCite] [Details]

Citations: Scopus - 3

Co-authors: Mackey DA

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2014Franchina M, Yazar S, Hunter M, Gajdatsy A, deSousa JL, et al., 'Myopia and skin cancer are inversely correlated: results of the Busselton Healthy Ageing Study', Medical Journal of Australia, 200, (9) pp. 521-522. ISSN 0025-729X (2014) [Letter or Note in Journal]

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Co-authors: Mackey DA

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 - 37Web of Science - 40

Co-authors: Burdon KP; Mackey DA

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2014Gill KP, Hewitt AW, Davidson KC, Pebay A, Wong RCB, 'Methods of Retinal Ganglion Cell Differentiation From Pluripotent Stem Cells', Translational Vision Science & Technology, 3, (3) Article 7. ISSN 2164-2591 (2014) [Refereed Article]

DOI: 10.1167/tvst.3.3.7 [eCite] [Details]

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2014Hewitt AW, Mackey DA, 'Research: Keep PubMed running at all costs', Nature: International Weekly Journal of Science, 502, (7471) pp. 303. ISSN 0028-0836 (2014) [Letter or Note in Journal]

DOI: 10.1038/502303e [eCite] [Details]

Co-authors: 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 - 51

Co-authors: Burdon KP; 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 - 5Web of Science - 3

Co-authors: Burdon KP

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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 - 9Web of Science - 9

Co-authors: Burdon KP

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2014Mackey DA, Hewitt AW, 'Genome-wide association study success in ophthalmology', Current Opinion in Ophthalmology, 25, (5) pp. 386-393. ISSN 1040-8738 (2014) [Refereed Article]

DOI: 10.1097/ICU.0000000000000090 [eCite] [Details]

Citations: Scopus - 10Web of Science - 12

Co-authors: Mackey DA

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2014McAuley AK, Sanfilippo PG, Hewitt AW, Liang H, Lamoureux E, et al., 'Vitreous biomarkers in diabetic retinopathy: a systematic review and meta-analysis', Journal of Diabetes and Its Complications, 28, (3) pp. 419-425. ISSN 1056-8727 (2014) [Refereed Article]

DOI: 10.1016/j.jdiacomp.2013.09.010 [eCite] [Details]

Citations: Scopus - 10Web of Science - 11

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2014McAuley AK, Wang JJ, Dirani M, Connell PP, Lamoureux E, et al., 'Replication of genetic loci implicated in diabetic retinopathy', Investigative Ophthalmology and Visual Science (Iovs), 55, (3) pp. 1666-1671. ISSN 0146-0404 (2014) [Refereed Article]

DOI: 10.1167/iovs.13-13559 [eCite] [Details]

Citations: Scopus - 12Web of Science - 9

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2014McCarthy NS, Melton PE, Cadby G, Yazar S, Franchina M, et al., 'Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns', BMC Genomics, 15 Article 981. ISSN 1471-2164 (2014) [Refereed Article]

DOI: 10.1186/1471-2164-15-981 [eCite] [Details]

Citations: Scopus - 14

Co-authors: Mackey DA

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2014McKnight CM, Sherwin JC, Yazar S, Forward H, Tan AX, et al., 'Myopia in Young Adults Is Inversely Related to an Objective Marker of Ocular Sun Exposure: The Western Australian Raine Cohort Study', American Journal of Ophthalmology, 158, (5) pp. 1079-1085.e2. ISSN 0002-9394 (2014) [Refereed Article]

DOI: 10.1016/j.ajo.2014.07.033 [eCite] [Details]

Citations: Scopus - 15Web of Science - 15

Co-authors: Mackey DA

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2014Meier MH, Gillespie NA, Hansell NK, Hewitt AW, Hickie IB, et al., 'Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adults', Psychosomatic Medicine, 76, (9) pp. 732-738. ISSN 0033-3174 (2014) [Refereed Article]

DOI: 10.1097/PSY.0000000000000117 [eCite] [Details]

Citations: Scopus - 6Web of Science - 5

Co-authors: Mackey DA

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2014Sanfilippo PG, Chu B-S, Bigault O, Kearns LS, Boon M-Y, et al., 'What is the appropriate age cut-off for cycloplegia in refraction?', Acta Ophthalmologica, 92, (6) pp. e458-e462. ISSN 1755-375X (2014) [Refereed Article]

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

Citations: Scopus - 11Web of Science - 11

Co-authors: Mackey DA

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2014Sanfilippo PG, Hewitt AW, 'Translating the ENCyclopedia Of DNA Elements Project findings to the clinic: ENCODE's implications for eye disease', Clinical and Experimental Ophthalmology, 42, (1) pp. 78-83. ISSN 1442-6404 (2014) [Refereed Article]

DOI: 10.1111/ceo.12150 [eCite] [Details]

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2014Sherwin JC, De Smit E, Hewitt AW, 'Giant-Cell Arteritis and Polymyalgia Rheumatica', New England Journal of Medicine, 371, (17) pp. 1652-1653. ISSN 0028-4793 (2014) [Letter or Note in Journal]

DOI: 10.1056/NEJMc1409206 [eCite] [Details]

Citations: Scopus - 1

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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 pp. 1-7. ISSN 2041-1723 (2014) [Refereed Article]

DOI: 10.1038/ncomms5883 [eCite] [Details]

Citations: Scopus - 28

Co-authors: Burdon KP; Mackey DA

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2014Yazar S, Gooden GEC, Mackey DA, Hewitt AW, 'Benchmarking undedicated cloud computing providers for analysis of genomic datasets', PLoS ONE, 9, (9) Article e108490. ISSN 1932-6203 (2014) [Refereed Article]

DOI: 10.1371/journal.pone.0108490 [eCite] [Details]

Citations: Scopus - 3Web of Science - 4

Co-authors: Mackey DA

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2014Yazar S, Hewitt AW, Black LJ, McKnight CM, Mountain JA, et al., 'Myopia is associated with lower vitamin D status in young adults', Investigative Ophthalmology and Visual Science (Iovs), 55, (7) pp. 4552-4559. ISSN 0146-0404 (2014) [Refereed Article]

DOI: 10.1167/iovs.14-14589 [eCite] [Details]

Citations: Scopus - 23Web of Science - 21

Co-authors: Oddy WH; Mackey DA

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2014Yazar S, Hewitt AW, Forward H, McKnight CM, Tan A, et al., 'Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors', Journal of Cataract and Refractive Surgery, 40, (3) pp. 441-449. ISSN 0886-3350 (2014) [Refereed Article]

DOI: 10.1016/j.jcrs.2013.07.055 [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

Co-authors: Mackey DA

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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 - 1

Co-authors: Burdon KP

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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 - 13Web of Science - 11

Co-authors: Burdon KP

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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 - 15Web of Science - 15

Co-authors: Burdon KP

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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 - 38Web of Science - 33

Co-authors: Burdon KP; Mackey DA

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2013De Roach JN, Mclaren TL, Paterson RL, O'Brien EC, Hoffmann L, et al., 'Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank', Clinical and Experimental Ophthalmology, 41, (5) pp. 476-483. ISSN 1442-6404 (2013) [Refereed Article]

DOI: 10.1111/ceo.12020 [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

Co-authors: Mackey DA

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2013Dunstan E, Lester S, Black R, Rischmueller M, Chan H, et al., 'No Association between FCγR3B Copy Number Variation and Susceptibility to Biopsy-Proven Giant Cell Arteritis', Arthritis, 2013 Article 514914. ISSN 2090-1992 (2013) [Refereed Article]

DOI: 10.1155/2013/514914 [eCite] [Details]

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2013Hewitt A, 'Corneal Genetics: Using Ancestry to Dissect Quantitative Traits for Complex Disease Discovery', Investigative Ophthalmology & Visual Science, 54, (4) pp. 2444. ISSN 1552-5783 (2013) [Letter or Note in Journal]

DOI: 10.1167/iovs.13-12029 [eCite] [Details]

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2013Hewitt AW, Yazar S, Franchina M, 'Explosion of ophthalmic collaborative research networks in Australia', Clinical and Experimental Ophthalmology, 41, (3) pp. 310-311. ISSN 1442-6404 (2013) [Letter or Note in Journal]

DOI: 10.1111/j.1442-9071.2012.02876.x [eCite] [Details]

Citations: Scopus - 1

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2013Holliday EG, Smith AV, Cornes BK, Buitendijk GHS, Jensen RA, et al., 'Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis', PLoS One, 8, (1) Article e53830. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0053830 [eCite] [Details]

Citations: Scopus - 53Web of Science - 48

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2013Jensen RA, Sim X, Li X, Cotch MF, Ikram MK, et al., 'Genome-wide association study of retinopathy in individuals without diabetes', PLoS One, 8, (2) Article e54232. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0054232 [eCite] [Details]

Citations: Scopus - 6Web of Science - 6

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2013Lopes MC, Hysi PG, Verhoeven VJM, Macgregor S, Hewitt AW, et al., 'Identification of a candidate gene for astigmatism', Investigative Ophthalmology and Visual Science (Iovs), 54, (2) pp. 1260-1267. ISSN 0146-0404 (2013) [Refereed Article]

DOI: 10.1167/iovs.12-10463 [eCite] [Details]

Citations: Scopus - 14Web of Science - 14

Co-authors: Mackey DA

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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 - 88Web of Science - 91

Co-authors: Burdon KP; Mackey DA

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2013Nag A, Venturini C, Hysi PG, Arno M, Aldecoa-Otalora Astarloa E, et al., 'Copy number variation at chromosome 5q21.2 is associated with intraocular pressure', Investigative Ophthalmology and Visual Science (Iovs), 54, (5) pp. 3607-3612. ISSN 0146-0404 (2013) [Refereed Article]

DOI: 10.1167/iovs.13-11952 [eCite] [Details]

Citations: Scopus - 6Web of Science - 5

Co-authors: Mackey DA

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2013Oliver VF, Franchina M, Jaffe AE, Branham KE, Othman M, et al., 'Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration', Cell Reports, 5, (6) pp. 1527-1535. ISSN 2211-1247 (2013) [Refereed Article]

DOI: 10.1016/j.celrep.2013.11.042 [eCite] [Details]

Citations: Scopus - 16Web of Science - 12

Co-authors: Vote BJ; Mackey DA

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2013Poulter JA, Al-Araimi M, Conte I, Van Genderen MM, Sheridan E, et al., 'Recessive mutations in SLC38a8 cause foveal hypoplasia and optic nerve misrouting without albinism', American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man, 93, (6) pp. 1143-1150. ISSN 0002-9297 (2013) [Refereed Article]

DOI: 10.1016/j.ajhg.2013.11.002 [eCite] [Details]

Citations: Scopus - 13Web of Science - 15

Co-authors: Mackey DA

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2013Sanfilippo PG, Hewitt AW, Mountain JA, Mackey DA, 'A geometric morphometric assessment of hand shape and comparison to the 2D:4D digit ratio as a marker of sexual dimorphism', Twin Research and Human Genetics, 16, (2) pp. 590-600. ISSN 1832-4274 (2013) [Refereed Article]

DOI: 10.1017/thg.2013.5 [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Mackey DA

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2013Sim X, Jensen RA, Ikram MK, Cotch MF, Li X, et al., 'Genetic loci for retinal arteriolar microcirculation', PLoS One, 8, (6) Article e65804. ISSN 1932-6203 (2013) [Refereed Article]

DOI: 10.1371/journal.pone.0065804 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

Co-authors: 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 - 15Web of Science - 13

Co-authors: Burdon KP; Mackey DA

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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 - 134Web of Science - 128

Co-authors: Burdon KP; Mackey DA

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2013Yazar S, Forward H, Mcknight CM, Tan A, Soloshenko A, et al., 'Raine eye health study: Design, methodology and baseline prevalence of ophthalmic disease in a birth-cohort study of young adults', Ophthalmic Genetics, 34, (4) pp. 199-208. ISSN 1381-6810 (2013) [Refereed Article]

DOI: 10.3109/13816810.2012.755632 [eCite] [Details]

Citations: Scopus - 12Web of Science - 8

Co-authors: Mackey DA

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2013Yazar S, Mishra A, Ang W, Kearns LS, Mountain JA, et al., 'Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association study', Molecular Vision, 19 pp. 1238-1246. ISSN 1090-0535 (2013) [Refereed Article]

PMID: 23761726 [eCite] [Details]

Citations: Scopus - 1

Co-authors: Mackey DA

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2012Wiggs JL, Hewitt AW, Fan BJ, Wang DY, Figueiredo Sena DR, et al., 'The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma', PLoS One, 7, (9) Article e45613. ISSN 1932-6203 (2012) [Refereed Article]

DOI: 10.1371/journal.pone.0045613 [eCite] [Details]

Citations: Scopus - 11Web of Science - 10

Co-authors: 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 - 5

Co-authors: Burdon KP

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2012Forward H, Hewitt AW, Mackey DA, 'Missing X and Y: A review of participant ages in population-based eye studies', Clinical and Experimental Ophthalmology, 40, (3) pp. 305-319. ISSN 1442-6404 (2012) [Refereed Article]

DOI: 10.1111/j.1442-9071.2011.02626.x [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Mackey DA

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2012Franchina M, Toniolo J, Mackey DA, Hewitt AW, 'Google-based search of common blinding diseases: a reflection of public concerns', British Journal of Ophthalmology, 96, (11) pp. 1444-1445. ISSN 0007-1161 (2012) [Letter or Note in Journal]

DOI: 10.1136/bjophthalmol-2012-302318 [eCite] [Details]

Co-authors: Mackey DA

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2012Hewitt AW, Wang JJ, Liang H, Craig JE, 'Epigenetic effects on eye diseases', Expert Review of Ophthalmology, 7, (2) pp. 127-134. ISSN 1746-9899 (2012) [Refereed Article]

DOI: 10.1586/eop.12.11 [eCite] [Details]

Citations: Scopus - 2

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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 - 11Web of Science - 12

Co-authors: Burdon KP

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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 - 33Web of Science - 29

Co-authors: Burdon KP

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2012Mackey DA, Warrington NM, Hewitt A, Oates SK, Yazar S, et al., 'Role of the TCF4 gene intronic variant in normal variation of corneal endothelium', Cornea, 31, (2) pp. 162-166. ISSN 0277-3740 (2012) [Refereed Article]

DOI: 10.1097/ICO.0b013e318226155f [eCite] [Details]

Citations: Scopus - 7Web of Science - 5

Co-authors: Mackey DA

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2012McAuley AK, Sanfilippo PG, Connell PP, Wang JJ, Dirani M, et al., 'Circulating biomarkers of diabetic retinopathy: a systematic review and meta-analysis', Diabetes Management, 2, (2) pp. 157-169. ISSN 1758-1907 (2012) [Refereed Article]

DOI: 10.2217/dmt.12.4 [eCite] [Details]

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2012Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, et al., 'Genetic variants near PDGFRA are associated with corneal curvature in Australians', Investigative Ophthalmology and Visual Science (Iovs), 53, (11) pp. 7131-7136. ISSN 0146-0404 (2012) [Refereed Article]

DOI: 10.1167/iovs.12-10489 [eCite] [Details]

Citations: Scopus - 11Web of Science - 9

Co-authors: Mackey DA

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2012Paterson RL, De Roach JN, McLaren TL, Hewitt AW, Hoffmann L, et al., 'Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa', Molecular Vision, 18 pp. 2043-2052. ISSN 1090-0535 (2012) [Refereed Article]

PMID: 22876132 [eCite] [Details]

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2012Sanfilippo PG, Hammond CJ, Staffieri SE, Kearns LS, Melissa Liew SH, et al., 'Heritability of strabismus: Genetic influence is specific to eso-deviation and independent of refractive error', Twin Research and Human Genetics, 15, (5) pp. 624-630. ISSN 1832-4274 (2012) [Refereed Article]

DOI: 10.1017/thg.2012.22 [eCite] [Details]

Citations: Scopus - 6Web of Science - 5

Co-authors: Mackey DA

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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 - 16Web of Science - 17

Co-authors: Burdon KP; Mackey DA

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2012Sherwin JC, Hewitt AE, McKnight CM, Griffiths LR, Coroneo MT, et al., 'Approach to evaluation the reliability and validity of conjunctival ultraviolet autofluorescence measurement', British Journal of Ophthalmology, 96, (9) pp. 1271. ISSN 0007-1161 (2012) [Letter or Note in Journal]

[eCite] [Details]

Co-authors: Mackey DA

2012Sherwin JC, Hewitt AW, Coroneo MT, Kearns LS, Griffiths LR, et al., 'The association between time spent outdoors and myopia using a novel biomarker of outdoor light exposure', Investigative Ophthalmology and Visual Science, 53, (8) pp. 4363-4370. ISSN 0146-0404 (2012) [Refereed Article]

DOI: 10.1167/iovs.11-8677 [eCite] [Details]

Citations: Scopus - 32Web of Science - 32

Co-authors: Mackey DA

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2012Sherwin JC, McKnight CM, Hewitt AW, Griffiths LR, Coroneo MT, et al., 'Reliability and validity of conjunctival ultraviolet autofluorescence measurement', British Journal of Ophthalmology, 96, (6) pp. 801-805. ISSN 0007-1161 (2012) [Refereed Article]

DOI: 10.1136/bjophthalmol-2011-301255 [eCite] [Details]

Citations: Scopus - 17Web of Science - 16

Co-authors: 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 - 25Web of Science - 23

Co-authors: Mackey DA; Burdon KP

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2012Van Koolwijk LME, Ramdas WD, Ikram MK, Jansonius NM, Pasutto F, et al., 'Common genetic determinants of intraocular pressure and primary open-angle Glaucoma', PL o S Genetics (Print), 8, (5) Article e1002611. ISSN 1553-7390 (2012) [Refereed Article]

DOI: 10.1371/journal.pgen.1002611 [eCite] [Details]

Citations: Scopus - 76Web of Science - 71

Co-authors: Mackey DA

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2012Verhoeven VJM, Hysi PG, Saw S, Vitart V, Mirshahi A, et al., 'Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium', Human Genetics, 131, (9) pp. 1467-1480. ISSN 1432-1203 (2012) [Refereed Article]

DOI: 10.1007/s00439-012-1176-0 [eCite] [Details]

Citations: Scopus - 36Web of Science - 30

Co-authors: Mackey DA

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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 - 9Web of Science - 12

Co-authors: Burdon KP; Mackey DA

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2012Young TK, Ruddle JB, Crock C, Hewitt AW, 'Influence of weather conditions on ophthalmic emergency presentations', Clinical and Experimental Ophthalmology, 40, (3) pp. 322-323. ISSN 1442-6404 (2012) [Letter or Note in Journal]

DOI: 10.1111/j.1442-9071.2011.02587.x [eCite] [Details]

Citations: Scopus - 2

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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 - 35Web of Science - 34

Co-authors: Burdon KP; Mackey DA

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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 - 27

Co-authors: Burdon KP

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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 - 49Web of Science - 47

Co-authors: Burdon KP

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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 - 179Web of Science - 176

Co-authors: Burdon KP; 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 - 9Web of Science - 5

Co-authors: Burdon KP

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2011Mackey DA, Hewitt AW, Ruddle JB, Vote B, Buttery RG, et al., 'Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family', Molecular Vision, 17 pp. 2118-2128. ISSN 1090-0535 (2011) [Refereed Article]

PMID: 21850187 [eCite] [Details]

Citations: Scopus - 2

Co-authors: Mackey DA

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2011Mackey DA, Sherwin JC, Kearns LS, Ma Y, Kelly J, et al., 'The Norfolk Island Eye Study (NIES): rationale, methodology and distribution of ocular biometry (Biometry of the Bounty)', Twin Research and Human Genetics, 14, (1) pp. 42-52. ISSN 1832-4274 (2011) [Refereed Article]

DOI: 10.1375/twin.14.1.42 [eCite] [Details]

Citations: Scopus - 7Web of Science - 6

Co-authors: Mackey DA

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2011Mackey DA, Wilkinson CH, Kearns LS, Hewitt AW, 'Classification of iris colour: review and refinement of a classification schema', Clinical and Experimental Ophthalmology, 39, (5) pp. 462-471. ISSN 1442-6404 (2011) [Refereed Article]

DOI: 10.1111/j.1442-9071.2010.02487.x [eCite] [Details]

Citations: Scopus - 14Web of Science - 12

Co-authors: 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 - 15

Co-authors: Burdon KP

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2011Sanfilippo PG, Medland SE, Hewitt AW, Kearns LS, Ruddle JB, et al., 'Ophthalmic Phenotypes and Representativeness of Twin Data for the General Population', Investigative Ophthalmology and Visual Science (Iovs), 52, (8) pp. 5565-5572. ISSN 0146-0404 (2011) [Refereed Article]

DOI: 10.1167/iovs.11-7258 [eCite] [Details]

Citations: Scopus - 9Web of Science - 10

Co-authors: Mackey DA

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2011Sherwin JC, Hewitt AW, Kearns LS, Coroneo MT, Griffiths LR, et al., 'Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study', Eye, 25, (7) pp. 893-900. ISSN 0950-222X (2011) [Refereed Article]

DOI: 10.1038/eye.2011.83 [eCite] [Details]

Citations: Scopus - 11Web of Science - 11

Co-authors: Mackey DA

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2011Sherwin JC, Hewitt AW, Kearns LS, Griffiths LR, Mackey DA, et al., 'The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study', Acta Ophthalmologica pp. 1-8. ISSN 1755-3768 (2011) [Refereed Article]

DOI: 10.1111/j.1755-3768.2011.02314.x [eCite] [Details]

Citations: Scopus - 20

Co-authors: Mackey DA

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2011Sherwin JC, Kearns LS, Hewitt AW, Ma Y, Kelly J, et al., 'Prevalence of chronic ocular diseases in a genetic isolate: The Norfolk Island Eye Study (NIES)', Ophthalmic Epidemiology, 18, (2) pp. 61-71. ISSN 0928-6586 (2011) [Refereed Article]

DOI: 10.3109/09286586.2010.545933 [eCite] [Details]

Citations: Scopus - 7Web of Science - 6

Co-authors: Mackey DA

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2011Sherwin JC, Kelly J, Hewitt AW, Kearns LS, Griffiths LR, et al., 'Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study', Clinical and Experimental Ophthalmology, 39, (8) pp. 734-742. ISSN 1442-6404 (2011) [Refereed Article]

DOI: 10.1111/j.1442-9071.2011.02579.x [eCite] [Details]

Citations: Scopus - 7Web of Science - 5

Co-authors: Mackey DA

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2011Thapa SS, Rana PP, Twayana SN, Shrestha MK, Paudel I, et al., 'Rationale, methods and baseline demographics of the Bhaktapur Glaucoma Study', Clinical and Experimental Ophthalmology, 39, (2) pp. 126-134. ISSN 1442-6404 (2011) [Refereed Article]

DOI: 10.1111/j.1442-9071.2010.02429.x [eCite] [Details]

Citations: Scopus - 9Web of Science - 10

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2011Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt A, et al., 'Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy', PL o S One, 6, (6) Article e21347. ISSN 1932-6203 (2011) [Refereed Article]

DOI: 10.1371/journal.pone.0021347 [eCite] [Details]

Citations: Scopus - 23Web of Science - 21

Co-authors: Mackey DA

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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 - 8

Co-authors: Mackey DA; Burdon KP

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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 - 7

Co-authors: Burdon KP; Mackey DA

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2010Charlesworth J, Kramer PL, Dyer T, Diego V, Samples JR, et al., 'The path to open-angle glaucoma gene discovery: Endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness', Investigative Ophthalmology and Visual Science, 51, (7) pp. 3509-3514. ISSN 0146-0404 (2010) [Refereed Article]

DOI: 10.1167/iovs.09-4786 [eCite] [Details]

Citations: Scopus - 44Web of Science - 42

Co-authors: Charlesworth J; Mackey DA

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2010Cohn AC, Turnbull C, Ruddle JB, Guymer RH, Kearns LS, et al., 'Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations', Eye, 25, (2) pp. 208-217. ISSN 0950-222X (2010) [Refereed Article]

DOI: 10.1038/eye.2010.180 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

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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: Burdon KP; 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 - 17Web of Science - 17

Co-authors: Mackey DA; Burdon KP

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2010Hewitt AW, Sanfilippo P, Ring M, Mackey DA, Craig JE, 'Mortality in primary open-angle glaucoma: two cupped discs and a funeral'', Eye, 24, (1) pp. 59-63. ISSN 0950-222X (2010) [Refereed Article]

DOI: 10.1038/eye.2009.37 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Ring M; Mackey DA

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2010Hewitt AW, Wu J, Green CM, Lai T, Kearns LS, et al., 'Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania', Acta Ophthalmologica, 88, (1) pp. 70-74. ISSN 1755-375X (2010) [Refereed Article]

DOI: 10.1111/j.1755-3768.2009.01786.x [eCite] [Details]

Citations: Scopus - 3Web of Science - 3

Co-authors: Mackey DA

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2010Hysi PG, Young TL, Mackey DA, Andrew T, Fernandez-Medarde A, et al., 'A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25', Nature Genetics, 42, (10) pp. 902-905. ISSN 1061-4036 (2010) [Refereed Article]

DOI: 10.1038/ng.664 [eCite] [Details]

Citations: Scopus - 123Web of Science - 112

Co-authors: Mackey DA

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2010Ikram MK, Xueling S, Jensen RA, Cotch MF, Hewitt AW, et al., 'Four novel loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo', PL o S Genetics, 6, (10) pp. 1-12. ISSN 1553-7390 (2010) [Refereed Article]

DOI: 10.1371/journal.pgen.1001184 [eCite] [Details]

Citations: Scopus - 70Web of Science - 65

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2010Kistos G, Petrou Z, Grigoriadou M, Samples JR, Hewitt AW, et al., 'Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece', Clinical Ophthalmology, 4, (1) pp. 171-178. ISSN 1177-5467 (2010) [Refereed Article]

[eCite] [Details]

Citations: Scopus - 1

Co-authors: Mackey DA

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 - 71Web of Science - 65

Co-authors: Burdon KP; Mackey DA

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2010Macgregor S, Hewitt AW, Hysi PG, Ruddle JB, Medland SE, et al., 'Genome-wide association identifies ATOH7 as a major gene determining human optic disc size', Human Molecular Genetics, 19, (13) pp. 2716-2724. ISSN 0964-6906 (2010) [Refereed Article]

DOI: 10.1093/hmg/ddq144 [eCite] [Details]

Citations: Scopus - 86Web of Science - 80

Co-authors: Mackey DA

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2010O'Neill EC, Danesh-Meyer HV, Kong GXY, Hewitt A, Coote MA, et al., 'Optic Disc Evaluation in Optic Neuropathies : The Optic Disc Assessment Project', Ophthalmology, 118, (5) pp. 964-970. ISSN 0161-6420 (2010) [Refereed Article]

DOI: 10.1016/j.ophtha.2010.09.002 [eCite] [Details]

Citations: Scopus - 11Web of Science - 10

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2010Sanfilippo PG, Cardini A, Sigal IA, Ruddle JB, Chua BE, et al., 'A geometric morphometric assessment of the optic cup in glaucoma', Experimental Eye Research, 91, (3) pp. 405-414. ISSN 0014-4835 (2010) [Refereed Article]

DOI: 10.1016/j.exer.2010.06.014 [eCite] [Details]

Citations: Scopus - 11Web of Science - 11

Co-authors: Mackey DA

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2010Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA, 'The heritability of ocular traits', Survey of Ophthalmology, 55, (6) pp. 561-583. ISSN 0039-6257 (2010) [Refereed Article]

DOI: 10.1016/j.survophthal.2010.07.003 [eCite] [Details]

Citations: Scopus - 51Web of Science - 48

Co-authors: Mackey DA

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2010Sun C, Ponsonby AL, Brown Shayne, Kearns LS, MacKinnon JR, et al., 'Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: The australian twins eye study', American Journal of Ophthalmology, 150, (6) pp. 909-916. ISSN 0002-9394 (2010) [Refereed Article]

DOI: 10.1016/j.ajo.2010.06.028 [eCite] [Details]

Citations: Scopus - 7Web of Science - 6

Co-authors: Ponsonby AL; Brown Shayne; Dwyer T; Mackey DA

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2010Tang L, Scheetz TE, Mackey DA, Hewitt A, Fingert JH, et al., 'Automated quantification of inherited phenotypes from color images: A twin study of the variability of optic nerve head shape', Investigative Ophthalmology and Visual Science (Iovs), 51, (11) pp. 5870-5877. ISSN 0146-0404 (2010) [Refereed Article]

DOI: 10.1167/iovs.10-5527 [eCite] [Details]

Citations: Scopus - 6Web of Science - 5

Co-authors: 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 - 195Web of Science - 179

Co-authors: Burdon KP; Mackey DA

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2010Xu J, Ishikawa H, Wollstein G, Bilonick RA, Kagemann L, et al., 'Automated volumetric evaluation of stereoscopic disc photography', Optics Express, 18, (11) pp. 11347-11359. ISSN 1094-4087 (2010) [Refereed Article]

DOI: 10.1364/OE.18.011347 [eCite] [Details]

Citations: Scopus - 3Web of Science - 2

Co-authors: Mackey DA

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2009Sun C, Zhu G, Wong TY, Hewitt A, Ruddle JB, et al., 'Quantitative genetic analysis of the retinal vascular caliber: The australian twins eye study', Hypertension, 54, (4) pp. 788-795. ISSN 0194-911X (2009) [Refereed Article]

DOI: 10.1161/HYPERTENSIONAHA.109.132902 [eCite] [Details]

Citations: Scopus - 21Web of Science - 18

Co-authors: Mackey DA

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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 - 104Web of Science - 89

Co-authors: Burdon KP

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2009Kakaday T, Hewitt AW, Voelcker NH, Craig JE, Li JSJ, 'Advances in telemetric continuous intraocular pressure assessment', British Journal of Ophthalmology, 93, (8) pp. 992-996. ISSN 0007-1161 (2009) [Refereed Article]

DOI: 10.1136/bjo.2008.144261 [eCite] [Details]

Citations: Scopus - 25Web of Science - 21

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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 - 25Web of Science - 27

Co-authors: Charlesworth JC; Mackey DA; Burdon KP

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2009Mackey DA, Mackinnon JR, Brown SA, Kearns LS, Ruddle JB, et al., 'Twins Eye Study in Tasmania (TEST): Rationale and methodology to recruit and examine twins', Twin Research and Human Genetics, 12, (5) pp. 441-454. ISSN 1832-4274 (2009) [Refereed Article]

DOI: 10.1375/twin.12.5.441 [eCite] [Details]

Citations: Scopus - 30Web of Science - 29

Co-authors: Mackey DA

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2009Medland SE, Duffy DL, Wright MJ, Geffen GM, Hay DA, et al., 'Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families', Neuropsychologia: An International Journal in Behavioural Neuroscience, 47, (2) pp. 330-337. ISSN 0028-3932 (2009) [Refereed Article]

DOI: 10.1016/j.neuropsychologia.2008.09.005 [eCite] [Details]

Citations: Scopus - 113Web of Science - 100

Co-authors: Mackey DA

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2009O'Neill E, Mackey DA, Connell PP, Hewitt A, Danesh-Meyer HV, et al., 'The optic nerve head in hereditary optic neuropathies', Nature Reviews Neurology, 5, (5) pp. 277-278. ISSN 1759-4758 (2009) [Refereed Article]

DOI: 10.1038/nrneurol.2009.40 [eCite] [Details]

Citations: Scopus - 14Web of Science - 14

Co-authors: Mackey DA

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2009Sanfilippo PG, Cardini A, Hewitt A, Crowston JG, Mackey DA, 'Optic disc morphology - Rethinking shape', Progress in Retinal and Eye Research, 28, (4) pp. 227-248. ISSN 1350-9462 (2009) [Refereed Article]

DOI: 10.1016/j.preteyeres.2009.05.004 [eCite] [Details]

Citations: Scopus - 30Web of Science - 27

Co-authors: 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 - 39Web of Science - 27

Co-authors: Burdon KP

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2009Sherwin JC, Hewitt A, Bennett SL, Baird PN, Craig JE, et al., 'Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype', Clinical and Experimental Ophthalmology, 37, (2) pp. 201-207. ISSN 1442-6404 (2009) [Refereed Article]

DOI: 10.1111/j.1442-9071.2009.02002.x [eCite] [Details]

Citations: Scopus - 4Web of Science - 2

Co-authors: Mackey DA

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2009Sun C, Ponsonby AL, Wong TY, Brown Shayne, Kearns LS, et al., 'Effect of birth parameters on retinal vascular caliber: the twins eye study in Tasmania', Hypertension, 53, (3) pp. 487-493. ISSN 0194-911X (2009) [Refereed Article]

DOI: 10.1161/HYPERTENSIONAHA.108.125914 [eCite] [Details]

Citations: Scopus - 28Web of Science - 28

Co-authors: Ponsonby AL; Brown Shayne; Cochrane JA; Mackey DA

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2009Hewitt AW, Chappell AJ, Staga T, Landers J, Mills RA, et al., 'Sensitivity of confocal laser tomography versus optical coherence tomography in detecting advanced glaucoma', Clinical and Experimental Ophthalmology, 37, (9) pp. 836-841. ISSN 1442-6404 (2009) [Refereed Article]

DOI: 10.1111/j.1442-9071 [eCite] [Details]

Citations: Scopus - 5Web of Science - 5

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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 - 29Web of Science - 25

Co-authors: Burdon KP

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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 - 37Web of Science - 30

Co-authors: Burdon KP; Charlesworth JC

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2008Cohn AC, Toomes C, Hewitt AW, Kearns LS, Inglehearn CF, et al., 'The natural history of OPA1-related autosomal dominant optic atrophy', British Journal of Ophthalmology, 92, (10) pp. 1333-1336. ISSN 0007-1161 (2008) [Refereed Article]

DOI: 10.1136/bjo.2007.134726 [eCite] [Details]

Citations: Scopus - 32Web of Science - 29

Co-authors: Mackey DA

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2008He M, Ge J, Wang D, Zhang J, Hewitt AW, et al., 'Heritability of the iridotrabecular angle width measured by optical coherence tomography in Chinese children: the Guangzhou twin eye study', Investigative Ophthalmology & Visual Science, 49, (4) pp. 1356-1361. ISSN 0146-0404 (2008) [Refereed Article]

DOI: 10.1167/iovs.07-1397 [eCite] [Details]

Citations: Scopus - 13Web of Science - 12

Co-authors: Mackey DA

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2008Hewitt AW, Mackey DA, Craig JE, 'Myocilin allele-specific glaucoma phenotype database', Human Mutation, 29, (2) pp. 207-211. ISSN 1059-7794 (2008) [Refereed Article]

DOI: 10.1002/humu.20634 [eCite] [Details]

Citations: Scopus - 53Web of Science - 50

Co-authors: Mackey DA

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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 - 23Web of Science - 19

Co-authors: Burdon KP; Mackey DA

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2008Mackey DA, Green CM, Craig JE, Hewitt A, 'The pathogenesis of the glaucoma: nature versus nurture', Clinical and Experimental Ophthalmology pp. 297. ISSN 1442-6404 (2008) [Letter or Note in Journal]

[eCite] [Details]

Co-authors: Mackey DA; Craig JE

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 - 57Web of Science - 50

Co-authors: Burdon KP

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2008Sherwin JA, Hewitt A, Ruddle JB, Mackey DA, 'Genetic isolates in ophthalmic diseases', Ophthalmic Genetics, 29, (4) pp. 149-161. ISSN 1381-6810 (2008) [Contribution to Refereed Journal]

DOI: 10.1080/13816810802334341 [eCite] [Details]

Citations: Scopus - 14

Co-authors: Mackey DA

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2008Zhu G, Hewitt AW, Ruddle JB, Kearns LS, Brown SA, et al., 'Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q', Ophthalmology, 115, (6) pp. 1053-1057. ISSN 0161-6420 (2008) [Refereed Article]

DOI: 10.1016/j.optha.2007.08.013 [eCite] [Details]

Citations: Scopus - 38Web of Science - 30

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 - 115Web of Science - 93

Co-authors: Burdon KP; Mackey DA

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2007Bennett SL, Hewitt A, Poulsen JL, Kearns LS, Morgan JE, et al., 'Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees', Archives of Ophthalmology, 125, (1) pp. 112-116. ISSN 0003-9950 (2007) [Refereed Article]

DOI: 10.1001/archopht.125.1.112 [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

Co-authors: Craig JE; Mackey DA

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2007Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, et al., 'Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations', American Journal of Ophthalmology, 143, (4) pp. 656-662. ISSN 0002-9394 (2007) [Refereed Article]

DOI: 10.1016/j.ajo.2006.12.038 [eCite] [Details]

Citations: Scopus - 59Web of Science - 56

Co-authors: Mackey DA

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2007Dimasi DP, Hewitt AW, Straga T, Pater J, MacKinnon JR, et al., 'Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma', Clinical Genetics, 72, (3) pp. 255-260. ISSN 0009-9163 (2007) [Refereed Article]

DOI: 10.1111/j.1399-0004.2007.00864.x [eCite] [Details]

Citations: Scopus - 29Web of Science - 27

Co-authors: Mackey DA

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2007Green CM, Kearns LS, Wu J, Barbour JM, Wilkinson RM, et al., 'How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania', Clinical and Experimental Ophthalmology, 35, (9) pp. 793-799. ISSN 1442-6404 (2007) [Refereed Article]

DOI: 10.1111/j.1442-9071.2007.01612.x [eCite] [Details]

Citations: Scopus - 48Web of Science - 45

Co-authors: Wu J; Wilkinson RM; Ring M; Craig JE; Mackey DA

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2007Hewitt AW, 'Genetic diseases of the optic nerve head: from embryogenesis to pathogenesis', Expert Review of Ophthalmology, 2, (5) pp. 769-777. ISSN 1746-9899 (2007) [Refereed Article]

DOI: 10.1586/17469899.2.5.769 [eCite] [Details]

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2007Hewitt AW, Bennett SL, Fingert JH, Cooper RL, Stone EM, et al., 'The optic nerve head in myocilin glaucoma', Investigative Ophthalmology & Visual Science, 48, (1) pp. 238-243. ISSN 0146-0404 (2007) [Refereed Article]

DOI: 10.1167/iovs.06-0611 [eCite] [Details]

Citations: Scopus - 13Web of Science - 12

Co-authors: Mackey DA

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2007Hewitt AW, Bennett SL, Richard JE, Dimasi DP, Booth AP, et al., 'Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals', Archives of Ophthalmology, 125, (1) pp. 98-104. ISSN 0003-9950 (2007) [Refereed Article]

DOI: 10.1001/archopht.125.1.98 [eCite] [Details]

Citations: Scopus - 9Web of Science - 7

Co-authors: Mackey DA

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2007Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, Heyningen VV, et al., 'PAX6 mutations may be associated with high myopia', Ophthalmic Genetics, 28, (3) pp. 179-182. ISSN 1381-6810 (2007) [Contribution to Refereed Journal]

DOI: 10.1080/13816810701356676 [eCite] [Details]

Citations: Scopus - 38

Co-authors: Mackey DA

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2007Hewitt AW, Poulsen JP, Alward WLM, Bennett SL, Budde WM, et al., 'Heritable features of the optic disc: a novel twin method for determining genetic significance', Investigative Ophthalmology & Visual Science, 48, (6) pp. 2469-2475. ISSN 0146-0404 (2007) [Refereed Article]

DOI: 10.1167/iovs.06-1470 [eCite] [Details]

Citations: Scopus - 15Web of Science - 15

Co-authors: Mackey DA

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2007Hewitt AW, Samples JR, Allingham RR, Jarvela I, Kitsos G, et al., 'Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds', Molecular Vision, 13, (50-51) pp. 487-492. ISSN 1090-0535 (2007) [Refereed Article]

PMID: 17417609 [eCite] [Details]

Citations: Scopus - 10Web of Science - 10

Co-authors: Mackey DA

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2006Craig JE, Hewitt AW, Dimasi DP, Howell N, Toomes C, et al., 'The role of the Met98Lys optineurin variant in inherited optic nerve diseases', British Journal of Ophthalmology, 90, (11) pp. 1420-1424. ISSN 0007-1161 (2006) [Refereed Article]

DOI: 10.1136/bjo.2006.099333 [eCite] [Details]

Citations: Scopus - 17Web of Science - 11

Co-authors: Mackey DA

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2006Hewitt AW, Bennett SL, Dimasi DP, Craig JE, Mackey DA, 'A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases', American Journal of Ophthalmology, 141, (2) pp. 402-403. ISSN 0002-9394 (2006) [Refereed Article]

DOI: 10.1016/j.ajo.2005.08.073 [eCite] [Details]

Citations: Scopus - 16Web of Science - 13

Co-authors: Mackey DA

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2006Hewitt AW, Cooper RL, 'Nosology and the glaucomas', Clinical and Experimental Ophthalmology, 34, (1) pp. 94. ISSN 1442-6404 (2006) [Letter or Note in Journal]

[eCite] [Details]

2006Hewitt AW, Craig JE, Mackey DA, 'Complex genetics of complex traits: the case of primary open-angle glaucoma', Clinical and Experimental Ophthalmology, 34, (5) pp. 472-484. ISSN 1442-6404 (2006) [Refereed Article]

DOI: 10.1111/j.1442-9071.2006.1268.x [eCite] [Details]

Citations: Scopus - 56Web of Science - 51

Co-authors: Mackey DA

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2006Hewitt AW, Dimasi DP, Mackey DA, Craig JE, 'A Glaucoma case-control study of the WDR36 gene D658G sequence variant', American Journal of Ophthalmology, 142, (2) pp. 324-325. ISSN 0002-9394 (2006) [Refereed Article]

DOI: 10.1016/j.ajo.2006.02.041 [eCite] [Details]

Citations: Scopus - 51Web of Science - 44

Co-authors: Mackey DA

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2006Hewitt AW, MacKinnon JR, Giubilato A, Elder JE, Craig JE, et al., 'Familial transmission risk of infantile glaucoma in Australia', Ophthalmic Genetics, 27, (3) pp. 93-97. ISSN 1381-6810 (2006) [Refereed Article]

DOI: 10.1080/13816810600870843 [eCite] [Details]

Citations: Scopus - 2Web of Science - 2

Co-authors: Mackey DA

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2006Hewitt AW, Traill A, Cooper RL, Morgan JE, Mackey DA, 'Tools for cup:disc ratio measurement. Letters to the Editor', Clinical and Experimental Ophthalmology, 34 pp. 288-289. ISSN 1442-6404 (2006) [Letter or Note in Journal]

[eCite] [Details]

Co-authors: Mackey DA

2006Wu J, Hewitt A, Green CM, Ring M, McCartney PJ, et al., 'Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma', Archives of Ophthalmology, 124, (7) pp. 950-954 . ISSN 0003-9950 (2006) [Refereed Article]

DOI: 10.1001/archopht.124.7.950 [eCite] [Details]

Citations: Scopus - 29Web of Science - 25

Co-authors: Ring M; McCartney PJ; Mackey DA

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2006Hewitt A, Jeganathan VS, Kidd JE, Pesudovs K, Verma N, 'Influence of photodynamic therapy for age related macular degeneration upon subjective vision related quality of life', Graefe'S Archive for Clinical and Experimental Ophthalmology, 244, (8) pp. 972-977. ISSN 0721-832X (2006) [Refereed Article]

DOI: 10.1007/s00417-005-0218-x [eCite] [Details]

Citations: Scopus - 15Web of Science - 11

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2005Dimasi DP, Hewitt AW, Green CM, Mackey DA, Craig JE, 'Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma', Journal of Medical Genetics, 42, (9) pp. e55-e58. ISSN 0022-2593 (2005) [Refereed Article]

DOI: 10.1136/jmg.2005.032458 [eCite] [Details]

Citations: Scopus - 19Web of Science - 16

Co-authors: 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: Burdon KP

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2005Hewitt AW, Cooper RL, 'Relationship between corneal thickness and optic disc damage in glaucoma', Clinical and Experimental Ophthalmology, 33, (2) pp. 158-163. ISSN 1442-6404 (2005) [Refereed Article]

DOI: 10.1111/j.1442-9071.2005.00971.x [eCite] [Details]

Citations: Scopus - 22Web of Science - 19

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2005Hewitt AW, Fitzgerald LM, Scotter LW, Mulhall LE, McKay JD, et al., 'Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia', Clinical and Experimental Ophthalmology, 33, (3) pp. 233-239. ISSN 1442-6404 (2005) [Refereed Article]

DOI: 10.1111/j.1442-9071.2005.01018.x [eCite] [Details]

Citations: Scopus - 19Web of Science - 17

Co-authors: Fitzgerald LM; McKay JD; Mackey DA

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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 - 19Web of Science - 19

Co-authors: McKay JD; Patterson B; Craig JE; Burdon KP; Mackey DA

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2005Toh TY, Liew SHM, MacKinnon JR, Hewitt AW, Poulsen JL, et al., 'Central Corneal Thickness Is Highly Heritable: The Twin Eye Studies', Investigative Ophthalmology & Visual Science, 46, (10) pp. 3718-3722. ISSN 0146-0404 (2005) [Refereed Article]

DOI: 10.1167/iovs.04-1497 [eCite] [Details]

Citations: Scopus - 87Web of Science - 84

Co-authors: Mackey DA

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2003Hewitt A, Flekser R, Harcourt D, Sinha SN, 'The evolution of a hospital based leg ulcer clinic', Primary Intention, 11, (2) pp. 75-85. ISSN 1323-2495 (2003) [Refereed Article]

[eCite] [Details]

Co-authors: Sinha SN

2002Hewitt A, Verma N, 'Posterior capsule opacification after cataract surgery in remote Australian Aboriginal patients', Clinical and Experimental Ophthalmology, 30, (4) pp. 248-251. ISSN 1442-6404 (2002) [Refereed Article]

DOI: 10.1046/j.1442-9071.2002.00531.x [eCite] [Details]

Citations: Scopus - 4Web of Science - 4

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2001Hewitt A, Verman N, Gruen R, 'Visual outcomes for remote Australian Aboriginal people after cataract surgery', Clinical and Experimental Ophthalmology, 29, (2) pp. 68-74. ISSN 1442-6404 (2001) [Refereed Article]

DOI: 10.1046/j.1442-9071.2001.00378.x [eCite] [Details]

Citations: Web of Science - 6

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Conference Publication

(4 outputs)
YearCitationAltmetrics
2014Cook AL, Ashworth Briggs EL, Toh T, Eri RD, Hewitt A, 'Defining conditions to direct human pluripotent stem cells towards the glaucoma-affected trabecular meshwork cell lineage', 2014 Australian Health and Medical Research Congress (AHMRC), 16-19 November, 2014, Melbourne, Australia (2014) [Conference Extract]

[eCite] [Details]

Co-authors: Cook AL; Ashworth Briggs EL; Eri RD

2014Keith LJ, Briggs ELA, Davidson KC, Wong RCB, Pebay A, et al., 'Defining conditions to direct human pluripotent stem cells towards the glaucoma-affected trabecular meshwork cell lineage', Narrowing the Gap Between Stem Cell Science and Cell Therapy, 9-11 November, 2014, Victoria, Australia (2014) [Conference Extract]

[eCite] [Details]

Co-authors: Keith LJ; Cook AL

2005Hewitt AW, Poulsen JP, Kearns LS, Mackey DA, 'A novel twin method for determining the significance of heritability of traits', Proceedings of the 5th Australasian Human Gene Mapping Conference Incorporating the 9th Australian Twin Registry Conference, 23-25 November 2005, Mt. Buller, Victoria (2005) [Conference Extract]

[eCite] [Details]

Co-authors: Mackey DA

2001Hewitt AW, Verma N, Gruen R, Walker JH, 'Follow-up of cataract surgery in remote people from the Top End of the Northern Territory', Good Health-Good Country from conception to completion, 4-7 March 2001, Canberra, ACT, pp. 1-10. ISBN 0 9577630 1 8 (2001) [Refereed Conference Paper]

[eCite] [Details]

Co-authors: Walker JH

Grants & Funding

Funding Summary

Number of grants

10

Total funding

$6,245,344

Projects

From Discovery to therapy in genetic eye diseases (2018)$2,500,000
Funding
National Health & Medical Research Council ($2,500,000)
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
Year
2018
Grant Reference
1116360
Investigating Batten disease-causing CLN3 mutations in patient-specific stem cells and neurons (2017)$24,898
Description
Batten disease is a rare childhood disease that results in dementia and a progressive loss of vision, and which can be due to mutation of the CLN3 gene. Using advances in stem cell technologies, we will study how the Batten disease-causing mutations in CLN3 differently affect nerve health.
Funding
Royal Hobart Hospital Research Foundation ($24,898)
Scheme
Grant-Establishment
Administered By
University of Tasmania
Research Team
Cook AL; Hewitt A; King AE; Ware T
Year
2017
Preclinical Development of Neuropeptide Y for the Treatment of Motor Neuron Disease (2017 - 2020)$936,575
Description
Motor Neuron Disease (MND) is a rapidly progressing neurodegenerative disease. There are no cures and no effective treatments for MND, with people diagnosed having a median survival of only three years from symptom onset. Not knowing the cause of MND or how it progresses through the CNS have been immense barriers to the development of effective therapeutics. We have reached a critical time in MND research. Our research team has been dedicated to researching the mechanism of MND for the last ten years. We are now poised to transition my teams research efforts from determining the cause of this disease to using this knowledge to develop treatments. A critical pathway that our work and others have shown is key to MND is altered network excitability and subsequent excitotoxicity in the cortex. We have recent published and preliminary data that identifies that a critical potential point of intervention in this pathway is via the subclass of inhibitory cells that express neuropeptide Y (NPY). The overarching Aim for this Cure for MND Translational Research Grant is to now target this pathway to develop a treatment. By performing this world-first preclinical trial we will reveal further aspects of disease pathogenesis. Positive outcomes from these trials will identify a candidate compounds for progression to a human trial for the treatment of MND.
Funding
The Cure for MND Foundation ($936,575)
Scheme
Grant-Translational Research Grant
Administered By
University of Tasmania
Research Team
Dickson TC; Blizzard C; Pebay A; Walker A; Blizzard CL; Rogers M; Hewitt A; Zosky GR
Period
2017 - 2020
Investigating the utility of retinal Base-Editing (2017)$25,000
Description
The CRISPR/Cas system, used by bacteria to counter viral intrusion, can edit DNA in specific sites. The application of this technology opens the very real prospect of anticipatory cures to well-defined inherited retinal diseases and we propose to expand the pre-clinical investigation of DNA editing of cells in the retina.
Funding
Royal Hobart Hospital Research Foundation ($25,000)
Scheme
Grant-Establishment
Administered By
University of Tasmania
Research Team
Hewitt A; Liu R; Cook AL
Year
2017
CRISPR screen to identify key genes driving DFTD (2017)$33,500
Description
We will apply leading genomic techniques to identify the genes essential for the proliferation of the Tasmanian Devil Facial Tumour. By systematically disrupting each gene in the cancer, we will also identify genes which help the tumour evade the immune system.
Funding
University of Tasmania Foundation Inc ($33,500)
Scheme
Grant-Dr Eric Guiler Tasmanian Devil Research Gran
Administered By
University of Tasmania
Research Team
Hewitt A; Liu G; Woods GM; Flies AS; Cook AL
Year
2017
Targeting at risk relatives of glaucoma patients for early diagnosis and treatment (TARRGET) (2017 - 2019)$789,722
Description
We will evaluate a family screening program for glaucoma. We will refer high risk close relatives of severely affected glaucoma patients to havean appropriate eye examination and genetic testing for glaucoma. Over the past 20 years Glaucoma Australia has been emphasising theimportance of a family history and the need for relatives to get tested. Early diagnosis and treatment prevents glaucoma blindness. Geneticsplays a major role in the risk for glaucoma and several genes of high and moderate risk have been identified but these account for 5% ofglaucoma cases at present. We provide genetic testing for glaucoma patients and relatives through the Australian and New Zealand Registry ofAdvanced Glaucoma (ANZRAG). Pending the discovery of the other glaucoma genes, the major genetics tool in identifying individuals with ahigh risk of glaucoma is a known family history of glaucoma.We propose a coordinated targeted family screening program for relatives of people with severe glaucoma. In city areas of Perth, Adelaide,Sydney, and Tasmania we will refer first degree relatives to their local eye care provider and monitor their uptake and outcomes of screeningexamination. In 16 rural and remote locations in Western Australia, we will examine the relatives ourselves using the facilities of the recentlylaunched Lions Outback Vision Van. We will evaluate the use of new optic nerve screening modalities for glaucoma using Retinal Nerve FibreAnalysis with OCT imaging.Our main outcome measure will be the prevalence of undiagnosed glaucoma in those who participate. Secondary measures include participationrates of index cases and participation rates in first degree relatives as well as a comparison of uptake in rural areas where the ophthalmicexamination will be provided at no charge in regional centres. Participants will also be invited to provide a blood sample for DNA testing formyocilin and cascade genetic screening in the future.
Funding
National Health & Medical Research Council ($595,373)
Scheme
Grant-Partnership Project
Administered By
University of Western Australia
Research Team
Mackey D; Craig J; Hewitt A; Goldberg I; Landers J
Period
2017 - 2019
Grant Reference
1132454
Using stem cells to understand glaucoma (2016)$50,000
Description
Glaucoma is the leading cause of irreversible blindness worldwide and there is currently no definitive treatment for this common disease. We have recently identified a number of genes associated with glaucoma, and we now seek to use this new genetic insight to test potentialdrug targets. This work will provide data that will lead directly to pre-clinical testing of FDAapproved drugs, and which may ultimately identify novel treatments for this devastating disease.
Funding
Ophthalmic Research Institute of Australia ($50,000)
Scheme
Grant-Research
Administered By
University of Tasmania
Research Team
Cook AL; Hewitt A
Year
2016
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
Molecular profiling to identify therapeutic targets for blinding diseases. (2016 - 2020)$467,960
Description
Understanding the precise molecular mechanisms leading to blinding disease will enable improved screening progams and the development of novel therapies. As an ophthalmologist with sub-speciality interest in inherited eye disease, I have established a world leading repository of fibroblast and iPSC lines from well-characterised patients who have either common, complex (glaucoma or age-related macular degeneration) or less common orphan (in particular retinal dysthrophies), blinding diseases. Since the completion of my clinical fellowship and PhD, my research output, both in terms of publications and awarded competitive grant funding, has been steadily increasing. I have co-authored over 150 peer-reviewed manuscripts and have also helped secure over $7 million in competitive research funding.Bridging the gap between laboratory research and patient care is an important aspect of my work. There are four broad research domains which I am actively leading. Each project builds upon firmly established collaborations and outlines a unique area of investigation, whereby the information gained will provide an important step in the transition from discovery to improved risk profiling or therapy. PROJECT 1 extends my gene discovery work through the application of genome-wide association studies. PROJECT 2 will capitalise on our internationally unique cohort of patient-specific cell lines to define the precise molecular pathways involved by studying the principal cells damaged in glaucoma and macular degeneration. PROJECT 3 combines the power of in vitro modelling of patient-specific stem cell derived cells with high fidelity gene correction to definitively define the precise molecular pathways involved in genetically defined retinal dystrophies. The final domain of research (PROJECT 4) will prospectively investigate whether retinal nerve profiles mirror changes in cognitive/brain reserve and the development of ageing-related decline, cognitive impairment or dementia.
Funding
National Health & Medical Research Council ($467,960)
Scheme
Fellowship-Practitioner
Administered By
University of Tasmania
Research Team
Hewitt A
Period
2016 - 2020
Grant Reference
APP1103329
Optimisation of CRISPR/Cas gene editing in the retina. (2016 - 2017)$72,634
Description
Investigate the efficacy of single Clustered Regularly Interspersed Short Palindromic Repeat (CRISPR) and CRISPR-associated (Cas) plasmids for gene editing in the retina.Validate our novel self-destructing CRISPR/Cas system and ensure, after initial activity, no functional CRISPR/Cas protein is produced.
Funding
Bayer Pharma AG ($72,634)
Scheme
Award-Global Ophthalmology Awards
Administered By
University of Tasmania
Research Team
Hewitt A; Cook AL
Period
2016 - 2017

Research Supervision

Current

5

Current

DegreeTitleCommenced
PhDTrabecular Meshwork Dysfunction in Glaucoma using Patient-specific iPS Cells2015
PhDUsing Pluripotent Stem Cells to Model AMD2015
PhDBioinformatics Methods to Improve Drug Discovery2015
PhDRetinal nerve Profile in Cognitive Decline and Dementia2015
PhDDissecting the Utility of Stem Cell Derived Tissue for Disease Modelling2015