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1993

Leber's hereditary optic neuropathy: The etiological role of a mutation in the mitochondrial cytochrome b gene

Howell, N., Kubacka, I., Halvorson, S. & Mackey, D., 1 Jan 1993, In : Genetics. 133, 1, p. 133-136 4 p.

Research output: Contribution to journalLetter

40 Citations (Scopus)
2013

Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus

Strange, A., Bellenguez, C., Sim, X., Luben, R., Hysi, P. G., Ramdas, W. D., Van Koolwijk, L. M. E., Freeman, C., Pirinen, M., Su, Z., Band, G., Pearson, R., Vukcevic, D., Langford, C., Deloukas, P., Hunt, S., Gray, E., Dronov, S., Potter, S. C., Tashakkori-Ghanbaria, A. & 36 others, Edkins, S., Bumpstead, S. J., Blackwell, J., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Duncanson, A., Jankowski, J. A. Z., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Wood, N. W., Barroso, I., Peltonen, L., Healey, P., Mcguffin, P., Topouzis, F., Klaver, C. C. W., Van Duijn, C. M., Mackey, D., Young, T. L., Hammond, C. J., Khaw, K-T., Wareham, N., Wang, J. J., Wong, T. Y., Foster, P. J., Mitchell, P., Spencer, C. C. A., Donnelly, P. & Viswanathan, A. C., 2013, In : Human Molecular Genetics. 22, 22, p. 4653-4660

Research output: Contribution to journalArticle

Open Access
22 Citations (Scopus)
2016

Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells

Hung, S. S. C., Van Bergen, N. J., Jackson, S., Liang, H., Mackey, D., Hernández, D., Lim, S. Y., Hewitt, A. W., Trounce, I., Pébay, A. & Wong, R. C. B., May 2016, In : Aging. 8, 5, p. 945-957

Research output: Contribution to journalArticle

Open Access
19 Citations (Scopus)

Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos

Gao, X., Nannini, D. R., Corrao, K., Torres, M., Chen, Y. D. I., Fan, B. J., Wiggs, J. L., Taylor, K. D., Gauderman, W. J., Rotter, J. I., Varma, R., Aung, T., Burdon, K. P., Cheng, C. Y., Craig, J. E., Cree, A. J., Gharahkhani, P., Hammond, C. J., Hewitt, A. W., Höhn, R. & 24 others, Hysi, P. G., Gonzalez, A. I. I., Jonas, J. B., Khawaja, A., Khor, C. C., Klaver, C. C. W., Pasutto, F., MacGregor, S., Mackey, D., Mitchell, P., Mishra, A., Pang, C., Pasquale, L. R., Springelkamp, H., Thorleifsson, G., Thorsteinsdottir, U., van Duijn, C. M., Viswanathan, A., Vitart, V., Wojciechowski, R., Wong, T. Y., Young, T. L., Zeller, T. & International Glaucoma Genetics Consortium, 15 Nov 2016, In : Human Molecular Genetics. 25, 22, p. 5035-5045 11 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)
2017

Genome-wide linkage and association analysis of primary open-angle glaucoma endophenotypes in the Norfolk Island isolate

Matovinovic, E., Kho, P. F., Lea, R. A., Benton, M. C., Eccles, D. A., Haupt, L. M., Hewitt, A. W., Sherwin, J. C., Mackey, D. A. & Griffiths, L. R., 28 Sep 2017, In : Molecular Vision. 23, p. 660-665 6 p.

Research output: Contribution to journalArticle

Open Access
2018
3 Citations (Scopus)
2003

Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

Baird, P. N., Craig, J. E., Richardson, A. J., Ring, M. A., Sim, P., Stanwix, S., Foote, S. J. & Mackey, D. A., 1 Feb 2003, In : Human Genetics. 112, 2, p. 110-116 7 p.

Research output: Contribution to journalArticle

33 Citations (Scopus)
2002

The apolipoprotein ε4 gene is associated with elevated risk of normal tension glaucoma

Vickers, J. C., Craig, J. E., Stankovich, J., McCormack, G. H., West, A. K., Dickinson, J. L., McCartney, P. J., Coote, M. A., Healey, D. L. & Mackey, D. A., 1 Dec 2002, In : Molecular Vision. 8, p. 389-393 5 p.

Research output: Contribution to journalArticle

75 Citations (Scopus)
2015

Occurrence of CYP1B1 mutations in juvenile open-angle glaucoma with advanced visual field loss

Souzeau, E., Hayes, M., Zhou, T., Siggs, O. M., Ridge, B., Awadalla, M. S., Smith, J. E. H., Ruddle, J. B., Elder, J. E., Mackey, D., Hewitt, A., Healey, P. R., Goldberg, I., Morgan, W., Landers, J., Dubowsky, A., Burdon, K. P. & Craig, J. E., Jul 2015, In : JAMA Ophthalmology. 133, 7, p. 826-833 8 p.

Research output: Contribution to journalArticle

Open Access
8 Citations (Scopus)
2006

A Glaucoma Case-control Study of the WDR36 Gene D658G Sequence Variant

Hewitt, A. W., Dimasi, D. P., Mackey, D. & Craig, J. E., 2006, In : American Journal of Ophthalmology. 142, 2, p. 324-325

Research output: Contribution to journalArticle

55 Citations (Scopus)
2007

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma

Dimasi, D. P., Hewitt, A. W., Straga, T., Pater, J., Mackinnon, J. R., Elder, J. E., Casey, T., Mackey, D. & Craig, J. E., 2007, In : Clinical Genetics. 72, 3, p. 255-260

Research output: Contribution to journalArticle

36 Citations (Scopus)
2008

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome

Sharma, S., Mcmellon, A. E., Mackey, D., Craig, J. E., Burdon, K. P., Hewitt, A. W., Wang, J. J. & Mitchell, P., 2008, In : Molecular Vision. 14, p. 1727-1736

Research output: Contribution to journalArticle

28 Citations (Scopus)
2006

A large GLC1C Greek family with a myocilin T377M mutation: Inheritance and phenotypic variability

Petersen, M. B., Kitsos, G., Samples, J. R., Gaudette, N. D., Economou-Petersen, E., Sykes, R., Rust, K., Grigoriadou, M., Aperis, G., Choi, D., Psilas, K., Craig, J. E., Kramer, P. L., Mackey, D. & Wirtz, M. K., 2006, In : Investigative Ophthalmology and Visual Science. 47, 2, p. 620-625

Research output: Contribution to journalArticle

16 Citations (Scopus)

Disease severity of familial glaucoma compared with sporadic glaucoma

Wu, J., Hewitt, A. W., Green, C. M., Ring, M. A., Mccartney, P. J., Craig, J. E. & Mackey, D., 2006, In : Archives of Ophthalmology. 124, 7, p. 950-954

Research output: Contribution to journalArticle

32 Citations (Scopus)
2011

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutation

Cohn, A. C., Turnbull, C., Ruddle, J. B., Guymer, R. H., Kearns, L. S., Staffieri, S., Daggett, H. T., Hewitt, A. W. & Mackey, D., 2011, In : Eye. PMID: 21109774, 26 November 2010, p. 208-217

Research output: Contribution to journalArticle

11 Citations (Scopus)
2010

Novel quantitative trait loci for central corneal thickness identiWed by candidate gene analysis of osteogenesis imperfecta genes

Dimasi, DP., Chen, JY., Hewitt, AW., Klebe, SK., Davey, R., Stirling, J., Thompson, E., Forbes, R., Tan, TY., Savarirayan, R., Mackey, D., Healey, PR., Mitchell, P., Burdon, KP. & Craig, JE., 2010, In : Human Genetics. 127, p. 33-34

Research output: Contribution to journalArticle

21 Citations (Scopus)
2012

Role of the TCF4 Gene Intronic Variant in Normal Variation of Corneal Endothelium

Mackey, D., Warrington, N., Hewitt, AW., Oates, SK., Yazar, S., Soloshenko, A., Crawford, G., Mountain, JA. & Pennell, C., 2012, In : Cornea. 31, 2, p. 162-166

Research output: Contribution to journalArticle

8 Citations (Scopus)

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

Sharma, S., Burdon, K. P., Chidlow, G., Klebe, S., Crawford, A., Dimasi, D. P., Dave, A., Martin, S., Javadiyan, S., Wood, J. P., Casson, R., Danoy, P., Griggs, K., Hewitt, A., Landers, J., Mitchell, P., Mackey, D. & Craig, J. E., 2012, In : Investigative ophthalmology & visual science. 53, 8, p. 4917-4925

Research output: Contribution to journalArticle

25 Citations (Scopus)
2001

Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension

Fingert, J. H., Clark, A. F., Craig, J. E., Alward, W. L. M., Snibson, G. R., McLaughlin, M., Tuttle, L., Mackey, D. A., Sheffield, V. C. & Stone, E. M., 30 Jan 2001, In : Investigative Ophthalmology and Visual Science. 42, 1, p. 145-152 8 p.

Research output: Contribution to journalArticle

96 Citations (Scopus)
1993

Finger prick blood testing in Leber hereditary optic neuropathy

Mackey, D., Nasioulas, S. & Forrest, S., 1 Jan 1993, In : British Journal of Ophthalmology. 77, 5, p. 311-312 2 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
2018

Does including colour-blind men enhance search and rescue teams?

Crewe, J. M., Brown, H., Fyfe, D. & Mackey, D. A., 1 Sep 2018, In : Clinical and Experimental Ophthalmology. 46, 7, p. 817-818 2 p.

Research output: Contribution to journalLetter

2019

Eye Injuries across history and the evolution of eye protection

Hoskin, A. K., Mackey, D. A., Keay, L., Agrawal, R. & Watson, S., 25 Mar 2019, In : Acta Ophthalmologica.

Research output: Contribution to journalArticle

3 Citations (Scopus)
1 Citation (Scopus)

Pterygium: Prevalence and Associations in Western Australian Adults

Mackey, D. A., Stevenson, L., Lingham, G., Burton, A., Brown, H., Huynh, E., Tan, I., Sanfilippo, P. & Yazar, S., Jul 2019, In : Investigative ophthalmology & visual science. 60, 9, 3 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2005

The Q368STOP myocilin mutation in a population-based cohort: The Blue Mountains Eye Study

Baird, P. N., Richardson, A. J., Craig, J. E., Rochtchina, E., Mackey, D. & Mitchell, P., 2005, In : American Journal of Ophthalmology. 139, 6, p. 1125-1126

Research output: Contribution to journalArticle

9 Citations (Scopus)
2008

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

Hewitt, A. W., Sharma, S., Burdon, K. P., Wang, J. J., Baird, P. N., Dimasi, D. P., Mackey, D., Mitchell, P. & Craig, J. E., 2008, In : Human Molecular Genetics. 17, 5, p. 710-716

Research output: Contribution to journalArticle

126 Citations (Scopus)
2005

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

Krafchak, C. M., Pawar, H., Moroi, S. E., Sugar, A., Lichter, P. R., Mackey, D., Mian, S., Nairus, T., Elner, V., Schteingart, M. T., Downs, C. A., Kijek, T. G., Johnson, J. M., Trager, E. H., Rozsa, F. W., Mandal, N. A., Epstein, M. P., Vollrath, D., Ayyagari, R., Boehnke, M. & 1 others, Richards, J. E., 2005, In : American Journal of Human Genetics. 77, 5, p. 694-708

Research output: Contribution to journalArticle

141 Citations (Scopus)
2007

How significant is a family history of glaucoma Experience from the glaucoma inheritance study in Tasmania

Green, C. M., Kearns, L. S., Wu, J., Barbour, J. M., Wilkinson, R. M., Ring, M. A., Craig, J. E., Wong, T. L., Hewitt, A. W. & Mackey, D., 2007, In : Clinical and Experimental Ophthalmology. 35, 9, p. 793-799

Research output: Contribution to journalArticle

52 Citations (Scopus)
2002

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa

Keen, T. J., Hims, M. M., McKie, A. B., Moore, A. T., Doran, R. M., Mackey, D. A., Mansfield, D. C., Mueller, R. F., Bhattacharya, S. S., Bird, A. C., Markham, A. F. & Inglehearn, C. F., 2 Jul 2002, In : European Journal of Human Genetics. 10, 4, p. 245-249 5 p.

Research output: Contribution to journalArticle

68 Citations (Scopus)
2007

No association between variations in the WDR36 gene and primary open-angle glaucoma [9]

Fingert, J. H., Alward, W. L. M., Kwon, Y. H., Shankar, S. P., Andorf, J. L., Mackey, D. A., Sheffield, V. C. & Stone, E. M., 1 Jan 2007, In : Archives of Ophthalmology. 125, 3, p. 434-436 3 p.

Research output: Contribution to journalLetter

51 Citations (Scopus)
2003

Pigmentary retinopathy, macular oedema, and abnormal ERG with mitotane treatment [2]

Ng, W. T., Toohey, M. G., Mulhall, L. & Mackey, D. A., 1 Apr 2003, In : British Journal of Ophthalmology. 87, 4, p. 500-501 2 p.

Research output: Contribution to journalLetter

2 Citations (Scopus)
2002

Retinopathy of prematurity: Recent advances in our understanding

Wheatley, C. M., Dickinson, J. L., Mackey, D. A., Craig, J. E. & Sale, M. M., 24 Jun 2002, In : British Journal of Ophthalmology. 86, 6, p. 696-700 5 p.

Research output: Contribution to journalReview article

81 Citations (Scopus)

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia

Fullerton, J., Paprocki, P., Foote, S., Mackey, D. A., Williamson, R. & Forrest, S., 1 May 2002, In : Human Genetics. 110, 5, p. 462-470 9 p.

Research output: Contribution to journalArticle

78 Citations (Scopus)

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus

Mackey, D. A., Chan, W. M., Chan, C., Gillies, W. E., Brooks, A. M. V., O'Day, J. & Engle, E. C., 1 May 2002, In : Human Genetics. 110, 5, p. 510-512 3 p.

Research output: Contribution to journalArticle

44 Citations (Scopus)
2016

A COL17A1 splice-altering mutation is prevalent in inherited recurrent corneal erosions

Oliver, V. F., Van Bysterveldt, K. A., Cadzow, M., Steger, B., Romano, V., Markie, D., Hewitt, A., Mackey, D., Willoughby, C. E., Sherwin, T., Crosier, P. S., Mcghee, C. N. & Vincent, A. L., Apr 2016, In : Ophthalmology. 123, 4, p. 709-722 14 p.

Research output: Contribution to journalArticle

Open Access
16 Citations (Scopus)
2019

The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy

Mackey, D. A. & Kearns, L. S., Aug 2019, In : Clinical and Experimental Ophthalmology. 47, 6, p. 704-705 2 p.

Research output: Contribution to journalEditorial

1 Citation (Scopus)

Whole exome sequencing and linkage analysis of extended pedigrees to identify glaucoma susceptibility genes

Graham, P., Peralta, J., Blackburn, N., Blangero, J., Wirtz, M., Hewitt, A., Mackey, D., Burdon, K. & Charlesworth, J., Oct 2019, In : European Journal of Human Genetics. 27, p. 1238-1239 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2020

“Eye genetics at the fork in the road” 2017 Franceschetti Lecture, Leeds UK

Mackey, D., 3 May 2020, (Accepted/In press) In : Ophthalmic Genetics.

Research output: Contribution to journalReview article

2005

Post-cycloplegia myopic shift in an older population

Toh, T., Kearns, L. S., Scotter, L. W. & Mackey, D., 2005, In : Ophthalmic Epidemiology. 12, 3, p. 215-219

Research output: Contribution to journalArticle

11 Citations (Scopus)
2007

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals

Hewitt, A. W., Bennett, S. L., Richards, J. E., Dimasi, D. P., Booth, A. P., Inglehearn, C., Anwar, R., Yamamoto, T., Fingert, J. H., Heon, E., Craig, J. E. & Mackey, D., 2007, In : Archives of Ophthalmology. 125, 1, p. 98-104

Research output: Contribution to journalArticle

10 Citations (Scopus)
2017

A genome-wide scan for microrna-related genetic variants associated with primary open-angle glaucoma

International Glaucoma Genetics Consortium (IGGC) & Mackey, D. A., 1 Oct 2017, In : Investigative Ophthalmology and Visual Science. 58, 12, p. 5368-5377 10 p.

Research output: Contribution to journalArticle

Open Access
6 Citations (Scopus)
1992

Leber hereditary optic neuropathy in Australia

Mackey, D. A. & Buttery, R. G., 1 Jan 1992, In : Australian and New Zealand Journal of Ophthalmology. 20, 3, p. 177-184 8 p.

Research output: Contribution to journalArticle

70 Citations (Scopus)
2018

119 loci influencing intraocular pressure provide new insight into primary open angle glaucoma susceptibility and age of onset.

Craig, J. E., Hewitt, A. W., Mackey, D., Graham, S. L., Healey, P. R., White, A. J. R., Landers, J., Casson, R., Souzeau, E., Burdon, K. P., Gharahkhani, P. & MacGregor, S., Jul 2018, In : Investigative ophthalmology & visual science. 59, 9, 3 p., 1177.

Research output: Contribution to journalAbstract/Meeting Abstract

1996

The 'GIST' score: Ranking glaucoma for genetic studies

Coote, M. A., McCartney, P. J., Wilkinson, R. M. & Mackey, D. A., 1 Dec 1996, In : Ophthalmic Genetics. 17, 4, p. 199-208 10 p.

Research output: Contribution to journalArticle

27 Citations (Scopus)
1993

Leber's hereditary optic neuropathy is it a disease of northern europe and asia?

Mackey, D. A., 1 Jan 1993, In : Ophthalmic Genetics. 14, 3, p. 105-107 3 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2002

Visual field assessment and the Austroads driving standard

McLean, I. M., Mueller, E., Buttery, R. G. & Mackey, D. A., 25 Mar 2002, In : Clinical and Experimental Ophthalmology. 30, 1, p. 3-7 5 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)
2019

A Glint or a Squint Should Make You Think! Improving Parent Knowledge of the Early Signs of Retinoblastoma: A Double-Blind Randomised Controlled Trial

Staffieri, S., Rees, G., Sanfilippo, P., Cole, S., Mackey, D. & Hewitt, A., Dec 2019, In : PEDIATRIC BLOOD & CANCER. 66, p. S387-S388 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2010

Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?

Kearns, L. S., Forrest, M., Cohn, A. C., Churchill, A. J. & Mackey, D., 2010, In : Ophthalmic Genetics. 31, p. 44-46

Research output: Contribution to journalArticle

2 Citations (Scopus)
2008

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa

Ivings, L., Towns, K. V., Matin, M. A., Taylor, C., Ponchel, F., Grainger, R. J., Ramesar, R. S., Mackey, D. & Inglehearn, C. F., 2008, In : Molecular Vision. 14, p. 2357-2366

Research output: Contribution to journalArticle

15 Citations (Scopus)