Find Research Outputs

Search concepts
Selected filters
2018

GENOME-WIDE ASSOCIATION STUDY OF INTRAOCULAR PRESSURE IN 133,492 PEOPLE UNCOVERS NEW PATHWAYS TO GLAUCOMA AND IMPROVES DISEASE PREDICTION

Hewitt, A., MacGregor, S., Ong, J. S., An, J., Han, X., Zhou, T., Law, M., Souzeau, E., Burdon, K., Gharahkhani, P., Mackey, D. & Craig, J., Nov 2018, In : Clinical and Experimental Ophthalmology. 46, p. 37-37 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2017

FIVE NEW RISK LOCI FOR PRIMARY OPEN ANGLE GLAUCOMA IDENTIFIED USING A NOVEL METHOD: EXTREME PHENOTYPE AND QUANTITATIVE TRAIT LOCUS (EPAQ) MAPPING

Craig, J. E., Gharahkhani, P., Hewitt, A., Mackey, D., Souzeau, E., Landers, J., Graham, S., Zhou, T., Casson, R. & Macgregor, S., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 22-23 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

37 Citations (Scopus)
143 Downloads (Pure)

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

Springelkamp, H., Iglesias, A. I., Mishra, A., Höhn, R., Wojciechowski, R., Khawaja, A. P., Nag, A., Wang, Y. X., Wang, J. J., Cuellar-Partida, G., Gibson, J., Bailey, J. N. C., Vithana, E. N., Gharahkhani, P., Boutin, T., Ramdas, W. D., Zeller, T., Luben, R. N., Yonova-Doing, E., Viswanathan, A. C. & 63 othersYazar, S., Cree, A. J., Haines, J. L., Koh, J. Y., Souzeau, E., Wilson, J. F., Amin, N., Müller, C., Venturini, C., Kearns, L. S., Kang, J. H., Tham, Y. C., Zhou, T., Van Leeuwen, E. M., Nickels, S., Sanfilippo, P., Liao, J., van der Linde, H., Zhao, W., van Koolwijk, L. M. E., Zheng, L., Rivadeneira, F., Baskaran, M., Van Der Lee, S. J., Perera, S., de Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Fan, Q., Hofman, A., Tai, E-S., Vingerling, J. R., Sim, X., Wolfs, R. C. W., Teo, Y. Y., Lemij, H. G., Khor, C. C., Willemsen, R., Lackner, K. J., Aung, T., Jansonius, N. M., Montgomery, G. W., Wild, P. S., Young, T. L., Burdon, K. P., Hysi, P. G., Pasquale, L. R., Wong, T. Y., Klaver, C. C. W., Hewitt, A. W., Jonas, J. B., Mitchell, P., Lotery, A. J., Foster, P. J., Vitart, V., Pfeiffer, N., Craig, J. E., Mackey, D. A., Hammond, C. J., Wiggs, J. L., Cheng, C. Y., van Duijn, C. M. & MacGregor, S., 15 Jan 2017, In : Human Molecular Genetics. 26, 2, p. 438-453 16 p.

Research output: Contribution to journalArticle

Open Access
File
Optic Disk
Intraocular Pressure
Meta-Analysis
Primary Open Angle Glaucoma
Optic Nerve Diseases
2 Citations (Scopus)

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

Corbett, M. A., Turner, S. J., Gardner, A., Silver, J., Stankovich, J., Leventer, R. J., Derry, C. P., Carroll, R., Ha, T., Scheffer, I. E., Bahlo, M., Jackson, G. D., Mackey, D. A., Berkovic, S. F. & Gecz, J., Aug 2017, In : European Journal of Medical Genetics. 60, 8, p. 437-443 7 p.

Research output: Contribution to journalArticle

Open Access
Eye Abnormalities
Epilepsy
Exome
Genetic Databases
Encephalocele
2010
63 Citations (Scopus)

The Path to Open-Angle Glaucoma Gene Discovery: Endophenotypic Status of Intraocular Pressure, Cup-to-Disc Ratio, and Central Corneal Thickness

Charlesworth, J., Kramer, P. L., Dyer, T., Diego, V., Samples, J. R., Craig, J. E., Mackey, D., Hewitt, A. W., Blangero, J. & Wirtz, M. K., 2010, In : Investigative ophthalmology & visual science. 51, p. 3509-3514

Research output: Contribution to journalArticle

2014
12 Citations (Scopus)

Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts

Hysi, P. G., Mahroo, O. A. R., Cumberland, P. M., Wojciechowski, R., Williams, K. M., Young, T., Mackey, D., Rahi, J. S., Hammond, C. J. & Wiggs, J. L., 2014, In : JAMA Ophthalmology. 132, 1, p. 50-56

Research output: Contribution to journalArticle

Refractive Errors
Genome-Wide Association Study
Genes
Population
Genetic Association Studies
2011
16 Citations (Scopus)

Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye Study

Sherwin, JC., Hewitt, AW., Kearns, LS., Coroneo, MT., Griffiths, LR. & Mackey, D., 2011, In : Eye. 25, p. 893-900

Research output: Contribution to journalArticle

2015
71 Citations (Scopus)

Directional dominance on stature and cognition in diverse human populations

Joshi, P. K., Esko, T., Mattsson, H., Eklund, N., Gandin, I., Nutile, T., Jackson, A. U., Schurmann, C., Smith, A. V., Zhang, W., Okada, Y., Stančáková, A., Faul, J. D., Zhao, W., Bartz, T. M., Concas, M. P., Franceschini, N., Enroth, S., Vitart, V., Trompet, S. & 60 othersGuo, X., Chasman, D. I., O'Connel, J. R., Corre, T., Nongmaithem, S. S., Chen, Y., Mangino, M., Ruggiero, D., Traglia, M., Farmaki, A. E., Kacprowski, T., Bjonnes, A., Van Der Spek, A., Wu, Y., Giri, A. K., Yanek, L. R., Wang, L., Hofer, E., Rietveld, C. A., Mcleod, O., Cornelis, M. C., Pattaro, C., Verweij, N., Baumbach, C., Abdellaoui, A., Warren, H. R., Vuckovic, D., Mei, H., Bouchard, C., Perry, J. R. B., Cappellani, S., Mirza, S. S., Benton, M. C., Broeckel, U., Medland, S. E., Lind, P. A., Malerba, G., Drong, A., Yengo, L., Bielak, L. F., Zhi, D., Van Der Most, P. J., Shriner, D., Mägi, R., Hemani, G., Karaderi, T., Wang, Z., Liu, T., Demuth, I., Zhao, J. H., Meng, W., Lataniotis, L., Van Der Laan, S. W., Bradfield, J. P., Wood, A. R., Bonnefond, A., Ahluwalia, T. S., Hall, L. M., Yazar, S. & Mackey, D., 2015, In : Nature. 523, 7561, p. 459-462

Research output: Contribution to journalArticle

Genes
Lipoproteins
Cholesterol
Blood pressure
Public health
2016
3 Citations (Scopus)
160 Downloads (Pure)
Open Access
File
Refractive Errors
Nerve Fibers
Visual Acuity
Young Adult
Anesthesia
2010
101 Citations (Scopus)

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

Macgregor, S., Hewitt, A. W., Hysi, P. G., Ruddle, J. B., Medland, S. E., Henders, A. K., Gordon, S. D., Andrew, T., Mcevoy, B., Sanfilippo, P. G., Carbonaro, F., Tah, V., Li, Y. J., Bennett, S. L., Craig, J. E., Montgomery, G. W., Tran-Viet, K. N., Brown, N. L., Spector, T. D., Martin, N. G. & 3 othersYoung, T. L., Hammond, C. J. & Mackey, D., 2010, In : Human Molecular Genetics. 19, p. 2716-2724

Research output: Contribution to journalArticle

Open Access
81 Citations (Scopus)

The heritability of ocular traits

Sanfilippo, P. G., Hewitt, A. W., Hammond, C. J. & Mackey, D., 2010, In : Survey of Ophthalmology. 55, 6, p. 561-583

Research output: Contribution to journalArticle

2015
4 Citations (Scopus)

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

Souzeau, E., Hayes, M., Ruddle, J. B., Elder, J. E., Staffieri, S. E., Kearns, L. S., Mackey, D., Zhou, T., Ridge, B., Burdon, K. P., Dubowsky, A. & Craig, J. E., 11 Feb 2015, In : Molecular Vision. 21, p. 160-164 5 p., 160.

Research output: Contribution to journalArticle

Open Access
Glaucoma
Multiplex Polymerase Chain Reaction
New Zealand
Point Mutation
Registries
2019

Eye injury registries – A systematic review

Hoskin, A. K., Watson, S. L., Mackey, D. A., Agrawal, R. & Keay, L., 1 Nov 2019, In : Injury. 50, 11, p. 1839-1846 8 p.

Research output: Contribution to journalReview article

Eye Injuries
Registries
Wounds and Injuries
Costs and Cost Analysis
State Hospitals
2010
88 Citations (Scopus)

Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation In Vivo

Ikram, M. K., Xueling, S., Jensen, R. A., Cotch, M. F., Hewitt, A. W., Ikram, M. A., Wang, J. J., Klein, R., Klein, B. E. K., Breteler, M. M. B., Cheung, N., Liew, G., Mitchell, P., Uitterlinden, A. G., Rivadeneira, F., Hofman, A., De Jong, P. T. V. M., Van Duijn, C. M., Kao, L., Cheng, C. Y. & 37 othersSmith, A. V., Glazer, N. L., Lumley, T., Mcknight, B., Psaty, B. M., Jonasson, F., Eiriksdottir, G., Aspelund, T., Harris, T. B., Launer, L. J., Taylor, K. D., Li, X. H., Iyengar, S. K., Xi, Q. S., Sivakumaran, T. A., Mackey, D., Macgregor, S., Martin, N. G., Young, T. L., Bis, J. C., Wiggins, K. L., Heckbert, S. R., Hammond, C. J., Andrew, T., Fahy, S., Attia, J., Holliday, E. G., Scott, R. J., Islam, F. M. A., Rotter, J. I., Mcauley, A. K., Boerwinkle, E., Tai, E. S., Gudnason, V., Siscovick, D. S., Vingerling, J. R. & Wong, T. Y., 2010, In : PLoS Genetics. 6, p. -

Research output: Contribution to journalArticle

Open Access
2011
45 Citations (Scopus)

Autosomal Recessive Vitelliform Macular Dystrophy In a Large Cohort Of Vitelliform Macular Dystrophy Patients

Kinnick, TR., Mullins, RG., Dev, S., Leys, M., Mackey, D., Kay, CN., Lam, BL., Fishman, GA., Traboulsi, E., Iezzi, R. & Stone, EM., 2011, In : RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 31, 3, p. 581-595

Research output: Contribution to journalArticle

2012
32 Citations (Scopus)

Birth of a cohort - the first 20 years of the Raine study

Mcknight, C. M., Newnham, J., Stanley, F., Mountain, JA., Landau, L., Beilin, L., Puddey, I., Pennell, C. & Mackey, D., 2012, In : Medical Journal of Australia. 197, p. 608-610

Research output: Contribution to journalReview article

2016
12 Citations (Scopus)

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
Zebrafish
Mutation
Exome
Cornea
Morpholinos
2017
4 Citations (Scopus)

Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic

Nicol, D., Eckstein, L., Morrison, M., Sherkow, J. S., Otlowski, M., Whitton, T., Bubela, T., Burdon, K. P., Chalmers, D., Chan, S., Charlesworth, J., Critchley, C., Crossley, M., de Lacey, S., Dickinson, J. L., Hewitt, A. W., Kamens, J., Kato, K., Kleiderman, E., Kodama, S. & 6 othersLiddicoat, J., Mackey, D. A., Newson, A. J., Nielsen, J., Wagner, J. K. & McWhirter, R. E., 25 Sep 2017, In : Genome Medicine. 9, 1, 85.

Research output: Contribution to journalComment/debate

Open Access
Inborn Genetic Diseases
Research Ethics Committees
Cell- and Tissue-Based Therapy
Proteins
Therapeutics
2018
18 Citations (Scopus)

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

Hysi, P. G., Valdes, A. M., Liu, F., Furlotte, N. A., Evans, D. M., Bataille, V., Visconti, A., Hemani, G., McMahon, G., Ring, S. M., Smith, G. D., Duffy, D. L., Zhu, G., Gordon, S. D., Medland, S. E., Lin, B. D., Willemsen, G., Jan Hottenga, J., Vuckovic, D., Girotto, G. & 24 othersGandin, I., Sala, C., Concas, M. P., Brumat, M., Gasparini, P., Toniolo, D., Cocca, M., Robino, A., Yazar, S., Hewitt, A. W., Chen, Y., Zeng, C., Uitterlinden, A. G., Ikram, M. A., Hamer, M. A., Van Duijn, C. M., Nijsten, T., MacKey, D. A., Falchi, M., Boomsma, D. I., Martin, N. G., Hinds, D. A., Kayser, M. & Spector, T. D., 1 May 2018, In : Nature Genetics. 50, 5, p. 652-656 5 p.

Research output: Contribution to journalArticle

Open Access
Hair Color
Genome-Wide Association Study
Hair
Meta-Analysis
Melanins
2017
20 Citations (Scopus)

Drusen in patient-derived hiPSC-RPE models of macular dystrophies

Galloway, C. A., Dalvi, S., Hung, S. S. C., MacDonald, L. A., Latchney, L. R., Wong, R. C. B., Guymer, R. H., Mackey, D. A., Williams, D. S., Chung, M. M., Gamm, D. M., Pébay, A., Hewitt, A. W. & Singh, R., 26 Sep 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 39, p. E8214-E8223

Research output: Contribution to journalArticle

Open Access
Induced Pluripotent Stem Cells
Retinal Pigment Epithelium
Macular Degeneration
Extracellular Matrix
Pathology
2012
11 Citations (Scopus)

An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error

Abbott, D., Li, Y-J., Guggenheim, J. A., Metlapally, R., Malecaze, F., Calvas, P., Rosenberg, T., Paget, S., Zayats, T., Mackey, D., Feng, S. & Young, T. L., 2012, In : Molecular Vision. 18, p. 720-729

Research output: Contribution to journalArticle

2010
11 Citations (Scopus)

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness

Dimasi, D. P., Burdon, K. P., Hewitt, A. W., Savarirayan, R., Healey, P. R., Mitchell, P., Mackey, D. & Craig, J. E., 2010, In : Molecular Vision. 16, p. 562-569

Research output: Contribution to journalArticle

2017

REPEATABILITY AND NORMATIVE RANGE OF RETINAL CAPILLARY METRICS USING RTVUE XR AVANTI OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY

Sampson, D., Menghini, M., Gong, P., Hansen, A., Mackey, D., Constable, I., Sampson, D. & Chen, F., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 137-138 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2010
2 Citations (Scopus)

Primary open angle glaucoma due to T377M MYOC: Population mapping of a Greek founder mutation in Northwestern Greece

Kitsos, G., Petrou, Z., Grigoriadou, M., Samples, JR., Hewitt, AW., Kokotas, H., Giannoulia-Karantana, A., Mackey, D., Wirtz, MK., Moschou, M., Ioannidis, JP. & Petersen, MB., 2010, In : Clinical Ophthalmology. 4, p. 171-178

Research output: Contribution to journalArticle

2 Citations (Scopus)

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

2012
18 Citations (Scopus)

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development

Webb, T. R., Matarin, M., Gardner, J. C., Kelberman, D., Hassan, H., Ang, W., Michaelides, M., Ruddle, J. B., Pennell, C., Yazar, S., Khor, C. C., Aung, T., Yogarajah, M., Robson, A. G., Holder, G. E., Cheetham, M. E., Traboulsi, E. I., Moore, A. T., Sowden, J. C., Sisodiya, S. M. & 3 othersMackey, D., Tuft, S. J. & Hardcastle, A. J., 2012, In : American Journal of Human Genetics. 90, p. 247-259

Research output: Contribution to journalArticle

Open Access
2015
1 Citation (Scopus)

Do recycled spectacles meet the refractive needs of a developing country?

Wan, S., Yazar, S., Booth, L., Hiew, V., Hong, J., Tu, D., Ward, J., Gengatharen, S., Barbosa, L. X. & Mackey, D., 2015, In : Clinical and Experimental Optometry. 98, 2, p. 177-182

Research output: Contribution to journalArticle

Developing Countries
Prescriptions
Optometry
Recycling
Costs and Cost Analysis
2012
7 Citations (Scopus)

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

2017

INCIDENCE OF ABORIGINAL AND TORRES STRAIT ISLANDER EYE INJURIES REQUIRING HOSPITALISATION IN WESTERN AUSTRALIA

Bartnik, S., Crewe, J. & Mackey, D., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 97-98 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2012
11 Citations (Scopus)

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family

Ng, W., Pasutto, F., Bardakjian, T., Wilson, M., Watson, G., Schneider, A., Mackey, D., Grigg, J., Zenker, M. & Jamieson, R., 2012, In : Clinical Genetics. 83, p. 162-168

Research output: Contribution to journalArticle

2017
13 Citations (Scopus)

Genome-wide association shows that pigmentation genes play a role in skin aging

Law, M. H., Medland, S. E., Zhu, G., Yazar, S., Viñuela, A., Wallace, L., Shekar, S. N., Duffy, D. L., Bataille, V., Glass, D., Spector, T. D., Wood, D., MuTHER Consortium, Gordon, S. D., Barbour, J. M., Henders, A. K., Hewitt, A. W., Montgomery, G. W., Sturm, R. A., Mackey, D. A. & 3 othersGreen, A. C., Martin, N. G. & MacGregor, S., Sep 2017, In : Journal of Investigative Dermatology. 137, 9, p. 1887-1894

Research output: Contribution to journalArticle

Skin Aging
Skin
Genes
Genome
Alleles
2019

Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration

Int Age-Related Macular Degenerati, Sep 2019, In : Investigative ophthalmology & visual science. 60, 12, p. 4041-4051 11 p.

Research output: Contribution to journalArticle

Open Access
2017
2 Citations (Scopus)

Intersession test-retest variability of microperimetry in type 2 macular telangiectasia

Wong, E. N., De Soyza, J. D. A., Mackey, D. A., Constable, I. J. & Chen, F. K., 1 Nov 2017, In : Translational Vision Science and Technology. 6, 6, 7.

Research output: Contribution to journalArticle

Open Access
Telangiectasis
Scotoma
Confidence Intervals
Testing
Measurement errors
2013
19 Citations (Scopus)
Open Access
Cluster Analysis
Chronic Disease
Cognition
Cognitive Reserve
Acoustic Impedance Tests
2017
2 Citations (Scopus)
128 Downloads (Pure)

Fundus autofluorescence in rubella retinopathy: Correlation with photoreceptor structure and function

Bukowska, D. M., Wan, S. L., Chew, A. L., Chelva, E., Tang, I., Mackey, D. & Chen, F. K., Jan 2017, In : Retina. 37, 1, p. 124-134 11 p.

Research output: Contribution to journalArticle

Open Access
File
Rubella
Retinal Pigment Epithelium
Photography
Melanins
Optical Coherence Tomography
2019
2 Citations (Scopus)

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

Han, X., Souzeau, E., Ong, J-S., An, J., Siggs, O. M., Bunion, K. P., Best, S., Goldberg, I., Healey, P. R., Graham, S. L., Ruddle, J. B., Mills, R. A., Landers, J., Galanopoulos, A., White, A. J. R., Casson, R., Mackey, D. A., Hewitt, A. W., Gharahkhani, P., Craig, J. E. & 1 othersMacGregor, S., Jan 2019, In : JAMA Ophthalmology. 137, 1, p. 28-35 8 p.

Research output: Contribution to journalArticle

Open Access
2014
8 Citations (Scopus)

Comparison of monochromatic aberrations in young adults with different visual acuity and refractive errors

Yazar, S., Hewitt, A., Forward, H., Mcknight, C. M., Tan, A., Mountain, J. & Mackey, D., 2014, In : Journal of Cataract and Refractive Surgery. 40, 3, p. 441-449

Research output: Contribution to journalArticle

Refractive Errors
Visual Acuity
Young Adult
Lions
Mydriatics
2019

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (vol 9, 1864, 2018)

Blue Mountains Eye Study-GWAS Grp, NEIGHBORHOOD Consortium & Wellcome Trust Case Control, 8 Jan 2019, In : Nature Communications. 10, 3 p., 155.

Research output: Contribution to journalArticle

Open Access

Repurposing blue laser autofluorescence to measure ocular sun exposure

Lingham, G., Burton, A., Brown, H. A., Huynh, E., Yazar, S., Coroneo, M. T. & Mackey, D. A., May 2019, In : Clinical and Experimental Ophthalmology. p. 445-452 8 p.

Research output: Contribution to journalArticle

Solar System
Lasers
Ophthalmoscopes
Pterygium
Western Australia
1 Citation (Scopus)
Open Access
2018
2 Citations (Scopus)
Open Access
Retinal Vein
Retinal Vein Occlusion
Lasers
Randomized Controlled Trials
Macular Edema
2017
9 Citations (Scopus)
135 Downloads (Pure)

The genetic profile of Leber congenital amaurosis in an Australian cohort

Thompson, J. A., De Roach, J. N., McLaren, T. L., Montgomery, H. E., Hoffmann, L. H., Campbell, I. R., Chen, F. K., Mackey, D. A. & Lamey, T. M., 1 Nov 2017, In : Molecular genetics & genomic medicine. 5, 6, p. 652-667 16 p.

Research output: Contribution to journalArticle

Open Access
File
Leber Congenital Amaurosis
Retinal Dystrophies
Exome
Therapeutics
Retinal Diseases
2019

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways (vol 9, 4774, 2018)

Melanoma GWAS Consortium, 14 Jan 2019, In : Nature Communications. 10, 3 p., 299.

Research output: Contribution to journalComment/debate

Open Access
2016
4 Citations (Scopus)

Sports-related eye and adnexal injuries in the Western Australian paediatric population

Hoskin, A. K., Yardley, A. E. E., Hanman, K., Lam, G. & Mackey, D. A., Sep 2016, In : Acta Ophthalmologica. 94, 6, p. e407-e410

Research output: Contribution to journalArticle

Eye Injuries
Sports
Pediatrics
Football
Population
2017

IN PURSUIT OF GENE THERAPY TRIALS AND BETTER SIGHT FOR YOUNG MALES WITH LEBER'S HEREDITARY OPTIC NEUROPATHY (LHON)

Kearns, L. S., Staffieri, S. E., Ruddle, J. B., Hewitt, A. W. & Mackey, D., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 114-114 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2010
7 Citations (Scopus)

Automated Quantification of Inherited Phenotypes from Color Images: A Twin Study of the Variability of Optic Nerve Head Shape

Tang, L., Scheetz, T. E., Mackey, D., Hewitt, A. W., Fingert, J. H., Kwon, Y. H., Quellec, G., Reinhardt, J. M. & Abramoff, M. D., 2010, In : Investigative ophthalmology & visual science. 51, p. 5870-5877

Research output: Contribution to journalArticle

2019
9 Citations (Scopus)

Current state and future prospects of artificial intelligence in ophthalmology: a review

Hogarty, D. T., Mackey, D. A. & Hewitt, A. W., Jan 2019, In : Clinical and Experimental Ophthalmology. 47, 1, p. 128-139 12 p.

Research output: Contribution to journalReview article

Open Access
2018
1 Citation (Scopus)

Longitudinal expression profiling of CD4+ and CD8+ cells in patients with active to quiescent giant cell arteritis

De Smit, E., Lukowski, S. W., Anderson, L., Senabouth, A., Dauyey, K., Song, S., Wyse, B., Wheeler, L., Chen, C. Y., Cao, K., Wong Ten Yuen, A., Shuey, N., Clarke, L., Lopez Sanchez, I., Hung, S. S. C., Pébay, A., Mackey, D. A., Brown, M. A., Hewitt, A. W. & Powell, J. E., 23 Jul 2018, In : BMC Medical Genomics. 11, 1, 61.

Research output: Contribution to journalArticle

Open Access
Giant Cell Arteritis
Biomarkers
Phenotype
Transcriptome
Genes

The relationship between female reproductive factors and optic disc parameters in young female adults

Lee, S., Yazar, S., Pasquale, L. R., Sanfilippo, P., Hewitt, A. W., Hickey, M., Skinner, R. & Mackey, D., Jul 2018, In : Investigative ophthalmology & visual science. 59, 9, 3 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2015
2 Citations (Scopus)
138 Downloads (Pure)

Clinical and molecular characterization of females affected by X-linked retinoschisis

Staffieri, S. E., Rose, L., Chang, A., De Roach, J. N., Mclaren, T. L., Mackey, D., Hewitt, A. & Lamey, T. M., Sep 2015, In : Clinical and Experimental Ophthalmology. 43, 7, p. 643-647

Research output: Contribution to journalArticle

Open Access
File
Retinoschisis
Mutation
Retinal Diseases
DNA
Genes