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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

10 Citations (Scopus)

Haplotype reference consortium panel: Practical implications of imputations with large reference panels

Iglesias, A. I., Van Der Lee, S. J., Bonnemaijer, P. W. M., Höhn, R., Nag, A., Gharahkhani, P., Khawaja, A. P., Broer, L., Foster, P. J., Hammond, C. J., Hysi, P. G., Van Leeuwen, E. M., MacGregor, S., Mackey, D. A., Mazur, J., Nickels, S., Uitterlinden, A. G., Klaver, C. C. W., Amin, N., van Duijn, C. M. & 1 othersInternational Glaucoma Genetics Consortium (IGGC), Aug 2017, In : Human Mutation. 38, 8, p. 1025-1032 8 p.

Research output: Contribution to journalArticle

Open Access
Haplotypes
Meta-Analysis
Genome
Genotype
Endophenotypes
40 Citations (Scopus)
158 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
2016
9 Citations (Scopus)
262 Downloads (Pure)

Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking

Mccaughey, T., Chen, C. Y., De Smit, E., Rees, G., Fenwick, E., Kearns, L. S., Mackey, D., Macgregor, C., Munsie, M., Cook, A. L., Pébay, A. & Hewitt, A., Sep 2016, In : Cell and Tissue Banking. 17, 3, p. 449-456

Research output: Contribution to journalArticle

Open Access
File
Induced Pluripotent Stem Cells
Stem cells
Informed Consent
Stem Cell Research
Stem Cells
2018
1 Citation (Scopus)

Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size

Fang Kho, P., Lea, R. A., Benton, M. C., Eccles, D., Haupt, L. M., Hewitt, A. W., Sherwin, J. C., Mackey, D. A. & Griffiths, L. R., 1 Jan 2018, In : Journal of Human Genetics. 63, 1, p. 83-87 5 p.

Research output: Contribution to journalArticle

Melanesia
Endophenotypes
Optic Disk
Glaucoma
Genes
2017
4 Citations (Scopus)
105 Downloads (Pure)

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

International Glaucoma Genetics Consortium, 1 Dec 2017, In : Nature Communications. 8, 1, 1755.

Research output: Contribution to journalArticle

Open Access
File
intraocular pressure
glaucoma
Intraocular Pressure
Glaucoma
magnetic permeability
5 Citations (Scopus)
146 Downloads (Pure)

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

Zhou, T., Souzeau, E., Sharma, S., Landers, J., Mills, R., Goldberg, I., Healey, P. R., Graham, S., Hewitt, A. W., Mackey, D. A., Galanopoulos, A., Casson, R. J., Ruddle, J. B., Ellis, J., Leo, P., Brown, M. A., MacGregor, S., Lynn, D. J., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In : PLoS One. 12, 3, e0172427.

Research output: Contribution to journalArticle

Open Access
File
Low Tension Glaucoma
Exome
unfolded protein response
Unfolded Protein Response
glaucoma
2016
3 Citations (Scopus)
Bayes Theorem
Research
Direction compound
2019
1 Citation (Scopus)

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

Eye Injuries
History
Wounds and Injuries
Workplace
Publications
2018

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

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
2019
12 Citations (Scopus)

IMI - Myopia Genetics Report

CREAM Consortium, Feb 2019, In : Investigative ophthalmology & visual science. 60, 3, p. M89-M105 17 p.

Research output: Contribution to journalArticle

Open Access

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

2017

A NOVEL METHOD OF MEASURING CONJUNCTIVAL ULTRAVIOLET AUTOFLUORESCENCE AREA

Lingham, G., Burton, A., Brown, H. A., Huynh, E., Coroneo, M. T., Yazar, S. & Mackey, D. A., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 63-63 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

8 Citations (Scopus)
166 Downloads (Pure)

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma leads to early identification of at-risk individuals

Souzeau, E., Tram, K. H., Witney, M., Ruddle, J. B., Graham, S. L., Healey, P. R., Goldberg, I., Mackey, D., Hewitt, A. W., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In : Ophthalmology. 124, 3, p. 303-309 7 p.

Research output: Contribution to journalArticle

Open Access
File
Genetic Testing
Glaucoma
Ocular Hypertension
Critical Pathways
trabecular meshwork-induced glucocorticoid response protein
2016

Response: Cycloplegia in refraction: age and cycloplegics: Cycloplegia in refraction: age and cycloplegics

Sanfilippo, P. G., Chu, B-S., Bigault, O., Kearns, L. S., Boon, M-Y., Young, T. L., Hammond, C. J., Hewitt, A. W. & Mackey, D., Aug 2016, In : Acta Ophthalmologica. 94, 5, p. e373

Research output: Contribution to journalComment/debate

2018
1 Citation (Scopus)
Blindness
Schizophrenia
Population
Cortical Blindness
Western Australia
2019
1 Citation (Scopus)
Open Access

The correlation between Glaucoma polygenic risk score and IOP measured by Icare (R) HOME tonometry within and outside of office hours

Awadalla, M. S., Hassall, M., Qassim, A., Thi Thi Nguyen, Han, X., MacGregor, S., Landers, J., Craig, J. E., Mackey, D. A. & Hewitt, A. W., Jul 2019, In : Investigative ophthalmology & visual science. 60, 9, 3 p., 2404.

Research output: Contribution to journalAbstract/Meeting Abstract

2016
10 Citations (Scopus)

When do myopia genes have their effect? Comparison of genetic risks between children and adults

Tideman, J. W. L., Fan, Q., Polling, J. R., Guo, X., Yazar, S., Khawaja, A., Höhn, R., Lu, Y., Jaddoe, V. W. V., Yamashiro, K., Yoshikawa, M., Gerhold-Ay, A., Nickels, S., Zeller, T., He, M., Boutin, T., Bencic, G., Vitart, V., Mackey, D., Foster, P. J. & 5 othersMacgregor, S., Williams, C., Saw, S. M., Guggenheim, J. A. & Klaver, C. C. W., 2016, In : Genetic Epidemiology. 40, 8, p. 756-66 689 p.

Research output: Contribution to journalArticle

Myopia
Genetic Loci
Refractive Errors
Age Groups
Single Nucleotide Polymorphism
2018
Open Access
2016
17 Citations (Scopus)

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
Leber's Hereditary Optic Atrophy
Induced Pluripotent Stem Cells
Oxidative Phosphorylation
Fibroblasts
Mitochondrial DNA
11 Citations (Scopus)

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

Ng, S. K., Burdon, K. P., Fitzgerald, J. T., Zhou, T., Fogarty, R., Souzeau, E., Landers, J., Mills, R. A., Casson, R. J., Ridge, B., Graham, S. L., Hewitt, A. W., Mackey, D. A., Healey, P. R., Wang, J. J., Mitchell, P., MacGregor, S. & Craig, J. E., Jun 2016, In : Investigative ophthalmology & visual science. 57, 7, p. 3416-3421 6 p.

Research output: Contribution to journalArticle

Open Access
2017
4 Citations (Scopus)

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
MicroRNAs
Genome
Endophenotypes
Primary Open Angle Glaucoma
Genes
2018

Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma

Singh, L. N., Crowston, J. G., Lopez Sanchez, M. I. G., Van Bergen, N. J., Kearns, L. S., Hewitt, A. W., Yazar, S., Mackey, D. A., Wallace, D. C. & Trounce, I. A., 1 Sep 2018, In : Investigative Ophthalmology and Visual Science. 59, 11, p. 4598-4602 5 p.

Research output: Contribution to journalArticle

Open Access
Mitochondrial Diseases
Disease Susceptibility
Mitochondrial DNA
Endophenotypes
Mitochondrial Genes
2017
9 Citations (Scopus)

High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia

Javadiyan, S., Craig, J. E., Souzeau, E., Sharma, S., Lower, K. M., Mackey, D. A., Staffieri, S. E., Elder, J. E., Taranath, D., Straga, T., Black, J., Pater, J., Casey, T., Hewitt, A. W. & Burdon, K. P., 1 Oct 2017, In : G3: Genes, Genomes, Genetics. 7, 10, p. 3257-3268 12 p.

Research output: Contribution to journalArticle

Open Access
South Australia
Genetic Testing
Cataract
Pediatrics
Mutation
2016
360 Citations (Scopus)

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., Elee, K., Hunter, D. J., Sardell, R. J., Mitchell, P. & 56 othersMerriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., Mcallister, I., Isaacs, T., Hall, J., Lake, S., Mackey, D., Constable, I., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., Von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Etsironi, E., Park, K. H., Farrer, L. A., Orlin, A. & Brucker, A., 2016, In : Nature Genetics. 48, 2, p. 134-143

Research output: Contribution to journalArticle

Genome-Wide Association Study
Macular Degeneration
Blindness
Proteins
Therapeutics
2019

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

International Glaucoma Genetics Consortium, NEIGHBORHOOD Consortium & UK Biobank Eye and Vision Consortium, 1 Dec 2019, In : Communications Biology. 2, 1, 435.

Research output: Contribution to journalArticle

Open Access
Genome-Wide Association Study
Optic Disk
optics
Optics
nerve tissue
2018
3 Citations (Scopus)
Open Access

An update of the prevalence of myopia in an older Australian population

Mackey, D., Lingham, G., Lee, S., Hunter, M., Wood, D., Hewitt, A. W., Mitchell, P., Taylor, H. R. & Yazar, S., Jul 2018, In : Investigative ophthalmology & visual science. 59, 9, 3 p., 3954.

Research output: Contribution to journalAbstract/Meeting Abstract

2017
14 Citations (Scopus)

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Thomson, B. R., Souma, T., Tompson, S. W., Onay, T., Kizhatil, K., Siggs, O. M., Feng, L., Whisenhunt, K. N., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D. N., Finzi, S., Tanna, C. E., Hewitt, A. W., Mackey, D. A., Bradfield, Y. S., Souzeau, E., Javadiyan, S., Wiggs, J. L., Pasutto, F. & 6 othersLiu, X., John, S. W. M., Craig, J. E., Jin, J., Young, T. L. & Quaggin, S. E., 1 Dec 2017, In : Journal of Clinical Investigation. 127, 12, p. 4421-4436 16 p.

Research output: Contribution to journalArticle

Open Access
Angiopoietin-1
Angiopoietins
Glaucoma
Trabecular Meshwork
Aqueous Humor
1 Citation (Scopus)

THE PROFILE OF OCULAR TUMOUR IN THE WESTERN AUSTRALIAN POPULATION: 1982 TO 2016

Dickens, T-A., Franchina, M., Gajdatsy, A. & Mackey, D., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 99-99 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2019

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

Lee, S. S. Y., Yazar, S., Pasquale, L. R., Sanfilippo, P. G., Hewitt, A. W., Hickey, M., Skinner, R. & Mackey, D. A., May 2019, In : Asia-Pacific Journal of Ophthalmology. 8, 3, p. 224-228 5 p.

Research output: Contribution to journalArticle

Optic Disk
Contraceptive Agents
Glaucoma
Menarche
Parity
2 Citations (Scopus)
78 Downloads (Pure)

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Spracklen, C. N., Karaderi, T., Yaghootkar, H., Schurmann, C., Fine, R. S., Kutalik, Z., Preuss, M. H., Lu, Y., Wittemans, L. B. L., Adair, L. S., Allison, M., Amin, N., Auer, P. L., Bartz, T. M., Blueher, M., Boehnke, M., Borja, J. B., Bork-Jensen, J., Broer, L., Chasman, D. I. & 84 othersChen, Y-D. I., Chirstofidou, P., Demirkan, A., van Duijn, C. M., Feitosa, M. F., Garcia, M. E., Graff, M., Grallert, H., Grarup, N., Guo, X., Haesser, J., Hansen, T., Harris, T. B., Highland, H. M., Hong, J., Ikram, M. A., Ingelsson, E., Jackson, R., Jousilahti, P., Kahonen, M., Kizer, J. R., Kovacs, P., Kriebel, J., Laakso, M., Lange, L. A., Lehtimaki, T., Li, J., Ruifang Li-Gao, Lind, L., Luan, J., Lyytikainen, L-P., MacGregor, S., Mackey, D. A., Mahajan, A., Mangino, M., Mannisto, S., McCarthy, M. I., McKnight, B., Medina-Gomez, C., Meigs, J. B., Molnos, S., Mook-Kanamori, D., Morris, A. P., de Mutsert, R., Nalls, M. A., Nedeljkovic, I., North, K. E., Pennell, C. E., Pradhan, A. D., Province, M. A., Raitakari, O. T., Raulerson, C. K., Reiner, A. P., Ridker, P. M., Ripatti, S., Roberston, N., Rotter, J. I., Salomaa, V., Sandoval-Zarate, A. A., Sitlani, C. M., Spector, T. D., Strauch, K., Stumvoll, M., Taylor, K. D., Thuesen, B., Toenjes, A., Uitterlinden, A. G., Venturini, C., Walker, M., Wang, C. A., Wang, S., Wareham, N. J., Willems, S. M., van Dijk, K. W., Wilson, J. G., Wu, Y., Yao, J., Young, K. L., Langenberg, C., Frayling, T. M., Kilpelainen, T. O., Lindgren, C. M., Loos, R. J. F. & Mohlke, K. L., 3 Jul 2019, In : American Journal of Human Genetics. 105, 1, p. 15-28 14 p.

Research output: Contribution to journalArticle

File
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
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

2016
3 Citations (Scopus)
175 Downloads (Pure)
Open Access
File
Refractive Errors
Nerve Fibers
Visual Acuity
Young Adult
Anesthesia
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
17 Citations (Scopus)

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

Japan Glaucoma Society Omics Group (JGS-OG) & NEIGHBORHOOD Consortium, 15 Apr 2018, In : Human Molecular Genetics. 27, 8, p. 1486-1496 11 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Primary Open Angle Glaucoma
Blindness
Epidermal Growth Factor Receptor
Glaucoma
11 Citations (Scopus)
321 Downloads (Pure)
Open Access
File
Retinal Vessels
Angiography
Optical tomography
Optical Coherence Tomography
Image quality
2016

Myopia—The future progression of myopia: Seeing where we are going

Mackey, D., 2016, In : Ophthalmic Genetics. 37, 4, p. 361-365

Research output: Contribution to journalArticle

Myopia
carbosulfan
2018
5 Citations (Scopus)

Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma

Int Glaucoma Genetics Consortium, NEIGHBORHOOD Consortium & Mackey, D. A., Jan 2018, In : PLoS Genetics. 14, 1, 24 p., 1007145.

Research output: Contribution to journalArticle

Open Access
2019

How does spending time outdoors protect against myopia? A review

Lingham, G., MacKey, D. A., Lucas, R. & Yazar, S., 13 Nov 2019, In : British Journal of Ophthalmology.

Research output: Contribution to journalReview article

Myopia
Light
Circadian Rhythm
Vitamin D
Exercise
2017
9 Citations (Scopus)
144 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
2016
14 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 othersHysi, 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

Genome-Wide Association Study
Hispanic Americans
Single Nucleotide Polymorphism
Cornea
Keratoconus
2018
1 Citation (Scopus)

Single-cell profiling identifies key pathways expressed by iPSCs cultured in different commercial media

Daniszewski, M., Quan Nguyen, Chy, H. S., Singh, V., Crombie, D. E., Kulkarni, T., Liang, H. H., Sivakumaran, P., Lidgerwood, G. E., Hernandez, D., Conquest, A., Rooney, L. A., Chevalier, S., Andersen, S. B., Senabouth, A., Vickers, J. C., Mackey, D. A., Craig, J. E., Laslett, A. L., Hewitt, A. W. & 2 othersPowell, J. E. & Pebay, A., 28 Sep 2018, In : Iscience. 7, p. 30-39

Research output: Contribution to journalArticle

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
28 Citations (Scopus)

Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies

Lopez Sanchez, M. I. G., Crowston, J. G., Mackey, D. & Trounce, I. A., Sep 2016, In : Pharmacology & Therapeutics. 165, p. 132-152 21 p.

Research output: Contribution to journalReview article

Optic Nerve Diseases
Retinal Ganglion Cells
Autosomal Dominant Optic Atrophy
Leber's Hereditary Optic Atrophy
Mitochondrial Diseases
7 Citations (Scopus)
Scotoma
Outcome Assessment (Health Care)
Equipment and Supplies
Ophthalmology
Prospective Studies