• The University of Western Australia (M517), 35 Stirling Highway,

    6009 Perth

    Australia

  • 5764 Citations
  • 40 h-Index
20052019
If you made any changes in Pure these will be visible here soon.

Research Output 2005 2019

Filter
Article
2016
79 Citations (Scopus)
235 Downloads (Pure)

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4

Johansson, P., Aoude, L. G., Wadt, K., Glasson, W. J., Warrier, S. K., Hewitt, A., Kiilgaard, J. F., Heegaard, S., Isaacs, T., Franchina, M., Ingvar, C., Vermeulen, T., Whitehead, K. J., Schmidt, C. W., Palmer, J. M., Symmons, J., Gerdes, A. M., Jönsson, G. & Hayward, N. K., 26 Jan 2016, In : Oncotarget. 7, 4, p. 4624-4631

Research output: Contribution to journalArticle

Open Access
File
High-Throughput Nucleotide Sequencing
Mutation
Uveal melanoma
Genes
Exome
12 Citations (Scopus)

Defined Medium Conditions for the Induction and Expansion of Human Pluripotent Stem Cell-Derived Retinal Pigment Epithelium

Lidgerwood, G. E., Lim, S. Y., Crombie, D. E., Ali, R., Gill, K. P., Hernandez, D., Kie, J., Conquest, A., Waugh, H. S., Wong, R. C., Liang, H. H., Hewitt, A., Davidson, K. C. & Pebay, A., 2016, In : Stem Cell Reviews. 12, p. 179-188

Research output: Contribution to journalArticle

3 Citations (Scopus)
170 Downloads (Pure)
Open Access
File
Refractive Errors
Nerve Fibers
Visual Acuity
Young Adult
Anesthesia
6 Citations (Scopus)

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Souzeau, E., Burdon, KP., Mackey, D. A., Hewitt, A., Savarirayan, R., Otlowski, M. & Craig, JE., 2016, In : Translational Vision Science and Technology. 5, 1, 11 p., 3.

Research output: Contribution to journalArticle

Open Access
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
95 Citations (Scopus)
210 Downloads (Pure)

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Bailey, J. N. C., Loomis, S. J., Kang, J. H., Allingham, R. R., Gharahkhani, P., Khor, C. C., Burdon, K. P., Aschard, H., Chasman, D. I., Igo, R. P., Hysi, P. G., Glastonbury, C. A., Ashley-Koch, A., Brilliant, M., Brown, A. A., Budenz, D. L., Buil, A., Cheng, C. Y., Choi, H., Christen, W. G. & 58 othersCurhan, G., De Vivo, I., Fingert, J. H., Foster, P. J., Fuchs, C., Gaasterland, D., Gaasterland, T., Hewitt, A. W., Hu, F., Hunter, D. J., Khawaja, A. P., Lee, R. K., Li, Z., Lichter, P. R., Mackey, D., Mcguffin, P., Mitchell, P., Moroi, S. E., Perera, S. A., Pepper, K. W., Qi, Q., Realini, T., Richards, J. E., Ridker, P. M., Rimm, E., Ritch, R., Ritchie, M., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Song, Y. E., Tamimi, R. M., Topouzis, F., Viswanathan, A. C., Verma, S. S., Vollrath, D., Wang, J. J., Weisschuh, N., Wissinger, B., Wollstein, G., Wong, T. Y., Yaspan, B. L., Zack, D. J., Zhang, K., Weinreb, R. N., Pericak-Vance, M. A., Small, K., Hammond, C. J., Aung, T., Liu, Y., Vithana, E. N., Macgregor, S., Craig, J. E., Kraft, P., Howell, G., Hauser, M. A. & Pasquale, L. R., Feb 2016, In : Nature Genetics. 48, 2, p. 189-194 7 p.

Research output: Contribution to journalArticle

Open Access
File
Genome-Wide Association Study
Odds Ratio
Single Nucleotide Polymorphism
Meta-Analysis
Retinal Ganglion Cells
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
42 Citations (Scopus)

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

Fan, Q., Verhoeven, V. J. M. J. M., Wojciechowski, R., Barathi, V. A. A., Hysi, P. G. G., Guggenheim, J. A. A., Hohn, R., Vitart, V., Khawaja, A. P. P., Yamashiro, K., Hosseini, S. M. M., Lehtimaki, T., Lu, Y., Haller, T., Xie, J., Delcourt, C., Pirastu, M., Wedenoja, J., Gharahkhani, P., Venturini, C. & 134 othersMiyake, M., Hewitt, A. W. W., Guo, X., Mazur, J., Huffman, J. E. E., Williams, K. M. M., Polasek, O., Campbell, H., Rudan, I., Vatavuk, Z., Wilson, J. F. F., Joshi, P. K. K., McMahon, G., St Pourcain, B., Evans, D. M. M., Simpson, C. L. L., Schwantes-An, T-H. -H., Igo, R. P. P., Mirshahi, A., Cougnard-Gregoire, A., Bellenguez, C., Blettner, M., Raitakari, O., Kahonen, M., Seppala, I., Zeller, T., Meitinger, T., Ried, J. S. S., Gieger, C., Portas, L., Van Leeuwen, E. M. M., Amin, N., Uitterlinden, A. G. G., Rivadeneira, F., Hofman, A., Vingerling, J. R. R., Wang, Y. X. X., Wang, X., Tai-Hui Boh, E., Ikram, M. K. K., Sabanayagam, C., Gupta, P., Tan, V., Zhou, L., Ho, C. E. H. E. H., Lim, W., Beuerman, R. W. W., Siantar, R., Tai, E-S. -S., Vithana, E., Mihailov, E., Khor, C-C. -C., Hayward, C., Luben, R. N. N., Foster, P. J. J., Klein, B. E. K. E. K., Klein, R., Wong, H-S. -S., Mitchell, P., Metspalu, A., Aung, T., Young, T. L. L., He, M., Parssinen, O., Van Duijn, C. M. M., Jin Wang, J., Williams, C., Jonas, J. B. B., Teo, Y-Y. -Y., MacKey, D. A., Oexle, K., Yoshimura, N., Paterson, A. D. D., Pfeiffer, N., Wong, T-Y. -Y., Baird, P. N. N., Stambolian, D., Wilson, J. E. B. E. B., Cheng, C-Y. -Y., Hammond, C. J. J., Klaver, C. C. W. C. W., Saw, S-M. -M., Rahi, J. S. S., Korobelnik, J-F. -F., Kemp, J. P. P., Timpson, N. J. J., Smith, G. D. D., Craig, J. E. E., Burdon, K. P. P., Fogarty, R. D. D., Iyengar, S. K. K., Chew, E., Janmahasatian, S., Martin, N. G. G., MacGregor, S., Xu, L., Schache, M., Nangia, V., Panda-Jonas, S., Wright, A. F. F., Fondran, J. R. R., Lass, J. H. H., Feng, S., Zhao, J. H. H., Khaw, K-T. -T., Wareham, N. J. J., Rantanen, T., Kaprio, J., Pang, C. P. P., Chen, L. J. J., Tam, P. O. O., Jhanji, V., Young, A. L. L., Doring, A., Raffel, L. J. J., Cotch, M-F. -F., Li, X., Yip, S. P. P., Yap, M. K. H. K. H., Biino, G., Vaccargiu, S., Fossarello, M., Fleck, B., Yazar, S., Tideman, J. W. L. W. L., Tedja, M., Deangelis, M. M. M., Morrison, M., Farrer, L., Zhou, X., Chen, W., Mizuki, N., Meguro, A. & Makela, K. M. M., 2016, In : Nature Communications. 7

Research output: Contribution to journalArticle

Open Access
myopia
Refractive Errors
Myopia
polymorphism
nucleotides
9 Citations (Scopus)
259 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
5 Citations (Scopus)

PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis

Lester, S., Hewitt, A. W., Ruediger, C. D., Bradbury, L., De Smit, E., Wiese, M. D., Black, R., Harrison, A., Jones, G., Littlejohn, G. O., Merriman, T. R., Shenstone, B., Smith, M. D., Rischmueller, M., Brown, M. A. & Hill, C. L., 2016, In : RMD Open. 2, 1

Research output: Contribution to journalArticle

Giant Cell Arteritis
Non-Receptor Type 22 Protein Tyrosine Phosphatase
Alleles
Protein Interaction Domains and Motifs
Biopsy
3 Citations (Scopus)

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma

Zhou, T., Souzeau, E., Sharma, S., Siggs, O. M., Goldberg, I., Healey, P. R., Graham, S., Hewitt, A. W., Mackey, D., Casson, R. J., Landers, J., Mills, R., Ellis, J., Leo, P., Brown, M. A., MacGregor, S., Burdon, K. P. & Craig, J. E., Nov 2016, In : Molecular genetics & genomic medicine. 4, 6, p. 624-633 10 p.

Research output: Contribution to journalArticle

Open Access
Optic Disk
Genome-Wide Association Study
Exome
Genes
Glaucoma
8 Citations (Scopus)
204 Downloads (Pure)
Open Access
File
Bruch Membrane
Optical Coherence Tomography
Optic Disk
Young Adult
Population
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
2015
9 Citations (Scopus)

Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma

Gharahkhani, P., Burdon, K. P., Hewitt, A. W., Law, M. H., Souzeau, E., Montgomery, G. W., Radford-Smith, G., Mackey, D., Craig, J. E. & Macgregor, S., 2015, In : Investigative Ophthalmology and Visual Science. 56, 9, p. 5087-5093

Research output: Contribution to journalArticle

Odds Ratio
Incidental Findings
Penetrance
Genome-Wide Association Study
Gene Frequency
41 Citations (Scopus)

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Aung, T., Ozaki, M., Mizoguchi, T., Allingham, R. R., Li, Z., Haripriya, A., Nakano, S., Uebe, S., Harder, J. M., Chan, A. S. Y., Lee, M. C., Burdon, K. P., Astakhov, Y. S., Abu-Amero, K. K., Zenteno, J. C., Nilgün, Y., Zarnowski, T., Pakravan, M., Safieh, L. A., Jia, L. & 141 othersWang, Y. X., Williams, S., Paoli, D., Schlottmann, P. G., Huang, L., Sim, K. S., Foo, J. N., Nakano, M., Ikeda, Y., Kumar, R. S., Ueno, M., Manabe, S-I., Hayashi, K., Kazama, S., Ideta, R., Mori, Y., Miyata, K., Sugiyama, K., Higashide, T., Chihara, E., Inoue, K., Ishiko, S., Yoshida, A., Yanagi, M., Kiuchi, Y., Aihara, M., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Matsuda, F., Yamashiro, K., Gotoh, N., Miyake, M., Astakhov, S. Y., Osman, E. A., Al-Obeidan, S. A., Owaidhah, O., Al-Jasim, L., Shahwan, S. A., Fogarty, R. A., Leo, P., Yetkin, Y., Ouz, C., Kanavi, M. R., Beni, A. N., Yazdani, S., Akopov, E. L., Toh, K-Y., Howell, G. R., Orr, A. C., Goh, Y., Meah, W. Y., Peh, S. Q., Kosior-Jarecka, E., Lukasik, U., Krumbiegel, M., Vithana, E. N., Wong, T. Y., Liu, Y., Koch, A. E. A., Challa, P., Rautenbach, R. M., Mackey, D., Hewitt, A. W., Mitchell, P., Wang, J. J., Ziskind, A., Carmichael, T., Ramakrishnan, R., Narendran, K., Venkatesh, R., Vijayan, S., Zhao, P., Chen, X., Guadarrama-Vallejo, D., Cheng, C. Y., Perera, S. A., Husain, R., Ho, S-L., Welge-Luessen, U-C., Mardin, C., Schloetzer-Schrehardt, U., Hillmer, A. M., Herms, S., Moebus, S., Nöthen, M. M., Weisschuh, N., Shetty, R., Ghosh, A., Teo, Y. Y., Brown, M. A., Lischinsky, I., Crowston, J. G., Coote, M., Zhao, B., Sang, J., Zhang, N., You, Q., Vysochinskaya, V., Founti, P., Chatzikyriakidou, A., Lambropoulos, A., Anastasopoulos, E., Coleman, A. L., Wilson, M. R., Rhee, D. J., Kang, J. H., May-Bolchakova, I., Heegaard, S., Mori, K., Alward, W. L. M., Jonas, J. B., Xu, L., Liebmann, J. M., Chowbay, B., Schaeffeler, E., Schwab, M., Lerner, F., Wang, N., Yang, Z., Frezzotti, P., Kinoshita, S., Fingert, J. H., Inatani, M., Tashiro, K., Reis, A., Edward, D. P., Pasquale, L. R., Kubota, T., Wiggs, J. L., Pasutto, F., Topouzis, F., Dubina, M., Craig, J. E., Yoshimura, N., Sundaresan, P., John, S. W. M., Ritch, R., Hauser, M. A. & Khor, C-C., 2015, In : Nature Genetics. 47, 4, p. 387-392

Research output: Contribution to journalArticle

Exfoliation Syndrome
Odds Ratio
Alleles
Genome
Genetic Loci
51 Citations (Scopus)

A common variant near TGFBR3 is associated with primary open angle glaucoma

Li, Z., Allingham, R. R., Nakano, M., Jia, L., Chen, Y., Ikeda, Y., Mani, B., Chen, L. J., Kee, C., Garway-Heath, D. F., Sripriya, S., Fuse, N., Abu-Amero, K. K., Huang, C., Namburi, P., Burdon, K., Perera, S. A., Gharahkhani, P., Lin, Y., Ueno, M. & 91 othersOzaki, M., Mizoguchi, T., Krishnadas, S. R., Osman, E. A., Lee, M. C., Chan, A. S. Y., Tajudin, L. S. A., Do, T., Goncalves, A., Reynier, P., Zhang, H., Bourne, R., Goh, D., Broadway, D., Husain, R., Negi, A. K., Su, D. H., Ho, C. L., Blanco, A. A., Leung, C. K. S., Wong, T. T., Yakub, A., Liu, Y., Nongpiur, M. E., Han, J. C., Hon, D. N., Shantha, B., Zhao, B., Sang, J., Zhang, N., Sato, R., Yoshii, K., Panda-Jonas, S., Ashley Koch, A. E., Herndon, L. W., Moroi, S. E., Challa, P., Foo, J. N., Bei, J. X., Zeng, Y. X., Simmons, C. P., Bich Chau, T. N., Sharmila, P. F., Chew, M., Lim, B., Tam, P. O. S., Chua, E., Ng, X. Y., Yong, V. H. K., Chong, Y. F., Meah, W. Y., Vijayan, S., Seongsoo, S., Xu, W., Teo, Y. Y., Cooke Bailey, J. N., Kang, J. H., Haines, J. L., Cheng, C. Y., Saw, S. M., Tai, E. S., Richards, J. E., Ritch, R., Gaasterland, D. E., Pasquale, L. R., Liu, J., Jonas, J. B., Milea, D., George, R., Al-Obeidan, S. A., Mori, K., Macgregor, S., Hewitt, A. W., Girkin, C. A., Zhang, M., Sundaresan, P., Vijaya, L., Mackey, D., Wong, T. Y., Craig, J. E., Sun, X., Kinoshita, S., Wiggs, J. L., Khor, C. C., Yang, Z., Pang, C. P., Wang, N., Hauser, M. A., Tashiro, K., Aung, T. & Vithana, E. N., 2015, In : Human Molecular Genetics. 24, 13, p. 3880-3892 13 p.

Research output: Contribution to journalArticle

Open Access
Single Nucleotide Polymorphism
Exome
Optic Disk
Blindness
Glaucoma
23 Citations (Scopus)

A comparative analysis of high-throughput platforms for validation of a circulating microRNA signature in diabetic retinopathy

Farr, R. J., Januszewski, A. S., Joglekar, M. V., Liang, H., Mcaulley, A. K., Hewitt, A., Thomas, H. E., Loudovaris, T., Kay, T. W., Jenkins, A. & Hardikar, A. A., 2015, In : Scientific Reports. 5, p. 10375

Research output: Contribution to journalArticle

Open Access
25 Citations (Scopus)

A genetic variant regulating miR-126 is associated with sight threatening diabetic retinopathy

Mcauley, A. K., Dirani, M., Wang, J., Connell, P. P., Lamoureux, E. L. & Hewitt, A., Mar 2015, In : Diabetes and Vascular Disease Research. 12, 2, p. 133-138

Research output: Contribution to journalArticle

Open Access
Diabetic Retinopathy
Single Nucleotide Polymorphism
Alleles
Confounding Factors (Epidemiology)
Gold
35 Citations (Scopus)

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

Springelkamp, H., Iglesias, A. I., Cuellar-Partida, G., Amin, N., Burdon, K. P., Van Leeuwen, E. M., Gharahkhani, P., Mishra, A., Van Der Lee, S. J., Hewitt, A. W., Rivadeneira, F., Viswanathan, A. C., Wolfs, R. C. W., Martin, N. G., Ramdas, W. D., Van Koolwijk, L. M., Pennell, C., Vingerling, J. R., Mountain, J., Uitterlinden, A. G. & 9 othersHofman, A., Mitchell, P., Lemij, H. G., Wang, J. J., Klaver, C. C. W., Mackey, D., Craig, J. E., Van Duijn, C. M. & Macgregor, S., 2015, In : Human Molecular Genetics. 24, 9, p. 2689-2699

Research output: Contribution to journalArticle

Open Access
Intraocular Pressure
Glaucoma
Single Nucleotide Polymorphism
Odds Ratio
Genes
2 Citations (Scopus)
148 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
11 Citations (Scopus)

Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema

Kaidonis, G., Burdon, K. P., Gillies, M. C., Abhary, S., Essex, R. W., Chang, H., Pal, B., Pefkianaki, M., Daniell, M., Lake, S., Petrovsky, N., Hewitt, A., Jenkins, A., Lamoureux, E. L., Gleadle, J. M. & Craig, J. E., 2015, In : Ophthalmology. 122, 9, p. 1828-1836

Research output: Contribution to journalArticle

34 Citations (Scopus)

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

Awadalla, M. S., Fingert, J. H., Roos, B. E., Chen, S., Holmes, R., Graham, S. L., Chehade, M., Galanopolous, A., Ridge, B., Souzeau, E., Zhou, T., Siggs, O. M., Hewitt, A., Mackey, D., Burdon, K. P. & Craig, J. E., Jan 2015, In : American Journal of Ophthalmology. 159, 1, p. 124-130.e1

Research output: Contribution to journalArticle

Open Access
Low Tension Glaucoma
Glaucoma
Comparative Genomic Hybridization
Genes
Inheritance Patterns
5 Citations (Scopus)

Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review

Sanfilippo, P. G., Kearns, L. S., Wright, P., Mackey, D. & Hewitt, A., Aug 2015, In : Clinical and Experimental Ophthalmology. 43, 6, p. 578-590

Research output: Contribution to journalArticle

Open Access
Eye Diseases
Genetic Testing
Ophthalmology
Macular Degeneration
Human Genome
14 Citations (Scopus)
397 Downloads (Pure)

Distribution of astigmatism as a function of age in an Australian population

Sanfilippo, P., Yazar, S., Kearns, L., Sherwin, J. C., Hewitt, A. & Mackey, D., Aug 2015, In : Acta Ophthalmologica. 93, 5, p. e377-e385

Research output: Contribution to journalArticle

Open Access
File
Astigmatism
Population
Refractive Errors
Odds Ratio
Refractive Surgical Procedures
1 Citation (Scopus)
307 Downloads (Pure)

Don't it make your brown eyes blue? A comparison of iris colour across latitude in Australian twins

Sanfilippo, P., Wilkinson, C. H., Ruddle, J. B., Zhu, G., Martin, N. G., Hewitt, A. & Mackey, D., Mar 2015, In : Clinical and Experimental Optometry. 98, 2, p. 172-176

Research output: Contribution to journalArticle

Open Access
File
Tasmania
Iris
Queensland
Color
Twin Studies
11 Citations (Scopus)

Genetic and environmental factors in conjunctival UV autofluorescence

Yazar, S., Cuellar Partida, G., Mcknight, C. M., Quach-Thanissorn, P., Mountain, J., Coroneo, M. T., Pennell, C., Hewitt, A. W., Macgregor, S. & Mackey, D., 2015, In : JAMA Ophthalmology. 133, 4, p. 406-412

Research output: Contribution to journalArticle

Twin Studies
Solar System
Genome-Wide Association Study
Genes
Single Nucleotide Polymorphism
47 Citations (Scopus)

Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis

Robinson, P. C., Claushuis, T. A. M., Cortes, A., Martin, T. M., Evans, D. M., Leo, P. J., Mukhopadhyay, P., Bradbury, L. A., Cremin, K., Harris, J. E., Maksymowych, W. P., Inman, R. D., Rahman, P., Haroon, N., Gensler, L. S., Powell, J. E., Van Der Horst-Bruinsma, I. E., Hewitt, A. W., Craig, J. E., Lim, L. L. & 11 othersWakefield, D., Mccluskey, P. J. C., Voigt, V., Fleming, P., Degli-Esposti, M., Pointon, J. J., Weisman, M. H., Wordsworth, B. P., Reveille, J. D., Rosenbaum, J. T. & Brown, M. A., Jan 2015, In : Arthritis and Rheumatology. 67, 1, p. 140-151

Research output: Contribution to journalArticle

Open Access
Anterior Uveitis
Ankylosing Spondylitis
Dissection
Interleukin-10
HLA-B27 Antigen
13 Citations (Scopus)

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Li, Q., Wojciechowski, R., Simpson, C. L., Hysi, P. G., Verhoeven, V. J. M., Ikram, M. K., Höhn, R., Vitart, V., Hewitt, A., Oexle, K., Mäkelä, K. M., Macgregor, S., Pirastu, M., Fan, Q., Cheng, C. Y., St Pourcain, B., Mcmahon, G., Kemp, J. P., Northstone, K., Rahi, J. S. & 47 othersCumberland, P. M., Martin, N. G., Sanfilippo, P., Lu, Y., Wang, Y. X., Hayward, C., Polašek, O., Campbell, H., Bencic, G., Wright, A. F., Wedenoja, J., Zeller, T., Schillert, A., Mirshahi, A., Lackner, K., Yip, S. P., Yap, M. K. H., Ried, J. S., Gieger, C., Murgia, F., Wilson, J. F., Fleck, B., Yazar, S., Vingerling, J. R., Hofman, A., Uitterlinden, A., Rivadeneira, F., Amin, N., Karssen, L., Oostra, B. A., Zhou, X., Teo, Y. Y., Tai, E. S., Vithana, E., Barathi, V., Zheng, Y., Siantar, R. G., Neelam, K., Shin, Y., Lam, J., Yonova-Doing, E., Venturini, C., Hosseini, S. M., Wong, H. S., Lehtimäki, T., Kähönen, M. & Raitakari, O., 2015, In : Human Genetics. 134, 2, p. 131-146

Research output: Contribution to journalArticle

Open Access
Refractive Errors
Astigmatism
Genome-Wide Association Study
Meta-Analysis
Population
28 Citations (Scopus)

Identification of myopia-associated WNT7B polymorphisms provides insights into the mechanism underlying the development of myopia

Miyake, M., Yamashiro, K., Tabara, Y., Suda, K., Morooka, S., Nakanishi, H., Khor, C. C., Chen, P., Qiao, F., Nakata, I., Akagi-Kurashige, Y., Gotoh, N., Tsujikawa, A., Meguro, A., Kusuhara, S., Polasek, O., Hayward, C., Wright, A. F., Campbell, H., Richardson, A. J. & 26 othersSchäche, M., Takeuchi, M., Mackey, D., Hewitt, A. W., Cuellar, G., Shi, Y., Huang, L., Yang, Z., Leung, K., Kao, P. Y. P., Yap, M., Yip, S., Moriyama, M., Ohno-Matsui, K., Mizuki, N., Macgregor, S., Vitart, V., Aung, T., Saw, S., Tai, E. S., Wong, T., Cheng, C., Baird, P. N., Yamada, R., Matsuda, F. & Yoshimura, N., 2015, In : Nature Communications. 6, p. 6689

Research output: Contribution to journalArticle

Open Access
myopia
Myopia
polymorphism
Polymorphism
Genes
27 Citations (Scopus)

Measurement of systemic mitochondrial function in advanced Primary Open-Angle Glaucoma and leber hereditary optic neuropathy

Van Bergen, N. J., Crowston, J. G., Craig, J. E., Burdon, K. P., Kearns, L. S., Sharma, S., Hewitt, A. W., Mackey, D. & Trounce, I. A., 23 Oct 2015, In : PLoS One. 10, 10, p. 3-18 16 p., e0140919.

Research output: Contribution to journalArticle

Open Access
Leber's Hereditary Optic Atrophy
glaucoma
peripheral nervous system diseases
optics
Optics
32 Citations (Scopus)

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Springelkamp, H., Mishra, A., Hysi, P. G., Gharahkhani, P., Höhn, R., Khor, C. C., Cooke Bailey, J. N., Luo, X., Ramdas, W. D., Vithana, E. N. I., Koh, V., Yazar, S., Xu, L., Forward, H., Kearns, L. S., Amin, N., Iglesias, A. I., Sim, K., Van Leeuwen, E. M., Demirkan, A. & 65 othersVan Der Lee, S. J., Loon, S. C., Rivadeneira, F. F., Nag, A., Sanfilippo, P., Schillert, A., De Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Hofman, A. F., Zhou, T., Burdon, K. P., Spector, T. D., Lackner, K. J., Saw, S., Vingerling, J. R., Teo, Y. Y. I., Pasquale, L. R., Wolfs, R. C. W., Lemij, H. G., Tai, E. S., Jonas, J. B., Cheng, C., Aung, T., Jansonius, N. M., Klaver, C. C. W., Craig, J. E., Young, T. L., Haines, J. L., Macgregor, S., Mackey, D., Pfeiffer, N., Wong, T., Wiggs, J. L., Hewitt, A. W., Van Duijn, C. M., Hammond, C. J., Allingham, R. R., Brilliant, M. H., Budenz, D. L., Bailey, J. N. C., Christen, W. G., Fingert, J. H., Gaasterland, D. E., Gaasterland, T. M., Hauser, M. A., Kang, J., Kraft, P. L., Lee, R. K., Lichter, P. A., Liu, Y., Loomis, S. J., Moroi, S. E., Pericak-Vance, M. A., Realini, A. T., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Weinréb, R. N., Wollstein, G., Zack, D. J. & Zhang, K., 2015, In : Genetic Epidemiology. 39, 3, p. 207-216

Research output: Contribution to journalArticle

Genome-Wide Association Study
Optic Disk
Glaucoma
Meta-Analysis
Optic Nerve Diseases
8 Citations (Scopus)

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
Open Angle Glaucoma
Visual Fields
Mutation
Glaucoma
Odds Ratio
34 Citations (Scopus)
494 Downloads (Pure)

Projected worldwide disease burden from giant cell arteritis by 2050

De Smit, E., Palmer, A. J. & Hewitt, A., Jan 2015, In : Journal of Rheumatology. 42, 1, p. 119-125

Research output: Contribution to journalArticle

Open Access
File
Giant Cell Arteritis
Vision Disorders
Oceania
Steroids
Population
16 Citations (Scopus)
358 Downloads (Pure)

Pterygium and conjunctival ultraviolet autofluorescence in young Australian adults: the Raine study

Mcknight, C., Sherwin, J., Yazar, S., Forward, H., Tan, A., Hewitt, A., Smith, E., Turton, D., Byrd, P., Pennell, C., Coroneo, T. & Mackey, D., May 2015, In : Clinical and Experimental Ophthalmology. 43, 4, p. 300-307

Research output: Contribution to journalArticle

Open Access
File
Pterygium
Young Adult
Solar System
Nose
Biomarkers
20 Citations (Scopus)

Retinal microvessels reflect familial vulnerability to psychotic symptoms: A comparison of twins discordant for psychotic symptoms and controls

Meier, M. H., Gillespie, N. A., Hansell, N. K., Hewitt, A., Hickie, I. B., Lu, Y., Mcgrath, J., Macgregor, S., Medland, S. E., Sun, C., Wong, T. Y., Wright, M. J., Zhu, G., Martin, N. G. & Mackey, D., May 2015, In : Schizophrenia Research. 164, 1-3, p. 47-52

Research output: Contribution to journalArticle

Open Access
Microvessels
Psychotic Disorders
Venules
Twin Studies
Proxy
6 Citations (Scopus)

Swimming goggle wear is not associated with an increased prevalence of glaucoma

Franchina, M., Yazar, S., Booth, L., Wan, S. L., Cox, K., Kang, M., Hewitt, A. & Mackey, D., 2015, In : British Journal of Ophthalmology. 99, 2, p. 255-257

Research output: Contribution to journalArticle

Eye Protective Devices
Glaucoma
Intraocular Pressure
Licensure
Visual Fields
22 Citations (Scopus)

TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients

Ashworth-Briggs, E. L., Toh, T., Eri, R., Hewitt, A. & Cook, A. L., 2015, In : Molecular Vision. 21, p. 1162-1172

Research output: Contribution to journalArticle

23 Citations (Scopus)
203 Downloads (Pure)

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

Cuellar-Partida, G., Springelkamp, H., Lucas, S. E. M., Yazar, S., Hewitt, A. W., Iglesias, A. I., Montgomery, G. W., Martin, N. G., Pennell, C., Van Leeuwen, E. M., Verhoeven, V. J. M., Hofman, A., Uitterlinden, A. G., Ramdas, W. D., Wolfs, R. C. W., Vingerling, J. R., Brown, M. A., Mills, R. A., Craig, J. E., Klaver, C. C. W. & 4 othersVan Duijn, C. M., Burdon, K. P., Macgregor, S. & Mackey, D., 1 Sep 2015, In : Human Molecular Genetics. 24, 17, p. 5060-5068

Research output: Contribution to journalArticle

Open Access
File
Keratoconus
Twin Studies
Gene Frequency
Genome
Tasmania
2014
14 Citations (Scopus)

Associations between depression and anxiety symptoms and retinal vessel caliber in adolescents and young adults

Meier, M. H., Gillespie, N. A., Hansell, N. K., Hewitt, A., Hickie, I. B., Lu, Y., Macgregor, S., Medland, S. E., Sun, C., Wong, T. Y., Wright, M. J., Zhu, G., Martin, N. G. & Mackey, D., Nov 2014, In : Psychosomatic Medicine. 76, 9, p. 732-738 7 p.

Research output: Contribution to journalArticle

Open Access
Retinal Vessels
Young Adult
Anxiety
Depression
Twin Studies
5 Citations (Scopus)

Benchmarking undedicated cloud computing providers for analysis of genomic datasets

Yazar, S., Gooden, G. E. C., Mackey, D. & Hewitt, A., 2014, In : PLoS One. 9, 9, p. 1-5

Research output: Contribution to journalArticle

Open Access
Benchmarking
engines
Cloud computing
Engines
genomics
86 Citations (Scopus)

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

Gharahkhani, P., Burdon, K. P., Fogarty, R. D., Sharma, S., Hewitt, A. W., Martin, S., Law, M. H., Cremin, K., Bailey, J. N. C., Loomis, S. J., Pasquale, L. R., Haines, J. L., Hauser, M. A., Viswanathan, A. C., Mcguffin, P. W., Topouzis, F., Foster, P. J. F., Graham, S. L. D., Casson, R. J., Chehade, M. J. & 21 othersWhite, A. J. R., Zhou, T., Souzeau, E., Landers, J., Fitzgerald, J. T., Klebe, S., Ruddle, J. B., Goldberg, I., Healey, P. R., Mills, R. A. D., Wang, J., Montgomery, G. W., Martin, N. G., Radford-Smith, G. L., Whiteman, D. C., Brown, M. A., Wiggs, J. L., Mackey, D., Mitchell, P., Macgregor, S. & Craig, J. E., Oct 2014, In : Nature Genetics. 46, 10, p. 1120-1125 6 p.

Research output: Contribution to journalArticle

Open Access
Odds Ratio
Trabecular Meshwork
Retinal Ganglion Cells
Genome-Wide Association Study
Blindness
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
109 Citations (Scopus)

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Hysi, P. G., Cheng, C-Y., Springelkamp, H., Macgregor, S., Bailey, J. N. C., Wojciechowski, R., Vitart, V., Nag, A., Hewitt, A. W., Höhn, R., Venturini, C., Mirshahi, A., Ramdas, W. D., Thorleifsson, G., Vithana, E., Khor, C-C., Stefansson, A. B., Liao, J., Haines, J. L., Amin, N. & 71 othersWang, Y. X., Wild, P. S., Ozel, A. B., Li, J. Z., Fleck, B. W., Zeller, T., Staffieri, S. E., Teo, Y-Y., Cuellar-Partida, G., Luo, X., Allingham, R. R., Richards, J. E., Senft, A., Karssen, L. C., Zheng, Y., Bellenguez, C., Xu, L., Iglesias, A. I., Wilson, J. F., Kang, J. H., Van Leeuwen, E. M., Jonsson, V., Thorsteinsdottir, U., Despriet, D. D. G., Ennis, S., Moroi, S. E., Martin, N. G., Jansonius, N. M., Yazar, S., Tai, E-S., Amouyel, P., Kirwan, J., Van Koolwijk, L. M. E., Hauser, M. A., Jonasson, F., Leo, P., Loomis, S. J., Fogarty, R., Rivadeneira, F., Kearns, L., Lackner, K. J., De Jong, P. T. V. M., Simpson, C. L., Pennell, C., Oostra, B. A., Uitterlinden, A. G., Saw, S-M., Lotery, A. J., Bailey-Wilson, J. E., Hofman, A., Vingerling, J. R., Maubaret, C., Pfeiffer, N., Wolfs, R. C. W., Lemij, H. G., Young, T. L., Pasquale, L. R., Delcourt, C., Spector, T. D., Klaver, C. C. W., Small, K. S., Burdon, K. P., Stefansson, K., Wong, T-Y., Viswanathan, A., Mackey, D., Craig, J. E., Wiggs, J. L., Van Duijn, C. M., Hammond, C. J. & Aung, T., 2014, In : Nature Genetics. 46, p. 1126

Research output: Contribution to journalArticle

52 Citations (Scopus)

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Springelkamp, H., Höhn, R., Mishra, A., Hysi, P. G., Khor, C. C., Loomis, S. J., Bailey, J. N. C., Gibson, J., Thorleifsson, G., Janssen, S. F., Luo, X., Ramdas, W. D., Vithana, E. N. I., Nongpiur, M. E., Montgomery, G. W., Xu-, L., Mountain, J. E., Gharahkhani, P., Lü, Y., Amin, N. & 142 othersKarssen, L. C., Sim, K., Van Leeuwen, E. M., Iglesias, A. I., Verhoeven, V. J. M., Hauser, M. A., Loon, S. C., Despriet, D. D. G., Nag, A., Venturini, C., Sanfilippo, P. G., Schillert, A., Kang, J. H., Landers, J., Jónasson, F., Cree, A. J., Van Koolwijk, L. M. E., Rivadeneira, F. F., Souzeau, E., Jónsson, V., Menon, G., Mitchell, P. G., Wang, J., Rochtchina, E., Attia, J., Scott, R. J., Holliday, E. G., Baird, P. N., Xie, J., Inouye, M., Viswanathan, A. C., Sim, X., Weinréb, R. N., De Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Hofman, A. F., Ennis, S., Thorsteinsdóttir, U., Burdon, K. P., Allingham, R. R., Brilliant, M. H., Budenz, D. L., Christen, W. G., Fingert, J. H., Friedman, D. S., Gaasterland, D. E., Gaasterland, T. M., Haines, J. L., Kang, J., Kraft, P. L., Lee, R. K., Lichter, P. R., Liu, Y., Moroi, S., Peričak-Vance, M. A. O., Realini, A. T., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G., Zack, D. J., Zhang, K., Barroso, I., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R. J., Rautanen, A., Sawcer, S. J., Trembath, R. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C. O., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R., Strange, A., Su, Z., Vukcevic, D., Donnelly, P., Langford, C. F., Hunt, S. E., Edkins, S. J., Gwilliam, R. G., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M. W., Gray, E. H., Hammond, N., Jayakumar, A., Mccann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M. D., Waller, M. J., Weston, P. J., Widaa, S., Whittaker, P., Spector, T. D., Mirshahi, A., Saw, S., Vingerling, J. R., Teo, Y., Wolfs, R. C. W., Lemij, H. G., Tai, E. S., Jansonius, N. M., Jonas, J. B., Cheng, C., Aung, T., Klaver, C. C. W., Craig, J. E., Macgregor, S., Mackey, D., Lotery, A. J., Stefánsson, K., Bergen, A. A. B., Young, T. L., Wiggs, J. L., Pfeiffer, N., Wong, T., Pasquale, L. R., Hewitt, A. W., Van Duijn, C. M. & Hammond, C. J., 2014, In : Nature Communications. 5, p. 1-7

Research output: Contribution to journalArticle

Open Access
glaucoma
genome
Genome-Wide Association Study
loci
Glaucoma
33 Citations (Scopus)

Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns

Mccarthy, N., Melton, P., Cadby, G., Yazar, S., Franchina, M., Moses, E., Mackey, D. & Hewitt, A., 18 Nov 2014, In : BMC Genomics. 15, p. 1-11 12 p., 981.

Research output: Contribution to journalArticle

Open Access
5 Citations (Scopus)
186 Downloads (Pure)

Multiple prenatal ultrasound scans and ocular development: 20-year follow-up of a randomized controlled trial

Forward, H., Yazar, S., Hewitt, A., Khan, J., Mountain, J. A., Pesudovs, K., Mcknight, C. M., Tan, A., Pennell, C., Mackey, D. & Newnham, J., 4 Aug 2014, In : Ultrasound in Obstetrics & Gynecology. 44, 2, p. 166-170 5 p.

Research output: Contribution to journalArticle

Open Access
File
Randomized Controlled Trials
Biometry
Adult Children
Birth Weight
Pregnancy
39 Citations (Scopus)

Myopia in young adults is inversely related to an objective marker of ocular sun exposure: the Western Australian Raine cohort study

Mcknight, C. M., Sherwin, J., Yazar, S., Forward, H., Tan, A., Hewitt, A., Pennell, C., Mcallister, I., Young, T. L., Coroneo, M. T. & Mackey, D., Nov 2014, In : American Journal of Ophthalmology. 158, 5, p. 1079–1085 7 p.

Research output: Contribution to journalArticle

Refractive Errors
Myopia
Solar System
Young Adult
Cohort Studies
52 Citations (Scopus)

Myopia is associated with lower vitamin D status in young adults

Yazar, S., Hewitt, A., Black, L., Mcknight, C. M., Mountain, J., Sherwin, J., Oddy, W., Coroneo, M. T. C., Lucas, R. & Mackey, D., Jul 2014, In : Investigative Ophthalmology and Visual Science. 55, 7, p. 4552-4559

Research output: Contribution to journalArticle

Open Access
Myopia
Vitamin D
Young Adult
Serum
Calcifediol
3 Citations (Scopus)

Profile of ocular trauma in the Solomon Islands

Baker, M. L., Painter, G. T., Hewitt, A., Amirul Islam, F. M., Szetu, J. L., Qalo, M. & Keeffe, J. E., 2014, In : Clinical and Experimental Ophthalmology. 42, 5, p. 440-446

Research output: Contribution to journalArticle

Melanesia
Wounds and Injuries
Monocular Vision
Keratitis
Burns
17 Citations (Scopus)

Replication of genetic loci implicated in diabetic retinopathy

McAuley, A. K., Wang, J. J., Dirani, M., Connell, P. P., Lamoureux, E. & Hewitt, A. W., Mar 2014, In : Investigative ophthalmology & visual science. 55, 3, p. 1666-1671 6 p.

Research output: Contribution to journalArticle

Open Access