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

    6009 Perth

    Australia

  • 5740 Citations
  • 40 h-Index
20052019
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Research Output 2005 2019

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Article
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
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
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
149 Citations (Scopus)

A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

Hysi, P. G., Young, T. L., Mackey, D., Andrew, T., Fernandez-Medarde, A., Solouki, A. M., Hewitt, A. W., Macgregor, S., Vingerling, J. R., Li, Y. J., Ikram, M. K., Fai, L. Y., Sham, P. C., Manyes, L., Porteros, A., Lopes, M. C., Carbonaro, F., Fahy, S. J., Martin, N. G., Van Duijn, C. M. & 5 othersSpector, T. D., Rahi, J. S., Santos, E., Klaver, C. C. W. & Hammond, C. J., 2010, In : Nature Genetics. 42, p. 902-+

Research output: Contribution to journalArticle

3 Citations (Scopus)

A geometric morphometric assessment of hand shape and comparison to the 2D: 4D digit ratio as a marker of sexual dimorphism

Sanfilippo, P. G., Hewitt, A., Mountain, J. & Mackey, D., Apr 2013, In : Twin Research and Human Genetics. 16, 2, p. 590-600

Research output: Contribution to journalArticle

Open Access
Twin Studies
Learning Curve
Sex Characteristics
Internet
Software
12 Citations (Scopus)

A geometric morphometric assessment of the optic cup in glaucoma

Sanfilippo, P. G., Cardini, A., Sigal, I. A., Ruddle, J. B., Chua, B. E., Hewitt, A. W. & Mackey, D., 2010, In : Experimental Eye Research. 91, p. 405-414

Research output: Contribution to journalArticle

54 Citations (Scopus)

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

Glaucoma
Case-Control Studies
Genes
Tasmania
Mutation
16 Citations (Scopus)

A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

Hewitt, A. W., Bennett, S. L., Dimasi, D. P., Craig, J. E. & Mackey, D., 2006, In : American Journal of Ophthalmology. 141, 2, p. 402-403

Research output: Contribution to journalArticle

Homozygote
Glaucoma
Phenotype
Mutation
Optic Disk
5 Citations (Scopus)

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

Gharahkhani, P., Burdon, K. P., Cooke Bailey, J. N., Hewitt, A. W., Law, M. H., Pasquale, L. R., Kang, J. H., Haines, J. L., Souzeau, E., Zhou, T., Siggs, O. M., Landers, J., Awadalla, M., Sharma, S., Mills, R. A., Ridge, B., Lynn, D., Casson, R., Graham, S. L., Goldberg, I. & 45 othersWhite, A., Healey, P. R., Grigg, J., Lawlor, M., Mitchell, P., Ruddle, J., Coote, M., Walland, M., Best, S., Vincent, A., Gale, J., Radfordsmith, G., Whiteman, D. C., Montgomery, G. W., Martin, N. G., MacKey, D. A., Wiggs, J. L., MacGregor, S., Craig, J. E., Allingham, R. R., Brilliant, M., Budenz, D. L., Fingert, J. H., Gaasterland, D., Gaasterland, T., Hark, L., Hauser, M., Igo, R. P., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Moroi, S., Pericak-Vance, M., Realini, A., Rhee, D., Richards, J. E., Ritch, R., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G. & Zack, D. J., 1 Dec 2018, In : Scientific Reports. 8, 1, 3124.

Research output: Contribution to journalArticle

Open Access
Open Angle Glaucoma
Glaucoma
Genome-Wide Association Study
Eye Diseases
Chromosome Mapping
125 Citations (Scopus)

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

Protein-Lysine 6-Oxidase
Penetrance
Exfoliation Syndrome
Ciliary Body
Iris
4 Citations (Scopus)

A need for better understanding is the major determinant for public perceptions of human gene editing

McCaughey, T., Budden, D. M., Sanfilippo, P. G., Gooden, G. E. C., Fan, L., Fenwick, E., Rees, G., Macgregor, C., Si, L., Chen, C., Liang, H. H., Pébay, A., Baldwin, T. & Hewitt, A. W., 10 Jan 2019, In : Human Gene Therapy. 30, 1, p. 36-43 8 p.

Research output: Contribution to journalArticle

Social Responsibility
Clustered Regularly Interspaced Short Palindromic Repeats
Public Opinion
CRISPR-Cas Systems
Demography
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
46 Citations (Scopus)

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Souma, T., Tompson, S. W., Thomson, B. R., Siggs, O. M., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K. N., Maurer-Stroh, S., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D., Finzi, S., Mauri, L., Javadiyan, S., Souzeau, E., Zhou, T., Hewitt, A., Kloss, B. & 15 othersBurdon, K. P., Mackey, D., Allen, K. F., Ruddle, J. B., Lim, S. H., Rozen, S., Tran-Viet, K. N., Liu, X., John, S., Wiggs, J. L., Pasutto, F., Craig, J. E., Jin, J., Quaggin, S. E. & Young, T. L., Jul 2016, In : Journal of Clinical Investigation. 126, 7, p. 2575-2587

Research output: Contribution to journalArticle

Open Access
Angiopoietins
Glaucoma
Mutation
Anterior Chamber
Intraocular Pressure

Application of a high-throughput genotyping method for loci exclusion in non-consanguineous Australian pedigrees with autosomal recessive retinitis pigmentosa

Paterson, R. L., De Roach, J. N., Mclaren, T. L., Hewitt, A., Hoffmann, L. & Lamey, T. M., 2012, In : Molecular Vision. 18, p. 2043

Research output: Contribution to journalArticle

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
22 Citations (Scopus)

Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study

Cuellar-Partida, G., Lu, Y., Kho, P. F., Hewitt, A. W., Wichmann, H. E., Yazar, S., Stambolian, D., Bailey-Wilson, J. E., Wojciechowski, R., Wang, J. J., Mitchell, P., Mackey, D. & Macgregor, S., 2016, In : Genetic Epidemiology. 40, 1, p. 66-72

Research output: Contribution to journalArticle

Myopia
Genetic Predisposition to Disease
Random Allocation
Education
Observational Studies
9 Citations (Scopus)

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration

Cuellar-Partida, G., Craig, J. E., Burdon, K. P., Wang, J. J., Vote, B. J., Souzeau, E., Mcallister, I. L., Isaacs, T., Lake, S., Mackey, D. A., Constable, I. J., Mitchell, P., Hewitt, A. W. & Macgregor, S., 31 May 2016, In : Scientific Reports. 6, p. 1-6 26885.

Research output: Contribution to journalArticle

Open Access
Macular Degeneration
Genome
Genome-Wide Association Study
Blindness
Primary Open Angle Glaucoma
23 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

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
Optic Disk
Obstructive Sleep Apnea
Young Adult
Nerve Fibers
Glaucoma
12 Citations (Scopus)

Associations of birth weight with ocular biometry, refraction, and glaucomatous endophenotypes: the Australian Twin Eye Study

Sun, C., Ponsonby, A-L., Brown, S. A., Kearns, L. S., Mackinnon, J. R., Barbour, J. R., Ruddle, J. B., Hewitt, A. W., Wright, M. J., Martin, N. G., Dwyer, T. & Mackey, D., 2010, In : American Journal of Ophthalmology. 150, 6, p. 909-916

Research output: Contribution to journalArticle

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

6 Citations (Scopus)

Automated volumetric evaluation of stereoscopic disc photography

Xu, J., Ishikawa, H., Wollstein, G., Bilonick, R. A., Kagemann, L., Craig, J. E., Mackey, D. A., Hewitt, A. W. & Schuman, J. S., 24 May 2010, In : Optics Express. 18, 11, p. 11347-11359 13 p.

Research output: Contribution to journalArticle

photography
evaluation
optics
photogrammetry
nerves
78 Citations (Scopus)

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

Cohn, A. C., Toomes, C., Potter, C., Towns, K. V., Hewitt, A. W., Inglehearn, C. F., Craig, J. E. & Mackey, D., 2007, In : American Journal of Ophthalmology. 143, 4, p. 656-662

Research output: Contribution to journalArticle

Autosomal Dominant Optic Atrophy
Penetrance
Pedigree
Mutation
Siblings
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
10 Citations (Scopus)

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)

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

97 Citations (Scopus)

Central corneal thickness is highly heritable: The twin eye studies

Toh, T., Liew, S. H. M., Mackinnon, J. R., Hewitt, A. W., Poulsen, J. L., Spector, T. D., Gilbert, C. E., Craig, J. E., Hammond, C. J. & Mackey, D., 2005, In : Investigative Ophthalmology and Visual Science. 46, 10, p. 3718-3722

Research output: Contribution to journalArticle

Twin Studies
Dizygotic Twins
Monozygotic Twins
Corneal Pachymetry
Tasmania
19 Citations (Scopus)

Classification of iris colour: review and refinement of a classification schema

Mackey, D., Wilkinson, C. H., Kearns, L. S. & Hewitt, A. W., 2011, In : Clinical and Experimental Ophthalmology. 39, p. 462-471

Research output: Contribution to journalArticle

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
107 Citations (Scopus)

Common genetic determinants of intraocular pressure and primary open-angle Glaucoma

Van Koolwijk, L. M. E., Ramdas, W. D., Ikram, M. K., Jansonius, N. M., Pasutto, F., Hysi, P. G., Macgregor, S., Janssen, S. F., Hewitt, A., Viswanathan, A. C., Ten Brink, J. B., Hosseini, S. M., Amin, N., Despriet, D. D. G., Willemse-Assink, J. J. M., Kramer, R., Rivadeneira, F., Struchalin, M., Aulchenko, Y. S., Weisschuh, N. & 29 othersZenkel, M., Mardin, C. Y., Gramer, E., Welge-Lüssen, U., Montgomery, G. W., Carbonaro, F., Young, T. L., Bellenguez, C., Mcguffin, P., Foster, P. J., Topouzis, F., Mitchell, P., Wang, J. J., Wong, T. Y., Czudowska, M. A., Hofman, A., Uitterlinden, A. G., Wolfs, R. C. W., De Jong, P. T. V. M., Oostra, B. A., Paterson, A. D., Mackey, D., Bergen, A. A. B., Reis, A., Hammond, C. J., Vingerling, J. R., Lemij, H. G., Klaver, C. C. W. & Van Duijn, C. M., 2012, In : PLoS Genetics. 8, 5, p. 14pp

Research output: Contribution to journalArticle

Open Access
88 Citations (Scopus)

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

Lu, Y., Dimasi, D. P., Hysi, P. G., Hewitt, A. W., Burdon, K. P., Toh, T., Ruddle, J. B., Li, Y. J., Mitchell, P., Healey, P. R., Montgomery, G. W., Hansell, N., Spector, T. D., Martin, N. G., Young, T. L., Hammond, C. J., Macgregor, S., Craig, J. E. & Mackey, D., 2010, In : PLoS Genetics. 6, p. -

Research output: Contribution to journalArticle

Open Access
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

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
252 Citations (Scopus)

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

Thorleifsson, G., Walters, G. B., Hewitt, A. W., Masson, G., Helgason, A., Dewan, A., Sigurdsson, A., Jonasdottir, A., Gudjonsson, S. A., Magnusson, K. P., Stefansson, H., Lam, D. S. C., Tam, P. O. S., Gudmundsdottir, G. J., Southgate, L., Burdon, K. P., Gottfredsdottir, M. S., Aldred, M. A., Mitchell, P., St Clair, D. & 27 othersCollier, D. A., Tang, N., Sveinsson, O., Macgregor, S., Martin, N. G., Cree, A. J., Gibson, J., Macleod, A., Jacob, A., Ennis, S., Young, T. L., Chan, J. C. N., Karwatowski, W. S. S., Hammond, C. J., Thordarson, K., Zhang, M., Wadelius, C., Lotery, A. J., Trembath, R. C., Pang, C. P., Hoh, J., Craig, J. E., Kong, A., Mackey, D., Jonasson, F., Thorsteinsdottir, U. & Stefansson, K., 2010, In : Nature Genetics. 42, p. 906-+

Research output: Contribution to journalArticle

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
61 Citations (Scopus)

Complex genetics of complex traits: the case of primary open-angle glaucoma

Hewitt, A. W., Craig, J. E. & Mackey, D., 2006, In : Clinical and Experimental Ophthalmology. 34, 5, p. 472-484

Research output: Contribution to journalArticle

Genetic Predisposition to Disease
Natural History
Glaucoma
Population
Genes
5 Citations (Scopus)
158 Downloads (Pure)

Contribution of mutations in known mendelian glaucoma genes to advanced early-onset primary open-angle glaucoma

Zhou, T., Souzeau, E., Siggs, O. M., Landers, J., Mills, R., Goldberg, I., Healey, P. R., Graham, S., Hewitt, A. W., Mackey, D., Galanopoulos, A., Casson, R. J., Ruddle, J. B., Ellis, J., Leo, P., Brown, M. A., Macgregor, S., Sharma, S., Burdon, K. P. & Craig, J. E., 1 Mar 2017, In : Investigative Ophthalmology and Visual Science. 58, 3, p. 1537-1544 8 p.

Research output: Contribution to journalArticle

Open Access
File
Glaucoma
Mutation
Genes
Exome
Primary Open Angle Glaucoma
7 Citations (Scopus)

Copy number variation at chromosome 5q21.2 is associated with intra-ocular pressure

Nag, A., Venturini, C., Hysi, PG., Arno, M., Aldecoa-Otalora Astarloa, E., Macgregor, S., Hewitt, A., Young, TL., Mitchell, P., Viswanathan, AC., Mackey, D. & Hammond, CJ., 2013, In : Investigative ophthalmology & visual science. 54, p. 3607-3612

Research output: Contribution to journalArticle

Open Access
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
7 Citations (Scopus)

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Iglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., Höhn, R., Springelkamp, H., Cuellar-Partida, G., Gharahkhani, P., Bailey, J. N. C., Willoughby, C. E., Li, X., Yazar, S., Nag, A., Khawaja, A. P., Polašek, O., Siscovick, D., Mitchell, P., Tham, Y. C., Haines, J. L., Kearns, L. S. & 124 othersHayward, C., Shi, Y., Van Leeuwen, E. M., Taylor, K. D., Wang, J. J., Rochtchina, E., Attia, J., Scott, R., Holliday, E. G., Baird, P. N., Xie, J., Inouye, M., Viswanathan, A., Sim, X., Bonnemaijer, P., Rotter, J. I., Martin, N. G., Zeller, T., Mills, R. A., Staffieri, S. E., Jonas, J. B., Schmidtmann, I., Boutin, T., Kang, J. H., Lucas, S. E. M., Wong, T. Y., Beutel, M. E., Wilson, J. F., Allingham, R. R., Brilliant, M. H., Budenz, D. L., Christen, W. G., Fingert, J., Friedman, D. S., Gaasterland, D., Gaasterland, T., Hauser, M. A., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Loomis, S. J., Moroi, S. E., Pericak-Vance, M. A., Realini, A., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Weinreb, R. N., Wollstein, G., Zack, D. J., Zhang, K., Donnelly, P., 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., Rautanen, A., Sawcer, S. J., Trembath, R. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R., Strange, A., Su, Z., Vukcevic, D., Langford, C., Hunt, S. E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Uitterlinden, A. G., Vithana, E. N., Foster, P. J., Hysi, P. G., Hewitt, A. W., Khor, C. C., Pasquale, L. R., Montgomery, G. W., Klaver, C. C. W., Aung, T., Pfeiffer, N., MacKey, D. A., Hammond, C. J., Cheng, C. Y., Craig, J. E., Rabinowitz, Y. S., Wiggs, J. L., Burdon, K. P., Van Duijn, C. M. & MacGregor, S., 1 Dec 2018, In : Nature Communications. 9, 1, 1864.

Research output: Contribution to journalArticle

Open Access
eye diseases
Eye Diseases
genome
Genome-Wide Association Study
Keratoconus

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
Open Access
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
79 Citations (Scopus)
231 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

32 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

Glaucoma
Tasmania
Optic Disk
Visual Fields
Intraocular Pressure