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

    6009 Perth

    Australia

  • 5671 Citations
  • 39 h-Index
20052019
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Research Output 2005 2019

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Article
2019
2 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
Optic Disk
Obstructive Sleep Apnea
Young Adult
Nerve Fibers
Glaucoma

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

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology

Han, X., Qassim, A., An, J., Marshall, H., Zhou, T., Ong, J. S., Hassall, M. M., Hysi, P. G., Foster, P. J., Khaw, P. T., Mackey, D. A., Gharahkhani, P., Khawaja, A. P., Hewitt, A. W., Craig, J. E. & MacGregor, S., 1 Nov 2019, In : Human Molecular Genetics. 28, 21, p. 3680-3690 11 p.

Research output: Contribution to journalArticle

Genome-Wide Association Study
Optic Disk
Glaucoma
Genes
Nerve Tissue
11 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
2 Citations (Scopus)

Molecular aspects of eye development and regeneration in the Australian redclaw crayfish, Cherax quadricarinatus

Ventura, T., Stewart, M. J., Chandler, J. C., Rotgans, B., Elizur, A. & Hewitt, A. W., 1 Jan 2019, In : Aquaculture and Fisheries. 4, 1, p. 27-36 10 p.

Research output: Contribution to journalArticle

Open Access
Cherax quadricarinatus
crayfish
regeneration
eyes
compound eyes

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
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

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
3 Citations (Scopus)

Prevalence of FOXC1 Variants in Individuals with a Suspected Diagnosis of Primary Congenital Glaucoma

Siggs, O. M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J. E. H., Taranath, D., Pater, J., Rait, J. L., Narita, A., Mauri, L., Del Longo, A., Reis, A., Chappell, A., Kearns, L. S., Staffieri, S. E., Elder, J. E., Ruddle, J. B., Hewitt, A. W., Burdon, K. P., Mackey, D. A. & 1 othersCraig, J. E., 1 Apr 2019, In : JAMA Ophthalmology. 137, 4, p. 348-355 8 p.

Research output: Contribution to journalArticle

Open Access
Glaucoma
Exome
Genetic Heterogeneity
Multiplex Polymerase Chain Reaction
Ophthalmology

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
2018
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
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
Open Access
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
39 Citations (Scopus)

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

CREAM, 23andMe Research Team & UK Biobank Eye and Vision Consortium, 1 Jun 2018, In : Nature Genetics. 50, 6, p. 834-848 15 p.

Research output: Contribution to journalArticle

Open Access
Refractive Errors
Genome-Wide Association Study
Meta-Analysis
Light
Retina
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
2 Citations (Scopus)

Genome-wide association study identifies a susceptibility locus for comitant esotropia and suggests a parent-of-origin effect

Strabismus Genetics Research Consortium, 1 Aug 2018, In : Investigative Ophthalmology and Visual Science. 59, 10, p. 4054-4064 11 p.

Research output: Contribution to journalArticle

Open Access
Esotropia
Genome-Wide Association Study
Odds Ratio
Meta-Analysis
Strabismus
16 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
16 Citations (Scopus)

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

MacGregor, S., Ong, J-S., An, J., Han, X., Zhou, T., Siggs, O. M., Law, M. H., Souzeau, E., Sharma, S., Lynn, D. J., Beesley, J., Sheldrick, B., Mills, R. A., Landers, J., Ruddle, J. B., Graham, S. L., Healey, P. R., White, A. J. R., Casson, R. J., Best, S. & 12 othersGrigg, J. R., Goldberg, I., Powell, J. E., Whiteman, D. C., Radford-Smith, G. L., Martin, N. G., Montgomery, G. W., Burdon, K. P., Mackey, D. A., Gharahkhani, P., Craig, J. E. & Hewitt, A. W., Aug 2018, In : Nature Genetics. 50, 8, p. 1067-+ 9 p.

Research output: Contribution to journalArticle

Open Access
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

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
10 Citations (Scopus)

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Melanoma GWAS Consortium, 1 Dec 2018, In : Nature Communications. 9, 1, 4774.

Research output: Contribution to journalArticle

Open Access
Nevi and Melanomas
loci
Nevus
Melanoma
genes
3 Citations (Scopus)
Open Access
74 Citations (Scopus)

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Turcot, V., Lu, Y., Highland, H. M., Schurmann, C., Justice, A. E., Fine, R. S., Bradfield, J. P., Esko, T., Giri, A., Graff, M., Guo, X., Hendricks, A. E., Karaderi, T., Lempradl, A., Locke, A. E., Mahajan, A., Marouli, E., Sivapalaratnam, S., Young, K. L., Alfred, T. & 230 othersFeitosa, M. F., Masca, N. G. D., Manning, A. K., Medina-Gomez, C., Mudgal, P., Ng, M. C. Y., Reiner, A. P., Vedantam, S., Willems, S. M., Winkler, T. W., Abecasis, G., Aben, K. K., Alam, D. S., Alharthi, S. E., Allison, M., Amouyel, P., Asselbergs, F. W., Auer, P. L., Balkau, B., Bang, L. E., Barroso, I., Bastarache, L., Benn, M., Bergmann, S., Bielak, L. F., Blüher, M., Boehnke, M., Boeing, H., Boerwinkle, E., Böger, C. A., Bork-Jensen, J., Bots, M. L., Bottinger, E. P., Bowden, D. W., Brandslund, I., Breen, G., Brilliant, M. H., Broer, L., Brumat, M., Burt, A. A., Butterworth, A. S., Campbell, P. T., Cappellani, S., Carey, D. J., Catamo, E., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y. D. I., Chowdhury, R., Christensen, C., Chu, A. Y., Cocca, M., Collins, F. S., Cook, J. P., Corley, J., Corominas Galbany, J., Cox, A. J., Crosslin, D. S., Cuellar-Partida, G., D'Eustacchio, A., Danesh, J., Davies, G., Bakker, P. I. W., Groot, M. C. H., Mutsert, R., Deary, I. J., Dedoussis, G., Demerath, E. W., Heijer, M., Hollander, A. I., Ruijter, H. M., Dennis, J. G., Denny, J. C., Angelantonio, E., Drenos, F., Du, M., Dubé, M. P., Dunning, A. M., Easton, D. F., Edwards, T. L., Ellinghaus, D., Ellinor, P. T., Elliott, P., Evangelou, E., Farmaki, A. E., Farooqi, I. S., Faul, J. D., Fauser, S., Feng, S., Ferrannini, E., Ferrieres, J., Florez, J. C., Ford, I., Fornage, M., Franco, O. H., Franke, A., Franks, P. W., Friedrich, N., Frikke-Schmidt, R., Galesloot, T. E., Gan, W., Gandin, I., Gasparini, P., Gibson, J., Giedraitis, V., Gjesing, A. P., Gordon-Larsen, P., Gorski, M., Grabe, H. J., Grant, S. F. A., Grarup, N., Griffiths, H. L., Grove, M. L., Gudnason, V., Gustafsson, S., Haessler, J., Hakonarson, H., Hammerschlag, A. R., Hansen, T., Harris, K. M., Harris, T. B., Hattersley, A. T., Have, C. T., Hayward, C., He, L., Heard-Costa, N. L., Heath, A. C., Heid, I. M., Helgeland, Ø., Hernesniemi, J., Hewitt, A. W., Holmen, O. L., Hovingh, G. K., Howson, J. M. M., Hu, Y., Huang, P. L., Huffman, J. E., Ikram, M. A., Ingelsson, E., Jackson, A. U., Jansson, J. H., Jarvik, G. P., Jensen, G. B., Jia, Y., Johansson, S., Jørgensen, M. E., Jørgensen, T., Jukema, J. W., Kahali, B., Kahn, R. S., Kähönen, M., Kamstrup, P. R., Kanoni, S., Kaprio, J., Karaleftheri, M., Kardia, S. L. R., Karpe, F., Kathiresan, S., Kee, F., Kiemeney, L. A., Kim, E., Kitajima, H., Komulainen, P., Kooner, J. S., Kooperberg, C., Korhonen, T., Kovacs, P., Kuivaniemi, H., Kutalik, Z., Kuulasmaa, K., Kuusisto, J., Laakso, M., Lakka, T. A., Lamparter, D., Lange, E. M., Lange, L. A., Langenberg, C., Larson, E. B., Lee, N. R., Lehtimäki, T., Lewis, C. E., Li, H., Li, J., Li-Gao, R., Lin, H., Lin, K. H., Lin, L. A., Lin, X., Lind, L., Lindström, J., Linneberg, A., Liu, C. T., Liu, D. J., Liu, Y., Lo, K. S., Lophatananon, A., Lotery, A. J., Loukola, A., Luan, JA., Lubitz, S. A., Lyytikäinen, L. P., Männistö, S., Marenne, G., Mazul, A. L., McCarthy, M. I., McKean-Cowdin, R., Medland, S. E., Meidtner, K., Milani, L., Mistry, V., Mitchell, P., Mohlke, K. L., Moilanen, L., Moitry, M., Montgomery, G. W., Mook-Kanamori, D. O., Moore, C., Mori, T. A., Morris, A. D., Morris, A. P., Müller-Nurasyid, M., Munroe, P. B., Nalls, M. A., Nielsen, S. F., Pennell, C. E., Roberts, D. J., Wang, C. A., Wilson, J. G. & Zhou, W., 1 Jan 2018, In : Nature Genetics. 50, 1, p. 26-35 10 p.

Research output: Contribution to journalArticle

Open Access
Energy Intake
Energy Metabolism
Body Mass Index
Obesity
Genes
4 Citations (Scopus)

Retinal genes are differentially expressed in areas of primary versus secondary degeneration following partial optic nerve injury

Chiha, W., LeVaillant, C. J., Bartlett, C. A., Hewitt, A. W., Melton, P. E., Fitzgerald, M. & Harvey, A. R., 1 Feb 2018, In : PLoS One. 13, 2, e0192348.

Research output: Contribution to journalArticle

Open Access
Optic Nerve Injuries
optics
retina
Retina
Optics
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
2 Citations (Scopus)

Testosterone pathway genetic polymorphisms in relation to primary open-angle glaucoma: An analysis in two large datasets

Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium, 1 Feb 2018, In : Investigative Ophthalmology and Visual Science. 59, 2, p. 629-636 8 p.

Research output: Contribution to journalArticle

Open Access
Genetic Polymorphisms
Testosterone
Genes
Single Nucleotide Polymorphism
Low Tension Glaucoma
2017
12 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
5 Citations (Scopus)
153 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
6 Citations (Scopus)
145 Downloads (Pure)

DNA methylation landscape of ocular tissue relative to matched peripheral blood

Hewitt, A. W., Januar, V., Sexton-Oates, A., Joo, J. E., Franchina, M., Wang, J. J., Liang, H., Craig, J. E. & Saffery, R., 13 Apr 2017, In : Scientific Reports. 7, 46330.

Research output: Contribution to journalArticle

Open Access
File
DNA Methylation
Methylation
Epigenomics
Nerve Tissue
Choroid
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
18 Citations (Scopus)
111 Downloads (Pure)

Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study

Cuellar-Partida, G., Williams, K. M., Yazar, S., Guggenheim, J. A., Hewitt, A. W., Williams, C., Wang, J. J., Kho, P-F., Saw, S. M., Cheng, C. Y., Wong, T. Y., Aung, T., Young, T. L., Tideman, J. W. L., Jonas, J. B., Mitchell, P., Wojciechowski, R., Stambolian, D., Hysi, P. G., Hammond, C. J. & 4 othersMackey, D. A., Lucas, R. M., MacGregor, S. & Consortium for Refractive Error and Myopia (CREAM), 1 Dec 2017, In : International Journal of Epidemiology. 46, 6, p. 1882–1890

Research output: Contribution to journalArticle

Open Access
File
Refractive Errors
Myopia
Random Allocation
Vitamin D
Genome-Wide Association Study
24 Citations (Scopus)
143 Downloads (Pure)

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

International AMD Genomics Consortium (IAMDGC), 27 Mar 2017, In : Genome Medicine. 9, 1, 29.

Research output: Contribution to journalArticle

Open Access
File
Genetic Pleiotropy
Macular Degeneration
Autoimmune Diseases
Lipid Metabolism Disorders
Genome
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

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

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

Research output: Contribution to journalArticle

Open Access
Melanesia
Endophenotypes
Genome-Wide Association Study
Intraocular Pressure
Pedigree
11 Citations (Scopus)

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Souzeau, E., Siggs, O. M., Zhou, T., Galanopoulos, A., Hodson, T., Taranath, D., Mills, R. A., Landers, J., Pater, J., Smith, J. E., Elder, J. E., Rait, J. L., Giles, P., Phakey, V., Staffieri, S. E., Kearns, L. S., Dubowsky, A., Mackey, D. A., Hewitt, A. W., Ruddle, J. B. & 2 othersBurdon, K. P. & Craig, J. E., Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 839-847 9 p.

Research output: Contribution to journalArticle

Open Access
Glaucoma
Penetrance
Multiplex Polymerase Chain Reaction
Genetic Counseling
Anterior Chamber
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
15 Citations (Scopus)

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy

Wong, R. C. B., Lim, S. Y., Hung, S. S. C., Jackson, S., Khan, S., Van Bergen, N. J., De Smit, E., Liang, H., Kearns, L. S., Clarke, L., Mackey, D. A., Hewitt, A. W., Trounce, I. A. & Pébay, A., Apr 2017, In : Aging. 9, 4, p. 1341-1350 10 p.

Research output: Contribution to journalArticle

Open Access
Leber's Hereditary Optic Atrophy
Induced Pluripotent Stem Cells
Mitochondrial DNA
Mutation
Retinal Ganglion Cells
7 Citations (Scopus)
159 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
37 Citations (Scopus)
146 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
184 Citations (Scopus)
197 Downloads (Pure)

Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., Rüeger, S., Thorleifsson, G., Justice, A. E., Lamparter, D., Stirrups, K. E., Turcot, V., Young, K. L., Winkler, T. W., Esko, T., Karaderi, T. & 239 othersLocke, A. E., Masca, N. G. D., Ng, M. C. Y., Mudgal, P., Rivas, M. A., Vedantam, S., Mahajan, A., Guo, X., Abecasis, G., Aben, K. K., Adair, L. S., Alam, D. S., Albrecht, E., Allin, K. H., Allison, M., Amouyel, P., Appel, E. V. R., Arveiler, D., Asselbergs, F. W., Auer, P. L., Balkau, B., Banas, B., Bang, L. E., Benn, M., Bergmann, S., Bielak, L. F., Blüher, M., Boeing, H., Boerwinkle, E., Böger, C. A., Bonnycastle, L. L., Bork-Jensen, J., Bots, M. L., Bottinger, E. P., Bowden, D. W., Brandslund, I., Breen, G., Brilliant, M. H., Broer, L., Burt, A. A., Butterworth, A. S., Carey, D. J., Caulfield, M. J., Chambers, J. C., Chasman, D. I., Chen, Y. D. I., Chowdhury, R., Christensen, C., Chu, A. Y., Cocca, M., Collins, F. S., Cook, J. P., Corley, J., Galbany, J. C., Cox, A. J., Cuellar-Partida, G., Danesh, J., Davies, G., De Bakker, P. I. W., De Borst, G. J., De Denus, S., De Groot, M. C. H., De Mutsert, R., Deary, I. J., Dedoussis, G. V., Demerath, E. W., Den Hollander, A. I., Dennis, J. G., Di Angelantonio, E., Drenos, F., Du, M., Dunning, A. M., Easton, D. F., Ebeling, T., Edwards, T. L., Ellinor, P. T., Elliott, P., Evangelou, E., Farmaki, A. E., Faul, J. D., Feitosa, M. F., Feng, S., Ferrannini, E., Ferrario, M. M., Ferrieres, J., Florez, J. C., Ford, I., Fornage, M., Franks, P. W., Frikke-Schmidt, R., Galesloot, T. E., Gan, W., Gandin, I., Gasparini, P., Giedraitis, V., Giri, A., Girotto, G., Gordon, S. D., Gordon-Larsen, P., Gorski, M., Grarup, N., Grove, M. L., Gudnason, V., Gustafsson, S., Hansen, T., Harris, K. M., Harris, T. B., Hattersley, A. T., Hayward, C., He, L., Heid, I. M., Heikkilä, K., Helgeland, Ø., Hernesniemi, J., Hewitt, A. W., Hocking, L. J., Hollensted, M., Holmen, O. L., Hovingh, G. K., Howson, J. M. M., Hoyng, C. B., Huang, P. L., Hveem, K., Ikram, M. A., Ingelsson, E., Jackson, A. U., Jansson, J. H., Jarvik, G. P., Jensen, G. B., Jhun, M. A., Jia, Y., Jiang, X., Johansson, S., Jørgensen, M. E., Jørgensen, T., Jousilahti, P., Jukema, J. W., Kahali, B., Kahn, R. S., Kähönen, M., Kamstrup, P. R., Kanoni, S., Kaprio, J., Karaleftheri, M., Kardia, S. L. R., Karpe, F., Kee, F., Keeman, R., Kiemeney, L. A., Kitajima, H., Kluivers, K. B., Kocher, T., Komulainen, P., Kontto, J., Kooner, J. S., Kooperberg, C., Kovacs, P., Kriebel, J., Kuivaniemi, H., Küry, S., Kuusisto, J., La Bianca, M., Laakso, M., Lakka, T. A., Lange, E. M., Lange, L. A., Langefeld, C. D., Langenberg, C., Larson, E. B., Lee, I. T., Lehtimäki, T., Lewis, C. E., Li, H., Li, J., Li-Gao, R., Lin, H., Lin, L. A., Lin, X., Lind, L., Lindström, J., Linneberg, A., Liu, Y., Liu, Y., Lophatananon, A., Luan, JA., Lubitz, S. A., Lyytikäinen, L. P., Mackey, D., Madden, P. A. F., Manning, A. K., Männistö, S., Marenne, G., Marten, J., Martin, N. G., Mazul, A. L., Meidtner, K., Metspalu, A., Mitchell, P., Mohlke, K. L., Mook-Kanamori, D. O., Morgan, A., Morris, A. D., Morris, A. P., Müller-Nurasyid, M., Munroe, P. B., Nalls, M. A., Nauck, M., Nelson, C. P., Neville, M., Nielsen, S. F., Nikus, K., Njølstad, P. R., Nordestgaard, B. G., Ntalla, I., O'Connel, J. R., Oksa, H., Loohuis, L. M. O., Ophoff, R. A., Owen, K. R., Packard, C. J., Padmanabhan, S., Palmer, C. N. A., Pasterkamp, G., Patel, A. P., Pattie, A., Pedersen, O., Peissig, P. L., Peloso, G. M., Pennell, C. E., Wang, C. A., MAGIC Investigators, The EPIC-InterAct Consortium, EPIC-CVD Consortium, CHD Exome+ Consortium, ExomeBP Consortium, T2D-Genes Consortium, GoT2D Genes Consortium, Global Lipids Genetics Consortium & ReproGen Consortium, 9 Feb 2017, In : Nature. 542, 7640, p. 186-190 5 p.

Research output: Contribution to journalArticle

Open Access
File
Genes
Alleles
Insulin-Like Growth Factor Binding Protein 4
Pregnancy-Associated Plasma Protein-A
Growth Disorders
4 Citations (Scopus)
95 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
3 Citations (Scopus)

The Ark: a customizable web-based data management tool for health and medical research

Bickerstaffe, A., Ranaweera, T., Endersby, T., Ellis, C., Maddumarachchi, S., Gooden, G. E., White, P., Moses, E. K., Hewitt, A. W. & Hopper, J. L., 15 Feb 2017, In : Bioinformatics. 33, 4, p. 624-626 3 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
146 Downloads (Pure)
Open Access
File
Routine Diagnostic Tests
Patient Care Management
Population
Clinical Decision-Making
5 Citations (Scopus)
140 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
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
45 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
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