Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
MacGregor, Stuart, Ong, Jue-Sheng, An, Jiyuan, Han, Xikun, Zhou, Tiger, Siggs, Owen M., Law, Matthew H., Souzeau, Emmanuelle, Sharma, Shiwani, Lynn, David J., Beesley, Jonathan, Sheldrick, Bronwyn, Mills, Richard A., Landers, John, Ruddle, Jonathan B., Graham, Stuart L., Healey, Paul R., White, Andrew J. R., Casson, Robert J., Best, Stephen, Grigg, John R, Goldberg, Ivan, Powell, Joseph E., Whiteman, David C., Radford-Smith, Graham L., Martin, Nicholas G., Montgomery, Grant W., Burdon, Kathryn P., Mackey, David A., Gharahkhani, Puya, Craig, Jamie E., Hewitt, Alex W.
Published in Nature genetics (01.08.2018)
Published in Nature genetics (01.08.2018)
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Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy
Van Bergen, Nicole J, Crowston, Jonathan G, Craig, Jamie E, Burdon, Kathryn P, Kearns, Lisa S, Sharma, Shiwani, Hewitt, Alex W, Mackey, David A, Trounce, Ian A
Published in PloS one (23.10.2015)
Published in PloS one (23.10.2015)
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Corneal Stiffness Parameters Are Predictive of Structural and Functional Progression in Glaucoma Suspect Eyes
Qassim, Ayub, Mullany, Sean, Abedi, Farshad, Marshall, Henry, Hassall, Mark M., Kolovos, Antonia, Knight, Lachlan S.W., Nguyen, Thi, Awadalla, Mona S., Chappell, Angela, Schulz, Angela M., Galanopoulos, Anna, Agar, Ashish, Healey, Paul R., Hewitt, Alex W., Graham, Stuart L., Landers, John, Casson, Robert J., Siggs, Owen M., Craig, Jamie E.
Published in Ophthalmology (Rochester, Minn.) (01.07.2021)
Published in Ophthalmology (Rochester, Minn.) (01.07.2021)
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Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
Burdon, Kathryn P, Macgregor, Stuart, Hewitt, Alex W, Sharma, Shiwani, Chidlow, Glyn, Mills, Richard A, Danoy, Patrick, Casson, Robert, Viswanathan, Ananth C, Liu, Jimmy Z, Landers, John, Henders, Anjali K, Wood, John, Souzeau, Emmanuelle, Crawford, April, Leo, Paul, Wang, Jie Jin, Rochtchina, Elena, Nyholt, Dale R, Martin, Nicholas G, Montgomery, Grant W, Mitchell, Paul, Brown, Matthew A, Mackey, David A, Craig, Jamie E
Published in Nature genetics (01.06.2011)
Published in Nature genetics (01.06.2011)
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A Systematic Meta-Analysis of Genetic Association Studies for Diabetic Retinopathy
ABHARY, Sotoodeh, HEWITT, Alex W, BURDON, Kathryn P, CRAIG, Jamie E
Published in Diabetes (New York, N.Y.) (01.09.2009)
Published in Diabetes (New York, N.Y.) (01.09.2009)
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Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma
Siggs, Owen M, Qassim, Ayub, Han, Xikun, Marshall, Henry N, Mullany, Sean, He, Weixiong, Souzeau, Emmanuelle, Galanopoulos, Anna, Agar, Ashish, Landers, John, Casson, Robert J, Hewitt, Alex W, Healey, Paul R, Graham, Stuart L, MacGregor, Stuart, Craig, Jamie E
Published in JAMA ophthalmology (01.01.2023)
Published in JAMA ophthalmology (01.01.2023)
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Angiopoietin-1 is required for Schlemm's canal development in mice and humans
Thomson, Benjamin R, Souma, Tomokazu, Tompson, Stuart W, Onay, Tuncer, Kizhatil, Krishnakumar, Siggs, Owen M, Feng, Liang, Whisenhunt, Kristina N, Yanovitch, Tammy L, Kalaydjieva, Luba, Azmanov, Dimitar N, Finzi, Simone, Tanna, Christine E, Hewitt, Alex W, Mackey, David A, Bradfield, Yasmin S, Souzeau, Emmanuelle, Javadiyan, Shari, Wiggs, Janey L, Pasutto, Francesca, Liu, Xiaorong, John, Simon Wm, Craig, Jamie E, Jin, Jing, Young, Terri L, Quaggin, Susan E
Published in The Journal of clinical investigation (01.12.2017)
Published in The Journal of clinical investigation (01.12.2017)
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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry
Knight, Lachlan S.W., Ruddle, Jonathan B., Taranath, Deepa A., Goldberg, Ivan, Smith, James E.H., Gole, Glen, Chiang, Mark Y., Willett, Faren, D’Mellow, Guy, Breen, James, Qassim, Ayub, Mullany, Sean, Elder, James E., Vincent, Andrea L., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Luu, Susie, Siggs, Owen M., Souzeau, Emmanuelle, Craig, Jamie E.
Published in Ophthalmology (Rochester, Minn.) (01.11.2021)
Published in Ophthalmology (Rochester, Minn.) (01.11.2021)
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Journal Article
An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity
Qassim, Ayub, Souzeau, Emmanuelle, Siggs, Owen M., Hassall, Mark M., Han, Xikun, Griffiths, Helen L., Frost, N. Andrew, Vallabh, Neeru A., Kirwan, James F., Menon, Geeta, Cree, Angela J., Galanopoulos, Anna, Agar, Ashish, Healey, Paul R., Graham, Stuart L., Landers, John, Casson, Robert J., Gharahkhani, Puya, Willoughby, Colin E., Hewitt, Alex W., Lotery, Andrew J., MacGregor, Stuart, Craig, Jamie E.
Published in Ophthalmology (Rochester, Minn.) (01.07.2020)
Published in Ophthalmology (Rochester, Minn.) (01.07.2020)
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TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases
Kuot, Abraham, Hewitt, Alex W, Snibson, Grant R, Souzeau, Emmanuelle, Mills, Richard, Craig, Jamie E, Burdon, Kathryn P, Sharma, Shiwani
Published in PloS one (23.08.2017)
Published in PloS one (23.08.2017)
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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma
Fu, Haojie, Siggs, Owen M, Knight, Lachlan Sw, Staffieri, Sandra E, Ruddle, Jonathan B, Birsner, Amy E, Collantes, Edward Ryan, Craig, Jamie E, Wiggs, Janey L, D'Amato, Robert J
Published in The Journal of clinical investigation (01.12.2022)
Published in The Journal of clinical investigation (01.12.2022)
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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
Siggs, Owen M., Souzeau, Emmanuelle, Taranath, Deepa A., Dubowsky, Andrew, Chappell, Angela, Zhou, Tiger, Javadiyan, Shari, Nicholl, Jillian, Kearns, Lisa S., Staffieri, Sandra E., Narita, Andrew, Smith, James E.H., Pater, John, Hewitt, Alex W., Ruddle, Jonathan B., Elder, James E., Mackey, David A., Burdon, Kathryn P., Craig, Jamie E.
Published in Ophthalmology (Rochester, Minn.) (01.06.2020)
Published in Ophthalmology (Rochester, Minn.) (01.06.2020)
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Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse
Hassall, Mark M., Javadiyan, Shari, Klebe, Sonja, Awadalla, Mona S., Sharma, Shiwani, Qassim, Ayub, White, Melissa, Thomas, Paul Q., Craig, Jamie E., Siggs, Owen M.
Published in Scientific reports (07.07.2023)
Published in Scientific reports (07.07.2023)
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SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
Young, Terri L, Whisenhunt, Kristina N, Jin, Jing, LaMartina, Sarah M, Martin, Sean M, Souma, Tomokazu, Limviphuvadh, Vachiranee, Suri, Fatemeh, Souzeau, Emmanuelle, Zhang, Xue, Dan, Yongwook, Anagnos, Evie, Carmona, Susana, Jody, Nicole M, Stangel, Nickie, Higuchi, Emily C, Huang, Samuel J, Siggs, Owen M, Simões, Maria José, Lawson, Brendan M, Martin, Jacob S, Elahi, Elahe, Narooie-Nejad, Mehrnaz, Motlagh, Behzad Fallahi, Quaggin, Susan E, Potter, Heather D, Silva, Eduardo D, Craig, Jamie E, Egas, Conceição, Maroofian, Reza, Maurer-Stroh, Sebastian, Bradfield, Yasmin S, Tompson, Stuart W
Published in Investigative ophthalmology & visual science (07.10.2020)
Published in Investigative ophthalmology & visual science (07.10.2020)
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Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma
Diaz-Torres, Santiago, He, Weixiong, Yu, Regina, Khawaja, Anthony P., Hammond, Christopher J., Hysi, Pirro G., Pasquale, Louis R., Wu, Yeda, Kubo, Michiaki, Akiyama, Masato, Aung, Tin, Cheng, Ching-Yu, Khor, Chiea Chuen, Kraft, Peter, Kang, Jae H., Hewitt, Alex W., Mackey, David A., Craig, Jamie E., Wiggs, Janey L., Ong, Jue-Sheng, MacGregor, Stuart, Gharahkhani, Puya
Published in Nature communications (17.11.2024)
Published in Nature communications (17.11.2024)
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Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell Research
McCaughey, Tristan, Liang, Helena H., Chen, Christine, Fenwick, Eva, Rees, Gwyneth, Wong, Raymond C.B., Vickers, James C., Summers, Mathew J., MacGregor, Casimir, Craig, Jamie E., Munsie, Megan, Pébay, Alice, Hewitt, Alex W.
Published in Cell stem cell (03.03.2016)
Published in Cell stem cell (03.03.2016)
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Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema
Gurung, Rajya L, FitzGerald, Liesel M, Liu, Ebony, McComish, Bennet J, Kaidonis, Georgia, Ridge, Bronwyn, Hewitt, Alex W, Vote, Brendan J, Verma, Nitin, Craig, Jamie E, Burdon, Kathryn P
Published in International journal of molecular sciences (06.04.2022)
Published in International journal of molecular sciences (06.04.2022)
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Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
Lucas, Sionne E M, Zhou, Tiger, Blackburn, Nicholas B, Mills, Richard A, Ellis, Jonathan, Leo, Paul, Souzeau, Emmanuelle, Ridge, Bronwyn, Charlesworth, Jac C, Lindsay, Richard, Craig, Jamie E, Burdon, Kathryn P
Published in PloS one (20.06.2018)
Published in PloS one (20.06.2018)
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