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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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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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy
Afshari, Natalie A., Igo, Robert P., Morris, Nathan J., Stambolian, Dwight, Sharma, Shiwani, Pulagam, V. Lakshmi, Dunn, Steven, Stamler, John F., Truitt, Barbara J., Rimmler, Jacqueline, Kuot, Abraham, Croasdale, Christopher R., Qin, Xuejun, Burdon, Kathryn P., Riazuddin, S. Amer, Mills, Richard, Klebe, Sonja, Minear, Mollie A., Zhao, Jiagang, Balajonda, Elmer, Rosenwasser, George O., Baratz, Keith H, Mootha, V. Vinod, Patel, Sanjay V., Gregory, Simon G., Bailey-Wilson, Joan E., Price, Marianne O., Price, Francis W., Craig, Jamie E., Fingert, John H., Gottsch, John D., Aldave, Anthony J., Klintworth, Gordon K., Lass, Jonathan H., Li, Yi-Ju, Iyengar, Sudha K.
Published in Nature communications (30.03.2017)
Published in Nature communications (30.03.2017)
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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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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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Uncovering genetic loci and biological pathways associated with age-related cataracts through GWAS meta-analysis
Diaz-Torres, Santiago, Lee, Samantha Sze-Yee, García-Marín, Luis M., Campos, Adrian I., Lingham, Garreth, Ong, Jue-Sheng, Mackey, David A., Burdon, Kathryn P., Hunter, Michael, Dong, Xianjun, MacGregor, Stuart, Gharahkhani, Puya, Rentería, Miguel E.
Published in Nature communications (23.10.2024)
Published in Nature communications (23.10.2024)
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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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Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness
Lu, Yi, Dimasi, David P, Hysi, Pirro G, Hewitt, Alex W, Burdon, Kathryn P, Toh, Tze'Yo, Ruddle, Jonathan B, Li, Yi Ju, Mitchell, Paul, Healey, Paul R, Montgomery, Grant W, Hansell, Narelle, Spector, Timothy D, Martin, Nicholas G, Young, Terri L, Hammond, Christopher J, Macgregor, Stuart, Craig, Jamie E, Mackey, David A
Published in PLoS genetics (13.05.2010)
Published in PLoS genetics (13.05.2010)
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Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals
Souzeau, Emmanuelle, MSc, Tram, Kien Hou, MD, Witney, Martin, Ruddle, Jonathan B., MBBS, FRANZCO, Graham, Stuart L., PhD, FRANZCO, Healey, Paul R., PhD, FRANZCO, Goldberg, Ivan, MBBS, FRANZCO, Mackey, David A., MD, FRANZCO, Hewitt, Alex W., MBBS, PhD, Burdon, Kathryn P., PhD, Craig, Jamie E., DPhil, FRANZCO
Published in Ophthalmology (Rochester, Minn.) (01.03.2017)
Published in Ophthalmology (Rochester, Minn.) (01.03.2017)
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Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy
Graham, Patricia S, Kaidonis, Georgia, Abhary, Sotoodeh, Gillies, Mark C, Daniell, Mark, Essex, Rohan W, Chang, John H, Lake, Stewart R, Pal, Bishwanath, Jenkins, Alicia J, Hewitt, Alex W, Lamoureux, Ecosse L, Hykin, Philip G, Petrovsky, Nikolai, Brown, Matthew A, Craig, Jamie E, Burdon, Kathryn P
Published in BMC medical genetics (08.05.2018)
Published in BMC medical genetics (08.05.2018)
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Generation of MNZTASi001-A, a human pluripotent stem cell line from a person with primary progressive multiple sclerosis
Mehta, Ashish, Lu, Peter, Taylor, Bruce V., Charlesworth, Jac, Cook, Anthony L., Burdon, Kathryn P., Hewitt, Alex W., Young, Kaylene M.
Published in Stem cell research (01.12.2021)
Published in Stem cell research (01.12.2021)
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Generation and characterisation of four multiple sclerosis iPSC lines from a single family
Fortune, Alastair J., Taylor, Bruce V., Charlesworth, Jac C., Burdon, Kathryn P., Blackburn, Nicholas B., Fletcher, Jessica L., Mehta, Ashish, Young, Kaylene M.
Published in Stem cell research (01.07.2022)
Published in Stem cell research (01.07.2022)
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Association of genetic variants with primary angle closure glaucoma in two different populations
Awadalla, Mona S, Thapa, Suman S, Hewitt, Alex W, Burdon, Kathryn P, Craig, Jamie E
Published in PloS one (28.06.2013)
Published in PloS one (28.06.2013)
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Journal Article
Glaucoma Risk Alleles at CDKN2B-AS1 Are Associated with Lower Intraocular Pressure, Normal-Tension Glaucoma, and Advanced Glaucoma
Burdon, Kathryn P., PhD, Crawford, April, MBBS, Casson, Robert J., DPhil, FRANZCO, Hewitt, Alex W., MBBS, PhD, Landers, John, PhD, FRANZCO, Danoy, Patrick, PhD, Mackey, David A., PhD, FRANZCO, Mitchell, Paul, PhD, FRANZCO, Healey, Paul R., PhD, FRANZCO, Craig, Jamie E., DPhil, FRANZCO
Published in Ophthalmology (Rochester, Minn.) (01.08.2012)
Published in Ophthalmology (Rochester, Minn.) (01.08.2012)
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High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia
Javadiyan, Shari, Craig, Jamie E, Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M, Mackey, David A, Staffieri, Sandra E, Elder, James E, Taranath, Deepa, Straga, Tania, Black, Joanna, Pater, John, Casey, Theresa, Hewitt, Alex W, Burdon, Kathryn P
Published in G3 : genes - genomes - genetics (01.10.2017)
Published in G3 : genes - genomes - genetics (01.10.2017)
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