Showing 1 - 20 results of 20 for search 'Kathryn P. Burdon', query time: 0.05s
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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome) by Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P. Burdon
Published 2017-05-01
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Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. by Alpana Dave, Kate Laurie, Sandra E Staffieri, Deepa Taranath, David A Mackey, Paul Mitchell, Jie Jin Wang, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma
Published 2013-01-01
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Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy. by Nicole J Van Bergen, Jonathan G Crowston, Jamie E Craig, Kathryn P Burdon, Lisa S Kearns, Shiwani Sharma, Alex W Hewitt, David A Mackey, Ian A Trounce
Published 2015-01-01
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Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema by Rajya L. Gurung, Liesel M. FitzGerald, Ebony Liu, Bennet J. McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W. Hewitt, Brendan J. Vote, Nitin Verma, Jamie E. Craig, Kathryn P. Burdon
Published 2022-04-01
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Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice by Rajya L Gurung, Liesel M FitzGerald, Ebony Liu, Bennet J McComish, Georgia Kaidonis, Bronwyn Ridge, Alex W Hewitt, Brendan J Vote, Nitin Verma, Jamie E Craig, Kathryn P Burdon
Published 2023-04-01
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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. by Sionne E M Lucas, Tiger Zhou, Nicholas B Blackburn, Richard A Mills, Jonathan Ellis, Paul Leo, Emmanuelle Souzeau, Bronwyn Ridge, Jac C Charlesworth, Richard Lindsay, Jamie E Craig, Kathryn P Burdon
Published 2018-01-01
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High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia by Shari Javadiyan, Jamie E. Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen M. Lower, David A. Mackey, Sandra E. Staffieri, James E. Elder, Deepa Taranath, Tania Straga, Joanna Black, John Pater, Theresa Casey, Alex W. Hewitt, Kathryn P. Burdon
Published 2017-10-01
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Pathogenic genetic variants identified in Australian families with paediatric cataract by David A Mackey, Emmanuelle Souzeau, Jamie E Craig, Jonathan B Ruddle, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Sandra E Staffieri, Johanna L Jones, Lisa S Kearns, James E Elder, Deepa Taranath, John Pater, Theresa Casey
Published 2022-10-01
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Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy by Patricia S. Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C. Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart R. Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip G. Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig, Kathryn P. Burdon
Published 2018-05-01
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Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort by Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills
Published 2022-10-01
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Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma. by Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, David J Lynn, Kathryn P Burdon, Jamie E Craig
Published 2017-01-01
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Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. by Yi Lu, David P Dimasi, Pirro G Hysi, Alex W Hewitt, Kathryn P Burdon, Tze'Yo Toh, Jonathan B Ruddle, Yi Ju Li, Paul Mitchell, Paul R Healey, Grant W Montgomery, Narelle Hansell, Timothy D Spector, Nicholas G Martin, Terri L Young, Christopher J Hammond, Stuart Macgregor, Jamie E Craig, David A Mackey
Published 2010-05-01
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Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic by Dianne Nicol, Lisa Eckstein, Michael Morrison, Jacob S. Sherkow, Margaret Otlowski, Tess Whitton, Tania Bubela, Kathryn P. Burdon, Don Chalmers, Sarah Chan, Jac Charlesworth, Christine Critchley, Merlin Crossley, Sheryl de Lacey, Joanne L. Dickinson, Alex W. Hewitt, Joanne Kamens, Kazuto Kato, Erika Kleiderman, Satoshi Kodama, John Liddicoat, David A. Mackey, Ainsley J. Newson, Jane Nielsen, Jennifer K. Wagner, Rebekah E. McWhirter
Published 2017-09-01
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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy by Natalie A. Afshari, Robert P. Igo, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V. Lakshmi Pulagam, Steven Dunn, John F. Stamler, Barbara J. Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass, Yi-Ju Li, Sudha K. Iyengar
Published 2017-03-01
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Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases by Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study - GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, Wellcome Trust Case Control Consortium 2 (WTCCC2), NEIGHBORHOOD consortium, André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor
Published 2019-01-01
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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases by Adriana I. Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N. Cooke Bailey, Colin E. Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P. Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L. Haines, Lisa S. Kearns, Caroline Hayward, Yuan Shi, Elisabeth M. van Leeuwen, Kent D. Taylor, Blue Mountains Eye Study—GWAS group, Pieter Bonnemaijer, Jerome I. Rotter, Nicholas G. Martin, Tanja Zeller, Richard A. Mills, Emmanuelle Souzeau, Sandra E. Staffieri, Jost B. Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H. Kang, Sionne E. M. Lucas, Tien Yin Wong, Manfred E. Beutel, James F. Wilson, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), André G. Uitterlinden, Eranga N. Vithana, Paul J. Foster, Pirro G. Hysi, Alex W. Hewitt, Chiea Chuen Khor, Louis R. Pasquale, Grant W. Montgomery, Caroline C. W. Klaver, Tin Aung, Norbert Pfeiffer, David A. Mackey, Christopher J. Hammond, Ching-Yu Cheng, Jamie E. Craig, Yaron S. Rabinowitz, Janey L. Wiggs, Kathryn P. Burdon, Cornelia M. van Duijn, Stuart MacGregor
Published 2018-05-01
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