Showing 1 - 10 results of 10 for search 'Lisa S. Kearns', query time: 0.04s
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A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy by Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
Published 2020-06-01
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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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Generation of a human induced pluripotent stem cell line CERAi001-A-6 using episomal vectors by Raymond C.B. Wong, Sandy S. Hung, Stacey Jackson, Vikrant Singh, Shahnaz Khan, Helena H. Liang, Lisa S. Kearns, Tu Nguyen, Alison Conquest, Maciej Daniszewski, Alex W. Hewitt, Alice Pébay
Published 2017-07-01
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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey by Alexis Ceecee Britten-Jones, Joshua Schultz, Heather G. Mack, Lisa S. Kearns, Aamira J. Huq, Jonathan B. Ruddle, David A. Mackey, Alex W. Hewitt, Thomas L. Edwards, Lauren N. Ayton
Published 2024-03-01
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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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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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Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma by Maciej Daniszewski, Anne Senabouth, Helena H. Liang, Xikun Han, Grace E. Lidgerwood, Damián Hernández, Priyadharshini Sivakumaran, Jordan E. Clarke, Shiang Y. Lim, Jarmon G. Lees, Louise Rooney, Lerna Gulluyan, Emmanuelle Souzeau, Stuart L. Graham, Chia-Ling Chan, Uyen Nguyen, Nona Farbehi, Vikkitharan Gnanasambandapillai, Rachael A. McCloy, Linda Clarke, Lisa S. Kearns, David A. Mackey, Jamie E. Craig, Stuart MacGregor, Joseph E. Powell, Alice Pébay, Alex W. Hewitt
Published 2022-06-01
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Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration by Anne Senabouth, Maciej Daniszewski, Grace E. Lidgerwood, Helena H. Liang, Damián Hernández, Mehdi Mirzaei, Stacey N. Keenan, Ran Zhang, Xikun Han, Drew Neavin, Louise Rooney, Maria Isabel G. Lopez Sanchez, Lerna Gulluyan, Joao A. Paulo, Linda Clarke, Lisa S. Kearns, Vikkitharan Gnanasambandapillai, Chia-Ling Chan, Uyen Nguyen, Angela M. Steinmann, Rachael A. McCloy, Nona Farbehi, Vivek K. Gupta, David A. Mackey, Guy Bylsma, Nitin Verma, Stuart MacGregor, Matthew J. Watt, Robyn H. Guymer, Joseph E. Powell, Alex W. Hewitt, Alice Pébay
Published 2022-07-01
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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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