Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Owen M Siggs"'
Autor:
Georgina L Hollitt, Ayub Qassim, Daniel Thomson, Joshua M Schmidt, Thi Thi Nguyen, John Landers, Stuart MacGregor, Owen M Siggs, Emmanuelle Souzeau, Jamie E Craig
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Glaucoma and age-related macular degeneration (AMD) account for a substantial portion of global blindness. Both conditions are highly heritable, with recognised monogenic and polygenic inheritance patterns. Current screening guide
Externí odkaz:
https://doaj.org/article/f03b3831676b4d1982b0bce8f6de8137
Autor:
Connor J. Greatbatch, MBBS, Qinyi Lu, MD, PhD, Sandy Hung, PhD, Son N. Tran, PhD, Kristof Wing, MBBS, Helena Liang, MD, PhD, Xikun Han, PhD, Tiger Zhou, FRANZCO, PhD, Owen M. Siggs, MD, PhD, David A. Mackey, FRANZCO, MD, Guei-Sheung Liu, PhD, Anthony L. Cook, PhD, Joseph E. Powell, PhD, Jamie E. Craig, FRANZCO, DPhil, Stuart MacGregor, PhD, Alex W. Hewitt, FRANZCO, PhD
Publikováno v:
Ophthalmology Science, Vol 4, Iss 4, Pp 100504- (2024)
Purpose: Genome-wide association studies have recently uncovered many loci associated with variation in intraocular pressure (IOP). Artificial intelligence (AI) can be used to interrogate the effect of specific genetic knockouts on the morphology of
Externí odkaz:
https://doaj.org/article/abb1ee8966924ea990c570465f440c02
Autor:
Katherine R Bull, Andrew J Rimmer, Owen M Siggs, Lisa A Miosge, Carla M Roots, Anselm Enders, Edward M Bertram, Tanya L Crockford, Belinda Whittle, Paul K Potter, Michelle M Simon, Ann-Marie Mallon, Steve D M Brown, Bruce Beutler, Christopher C Goodnow, Gerton Lunter, Richard J Cornall
Publikováno v:
PLoS Genetics, Vol 9, Iss 1, p e1003219 (2013)
Forward genetics screens with N-ethyl-N-nitrosourea (ENU) provide a powerful way to illuminate gene function and generate mouse models of human disease; however, the identification of causative mutations remains a limiting step. Current strategies de
Externí odkaz:
https://doaj.org/article/8853c90c0f7c420f926eb8c8ec5b55e2
Autor:
Sean Mullany, MD, Henry Marshall, MD, Santiago Diaz-Torres, Ella C. Berry, MChD, Joshua M. Schmidt, PhD, Daniel Thomson, PhD, Ayub Qassim, MBBS, PhD, Minh-Son To, MD, PhD, David Dimasi, PhD, Abraham Kuot, PhD, Lachlan S.W. Knight, Georgina Hollitt, MBBS, Antonia Kolovos, MD, Angela Schulz, PhD, Stewart Lake, MBChB, Richard A. Mills, MBBS, PhD, Ashish Agar, MBBS, PhD, Anna Galanopoulos, MBBS, John Landers, MBBS, PhD, Paul Mitchell, MBBS, PhD, Paul R. Healey, MBBS, PhD, Stuart L. Graham, MBBS, PhD, Alex W. Hewitt, MBBS, PhD, Emmanuelle Souzeau, PhD, Mark M. Hassall, MBBS, DPhil, Sonja Klebe, MBBS, PhD, Stuart MacGregor, PhD, Puya Gharahkhani, PhD, Robert J. Casson, MBBS, DPhil, Owen M. Siggs, MD, DPhil, Jamie E. Craig, MBBS, DPhil
Publikováno v:
Ophthalmology Science, Vol 2, Iss 2, Pp 100159- (2022)
Purpose: To investigate the association between the apolipoprotein E (APOE) E4 dementia-risk allele and prospective longitudinal retinal thinning in a cohort study of suspect and early manifest glaucoma. Design: Retrospective analysis of prospective
Externí odkaz:
https://doaj.org/article/faa3c6b4d45c4abdab7b2a769b6e35ab
Autor:
Henry N. Marshall, Georgina L. Hollitt, Kristopher Wilckens, Sean Mullany, Shilpa Kuruvilla, Emmanuelle Souzeau, John Landers, Xikun Han, Stuart MacGregor, Jamie E. Craig, Owen M. Siggs
Publikováno v:
Ophthalmology Glaucoma. 6:54-57
To evaluate the association between a polygenic risk score (PRS) for primary open-angle glaucoma (POAG) and the age at the first trabeculectomy and the need for bilateral trabeculectomy.Retrospective observational cohort study.Nine hundred and three
Autor:
Mark M Hassall, Shari Javadiyan, Sonja Klebe, Mona S Awadalla, Shiwani Sharma, Ayub Qassim, Melissa White, Paul Q Thomas, Jamie E Craig, Owen M Siggs
Nanophthalmos is characterised by shorter posterior and anterior segments of the eye, with a predisposition towards high hyperopia and primary angle-closure glaucoma. Variants in TMEM98 have been associated with autosomal dominant nanophthalmos in mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be2acadb6b4c13daac17830604f462c6
https://doi.org/10.21203/rs.3.rs-2768991/v1
https://doi.org/10.21203/rs.3.rs-2768991/v1
Autor:
Henry N. Marshall, Sean Mullany, Xikun Han, Ayub Qassim, Weixiong He, Mark M. Hassall, Joshua Schmidt, Daniel Thomson, Thi Thi Nguyen, Ella C. Berry, Lachlan SW. Knight, Georgina L. Hollitt, Bronwyn Ridge, Angela Schulz, Richard A. Mills, Paul R. Healey, Ashish Agar, Anna Galanopoulos, John Landers, Stuart L. Graham, Alex W. Hewitt, Robert J. Casson, Stuart MacGregor, Owen M. Siggs, Jamie E. Craig
Publikováno v:
Ophthalmology.
Autor:
Connor J Greatbatch, Qinyi Lu, Sandy Hung, Son N Tran, Kristof Wing, Helena Liang, Xikun Han, Tiger Zhou, Owen M Siggs, David A Mackey, Guei-Sheung Liu, Anthony L Cook, Joseph E Powell, Jamie E Craig, Stuart MacGregor, Alex W Hewitt
PURPOSEThe exact pathogenesis of primary open-angle glaucoma (POAG) is poorly understood. Genome-wide association studies (GWAS) have recently uncovered many loci associated with variation in intraocular pressure (IOP); a crucial risk factor for POAG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e769cdbf07b1b5ad29b2e4c319047ee4
https://doi.org/10.1101/2023.02.01.526555
https://doi.org/10.1101/2023.02.01.526555
Autor:
Mallika Prem Senthil, Lachlan S. W. Knight, Deepa Taranath, David A. Mackey, Jonathan B. Ruddle, Mark Y. Chiang, Owen M. Siggs, Emmanuelle Souzeau, Jamie E. Craig
Publikováno v:
Cornea. 41:1009-1015
Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures of the eye, with associated systemic features in some cases. This study aims to compare the difference in anterior segment phenotypes su
Autor:
Sean Mullany, Santiago Diaz-Torres, Joshua M. Schmidt, Daniel Thomson, Ayub Qassim, Henry N. Marshall, Lachlan S.W. Knight, Ella C. Berry, Antonia Kolovos, David Dimasi, Stewart Lake, Richard A. Mills, John Landers, Paul Mitchell, Paul R. Healey, Toby Commerford, Sonja Klebe, Emmanuelle Souzeau, Mark M. Hassall, Stuart MacGregor, Puya Gharahkhani, Owen M. Siggs, Jamie E. Craig
Publikováno v:
Ophthalmology Science. 3:100287