Now showing items 65-84 of 180

    • Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 

      Burdon, Kathryn Penelope; MacGregor, Stuart; Hewitt, Alex W; Sharma, Shiwani; Chidlow, Glyn; Mills, Richard Arthur; Danoy, Patrick; Casson, Robert J; Viswanathan, Ananth C; Liu, Jimmy Z; Landers, John; Henders, Anjali K; Wood, John; Souzeau, Emmanuelle; Crawford, April; Leo, Paul; Wang, Jie Jin; Nyholt, Dale R; Martin, Nicholas G; Montgomery, Grant W; Mitchell, Paul; Brown, Matthew A; Mackey, David A; Craig, Jamie E (Nature Publishing Group, 2011)
      A genome-wide association study (GWAS) for open angle glaucoma (OAG) blindness was conducted using a discovery cohort of 590 cases with severe visual field loss and 3956 controls. Genome-wide significant associations were ...
    • 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 Arthur; Landers, John; Ruddle, Jonathan B; Graham, Stuart L; Healey, Paul R; White, Andrew J; Casson, Robert J; Best, Stephen; Grigg, John RB; Goldberg, Ivan; Powell, Joseph E; Whiteman, David C; Smith, Graham; Martin, Nicholas G; Montgomery, Grant W; Burdon, Kathryn Penelope; Mackey, David A; Gharahkhani, Puya; Craig, Jamie E; Hewitt, Alex W (Springer Nature, 2018-07-27)
      Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG are highly heritable. We report a combined ...
    • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia 

      Verhoeven, Virginie J M; Hysi, Pirro G; Wojciechowski, Robert; Fan, Qiao; Guggenheim, Jeremy A; Hohn, Rene; MacGregor, Stuart; Hewitt, Alex W; Nag, Abhishek; Cheng, Ching-Yu; Yonova-Doing, Ekaterina; Zhou, Xin (National University of Singapore); Ikram, M Kamran; Buitendijk, Gabrielle H S; McMahon, George; Kemp, John P; St Pourcain, St Pourcain; Simpson, Claire L; Mäkela, Kari-Matti; Lehtimaki, Terho; Kahonen, Mika; Paterson, Andrew D; Hosseini, S Mohsen; Wong, Hoi Suen; Xu, Liang; Jonas, Jost B; Pärssinen, Olavi; Wedenoja, Juho; Yip, Shea Yip; Ho, Daniel W H; Pang, Chi Pui; Chen, Li-Jia; Klein, Barbara E K; Klein, Ronald; Haller, Toomas; Metspalu, Andres; Khor, Chiea Chuen; Tai, E-Shyong; Aung, Tin; Vithana, Eranga; Tay, Wan-Ting; Barathi, Veluchamy A; Chen, Peng; Li, Ruoying; Liao, Jiemin; Zheng, Yingfeng (Singapore Eye Research Institute); Ong, Rick T; Döring, Angela; Evans, David M; Timpson, Nicholas J; Verkerk, Annemieke J M H; Meitinger, Thomas; Raitakari, Olli; Hawthorne, Felicia; Spector, Tim D; Karssen, Lennart C; Pirastu, Mario; Murgia, Federico; Ang, Wei; Mishra, Aniket; Montgomery, Grant W; Pennell, Craig E; Cumberland, Phillippa M; Cotlarciuc, Ioana; Mitchell, Paul; Wang, Jie Jin; Schache, Maria; Janmahasathian, Sarayut; Igo Jr, Robert P; Lass, Jonathan H; Chew, Emily; Iyengar, Sudha K; Gorgels, Theo G M F; Rudan, Igor; Hayward, Caroline; Wright, Alan F; Craig, Jamie E; Burdon, Kathryn Penelope (Nature Publishing Group, 2013-02-10)
      Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, ...
    • Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants 

      Souzeau, Emmanuelle; Siggs, Owen M; Zhou, Tiger; Galanopoulos, Anna; Hodson, Trevor; Taranath, Deepa A; Mills, Richard Arthur; Landers, John; Pater, John Brian; Smith, James E; Elder, James E; Rait, Julian L; Giles, Paul; Phakey, Vivek; Staffieri, Sandra E; Kearns, Lisa S; Dubowsky, Andrew; Mackey, David A; Hewitt, Alex W; Ruddle, Jonathan B; Burdon, Kathryn Penelope; Craig, Jamie E (Nature Publishing Group, 2017-05-17)
      Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals ...
    • Global causes of blindness and distance vision impairment 1990–2020: a systematic review and meta-analysis 

      Flaxman, Seth R; Bourne, Rupert R A; Resnikoff, Serge; Ackland, Peter; Braithwaite, Tasanee; Cicinelli, Maria V; Das, Aditi; Jonas, Jost B; Keeffe, Jill E; Kempen, John H; Leasher, Janet; Limburg, Hans; Naidoo, Kovin; Pesudovs, Konrad; Silvester, Alex; Stevens, Gretchen A; Tahhan, Nina; Wong, Tien Yin; Taylor, Hugh R; Vision Loss Expert Group of the Global Burden of Disease Study (Elsevier, 2017-10-11)
      Background Contemporary data for causes of vision impairment and blindness form an important basis of recommendations in public health policies. Refreshment of the Global Vision Database with recently published data sources ...
    • Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015 

      Forouzanfar, Mohammad H; Afshin, Ashkan; Alexander, Lily T; Anderson, H Ross; Bhutta, Zulfiqar A; Biryukov, Stan; Brauer, Michael; Burnett, Richard; Cercy, Kelly; Charlson, Fiona J; Cohen, Aaron J; Dandona, Lalit; Estep, Kara; Ferrari, Alize J; Frostad, Joseph J; Fullman, Nancy; Gething, Peter W; Godwin, William W; Griswold, Max; Kinfu, Yohannes; Kyu, Hmwe Hmwe; Larson, Heidi J; Liang, Xiaofeng; Lim, Stephen S; Liu, Patrick Y; Pesudovs, Konrad; et. al. (Elsevier, 2016-10-08)
      Background The Global Burden of Diseases, Injuries, and Risk Factors Study 2015 provides an up-to-date synthesis of the evidence for risk factor exposure and the attributable burden of disease. By providing national and ...
    • Global, regional, and national disability-adjusted life-years (DALYs) for 315 diseases and injuries and healthy life expectancy (HALE), 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015 

      Kassebaum, Nicholas J; Arora, Megha; Barber, Ryan M; Bhutta, Zulfiqar A; Brown, Jonathan; Carter, Austin; Casey, Daniel C; Charlson, Fiona J; Coates, Michael M; Coggeshall, Megan; Cornaby, Leslie; Dandona, Lalit; Dicker, Daniel J; Erskine, Holly E; Ferrari, Alize J; Fitzmaurice, Christina; Foreman, Kyle; Forouzanfar, Mohammad H; Fullman, Nancy; Gething, Peter W; Goldberg, Elkhonon; Graetz, Nicholas; Haagsma, Juanita A; Johnson, Catherine O; Kemmer, Laura; Pesudovs, Konrad; et. al. (Elsevier, 2016-10-08)
      Background Healthy life expectancy (HALE) and disability-adjusted life-years (DALYs) provide summary measures of health across geographies and time that can inform assessments of epidemiological patterns and health system ...
    • Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015 

      Vos, Theo; Allen, Christine; Arora, Megha; Barber, Ryan M; Bhutta, Zulfiqar A; Brown, Alexandria; Carter, Austin; Casey, Daniel C; Charlson, Fiona J; Chen, Alan Z; Coggeshall, Megan; Cornaby, Leslie; Dandona, Lalit; Dicker, Daniel J; Dilegge, Tina; Erskine, Holly E; Ferrari, Alize J; Fitzmaurice, Christina; Fleming, Tom; Forouzanfar, Mohammad H; Fullman, Nancy; Gething, Peter W; Goldberg, Ellen M; Graetz, Nicholas; Haagsma, Juanita A; Pesudovs, Konrad; et. al. (Elsevier, 2016-10-08)
      Background Non-fatal outcomes of disease and injury increasingly detract from the ability of the world's population to live in full health, a trend largely attributable to an epidemiological transition in many countries ...
    • Global, regional, and national levels of maternal mortality, 1990–2015: a systematic analysis for the Global Burden of Disease Study 2015 

      Kassebaum, Nicholas J; Barber, Ryan M; Bhutta, Zulfiqar A; Dandona, Lalit; Gething, Peter W; Hay, Simon I; Kinfu, Yohannes; Larson, Heidi J; Liang, Xiaofeng; Lim, Stephen S; Lopez, Alan D; Lozano, Rafael; Mensah, George A; Mokdad, Ali H; Naghavi, Mohsen; Pinho, Christine; Salomon, Joshua A; Steiner, Caitlyn; Vos, Theo; Wang, Haidong; Abajobir, Amanuel Alemu; Abate, Kalkidan Hassen; Abbas, Kaja M; Abd-Allah, Foad; Abdallat, Mahmud A; Pesudovs, Konrad; et. al. (Elsevier, 2016-10-08)
      Background In transitioning from the Millennium Development Goal to the Sustainable Development Goal era, it is imperative to comprehensively assess progress toward reducing maternal mortality to identify areas of success, ...
    • Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015 

      Wang, Haidong; Naghavi, Mohsen; Allen, Christine; Barber, Ryan M; Bhutta, Zulfiqar A; Carter, Austin; Casey, Daniel C; Charlson, Fiona J; Chen, Alan Z; Coates, Michael M; Coggeshall, Megan; Dandona, Lalit; Dicker, Daniel J; Erskine, Holly E; Ferrari, Alize J; Fitzmaurice, Christina; Foreman, Kyle; Forouzanfar, Mohammad H; Fraser, Maya S; Fullman, Nancy; Gething, Peter W; Goldberg, Ellen M; Graetz, Nicholas; Haagsma, Juanita A; Hay, Simon I; Pesudovs, Konrad; et. al. (Elsevier, 2016-10-08)
      Background Improving survival and extending the longevity of life for all populations requires timely, robust evidence on local mortality levels and trends. The Global Burden of Disease 2015 Study (GBD 2015) provides a ...
    • Global, regional, national, and selected subnational levels of stillbirths, neonatal, infant, and under-5 mortality, 1980–2015: a systematic analysis for the Global Burden of Disease Study 2015 

      Wang, Haidong; Bhutta, Zulfiqar A; Coates, Matthew M; Coggeshall, Megan; Dandona, Lalit; Diallo, Khassoum; Franca, Elisabeth Barboza; Fraser, Maya; Fullman, Nancy; Gething, Peter W; Hay, Simon I; Kinfu, Yohannes; Kita, Maaya; Kulikoff, Xie Rachel; Larson, Heidi J; Liang, Juan; Liang, Xiaofeng; Lind, Margaret; Lopez, Alan D; Lozano, Rafael; Mensah, George A; Mikesell, Joseph B; Mokdad, Ali H; Mooney, Meghan D; Nguyen, Grant; Pesudovs, Konrad; et. al. (Elsevier, 2016-10-08)
      Background Established in 2000, Millennium Development Goal 4 (MDG4) catalysed extraordinary political, financial, and social commitments to reduce under-5 mortality by two-thirds between 1990 and 2015. At the country ...
    • GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration 

      Riaz, Moeen; Lores-Motta, Laura; Richardson, Andrea J; Lu, Yi; Montgomery, Grant W; Omar, Amer; Koenekoop, Robert K; Chen, John; Muether, Philipp; Altay, Lebriz; Schick, Tina; Fauser, Sascha; Smailhodzic, Dzenita; van Asten, Freekje; de Jong, Eiko K; Hoyng, Carel B; Burdon, Kathryn Penelope; MacGregor, Stuart; Guymer, Robyn H; den Hollander, Anneke I; Baird, Paul N (Nature Publishing Group, 2016-11-28)
      Pooled DNA based GWAS to determine genetic association of SNPs with visual acuity (VA) outcome in anti-vascular endothelial growth factor (anti-VEGF) treated neovascular age-related macular degeneration (nAMD) patients. ...
    • High throughput genetic screening of 51 paediatric cataract genes identifies causative mutations in inherited paediatric cataract in South Eastern Australia 

      Javadiyan, Shahrbanou; Craig, Jamie E; Souzeau, Emmanuelle; Sharma, Shiwani; Lower, Karen Marie; Mackey, David A; Staffieri, Sandra E; Elder, James E; Taranath, Deepa A; Straga, Tania; Black, Joanna; Pater, John Brian; Casey, Theresa; Hewitt, Alex W; Burdon, Kathryn Penelope (Genetics Society of America., 2017-08-24)
      Paediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of paediatric cataract in Australian families by screening known disease associated genes using massively ...
    • Higher prevalence of Myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry 

      Souzeau, Emmanuelle; Burdon, Kathryn Penelope; Dubowsky, Andrew; Grist, S; Usher, Bronwyn; Fitzgerald, Jude T; Crawford, April; Hewitt, Alex W; Goldberg, Ivan; Mills, Richard Arthur; Ruddle, Jonathan B; Landers, John; Mackey, David A; Craig, Jamie E (Elsevier, 2013-02-28)
      The prevalence of Myocilin mutations in glaucoma cases with severe visual field loss is significantly greater than in nonadvanced glaucoma patients. Myocilin screening in phenotypically selected cases can have a much higher ...
    • Identification and In Vitro Expansion of Buccal Epithelial Cells 

      Ghaemi, Soraya Rasi; Delalat, Bahman; Harding, Frances Jane; Irani, Yazad; Williams, Keryn Anne; Voelcker, Nicolas Hans (SAGE Publications, 2018-06-01)
      Ex vivo-expanded buccal mucosal epithelial (BME) cell transplantation has been used to reconstruct the ocular surface. Methods for enrichment and maintenance of BME progenitor cells in ex vivo cultures may improve the ...
    • Identification of a novel MYOC mutation, p.Trp373X, in a family with open angle glaucoma 

      Crawford, April; Souzeau, Emmanuelle; Agar, Ashish; Ridge, Bronwyn; Dubowsky, Andrew; Burdon, Kathryn Penelope; Craig, Jamie E (Elsevier, 2014)
    • Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family 

      Laurie, Kate; Dave, Alpana; Straga, Tania; Souzeau, Emmanuelle; Chataway, Timothy Kennion; Sykes, Matthew James; Casey, Theresa; Teo, Theodosia; Pater, John Brian; Craig, Jamie E; Sharma, Shiwani; Burdon, Kathryn Penelope (Wiley-Blackwell, 2013-03)
      Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin ...
    • Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka 

      Javadiyan, Shahrbanou; Lucas, Sionne E; Wangmo, Dechen; Ngy, Meng; Edussuriya, Kapila; Craig, Jamie E; Rudkin, Adam K; Casson, Robert J; Selva, Dinesh; Sharma, Shiwani; Lower, Karen Marie; Meucke, James; Burdon, Kathryn Penelope (Wiley, 2018-04-05)
      Background: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous ...
    • The impact of corneal allograft rejection on the long-term outcome of corneal transplantation 

      Coster, Douglas John; Williams, Keryn Anne (2005)
      To examine the influence of corneal allograft rejection on the survival of penetrating corneal transplantation, to review the status of conventional therapies to improve graft survival, and to consider prospects for ...
    • The Impact of Diabetic Retinopathy and Diabetic Macular Edema on Health-Related Quality of Life in Type 1 and Type 2 Diabetes 

      Fenwick, E K; Xie, J; Ratcliffe, Julia; Pesudovs, Konrad; Finger, R P; Wong, T Y; Lamoureux, E L (Association for Research in Vision and Ophthalmology, Inc., 2012-02)
      Purpose.: To assess the impact of diabetic retinopathy (DR) and diabetic macular edema (DME) on health-related quality of life (HRQoL) in type 1 and type 2 diabetes using the EuroQoL EQ-5D generic multi-attribute utility ...