Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology

Autor Qassim, Ayub, Souzeau, Emmanuelle, Hollitt, Georgie, Hassall, Mark M., Siggs, Owen M., Craig, Jamie E.
Vydáno v Transl Vis Sci Technol (2021)

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

Autor Siggs, Owen M., Souzeau, Emmanuelle, Breen, James, Qassim, Ayub, Zhou, Tiger, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
Vydáno v Mol Vis (2019)

Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma

Autor Siggs, Owen M., Han, Xikun, Qassim, Ayub, Souzeau, Emmanuelle, Kuruvilla, Shilpa, Marshall, Henry N., Mullany, Sean, Mackey, David A., Hewitt, Alex W., Gharahkhani, Puya, MacGregor, Stuart, Craig, Jamie E.
Vydáno v JAMA Ophthalmol (2021)

Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA

Autor Han, Xikun, Steven, Kaiah, Qassim, Ayub, Marshall, Henry N., Bean, Cameron, Tremeer, Michael, An, Jiyuan, Siggs, Owen M., Gharahkhani, Puya, Craig, Jamie E., Hewitt, Alex W., Trzaskowski, Maciej, MacGregor, Stuart
Vydáno v Am J Hum Genet (2021)

Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance

Autor Awadalla, Mona S., Fitzgerald, Jude, Andrew, Nicholas H., Zhou, Tiger, Marshall, Henry, Qassim, Ayub, Hassall, Mark, Casson, Robert J., Graham, Stuart L., Healey, Paul R., Agar, Ashish, Galanopoulos, Anna, Phipps, Simon, Chappell, Angela, Landers, John, Craig, Jamie E.
Vydáno v PLoS One (2018)

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Autor Siggs, Owen M, Awadalla, Mona S, Souzeau, Emmanuelle, Staffieri, Sandra E, Kearns, Lisa S, Laurie, Kate, Kuot, Abraham, Qassim, Ayub, Edwards, Thomas L, Coote, Michael A, Mancel, Erica, Walland, Mark J, Dondey, Joanne, Galanopoulous, Anna, Casson, Robert J, Mills, Richard A, MacArthur, Daniel G, Ruddle, Jonathan B, Burdon, Kathryn P, Craig, Jamie E
Vydáno v Clin Genet (2020)

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Autor Craig, Jamie E., Han, Xikun, Qassim, Ayub, Hassall, Mark, Cooke Bailey, Jessica N., Kinzy, Tyler G., Khawaja, Anthony P., An, Jiyuan, Marshall, Henry, Gharahkhani, Puya, Igo, Robert P., Graham, Stuart L., Healey, Paul R., Ong, Jue-Sheng, Zhou, Tiger, Siggs, Owen, Law, Matthew H., Souzeau, Emmanuelle, Sheldrick, Bronwyn, Hysi, Pirro G., Burdon, Kathryn P., Mills, Richard A., Landers, John, Ruddle, Jonathan B., Agar, Ashish, Galanopoulos, Anna, White, Andrew J. R., Willoughby, Colin E., Andrew, Nicholas, Best, Stephen, Vincent, Andrea L., Goldberg, Ivan, Radford-Smith, Graham, Martin, Nicholas G., Montgomery, Grant W., Vitart, Veronique, Hoehn, Rene, Wojciechowski, Robert, Jonas, Jost B., Aung, Tin, Pasquale, Louis R., Cree, Angela Jane, Sivaprasad, Sobha, Vallabh, Neeru A., Viswanathan, Ananth C., Pasutto, Francesca, Haines, Jonathan L., Klaver, Caroline C. W., van Duijn, Cornelia M., Casson, Robert J., Foster, Paul J., Tee Khaw, Peng, Hammond, Christopher J., Mackey, David A., Mitchell, Paul, Lotery, Andrew J., Wiggs, Janey L., Hewitt, Alex W., MacGregor, Stuart
Vydáno v Nat Genet (2020)

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Autor Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P., Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W., Segrè, Ayellet V., Rouhana, John M., Hamel, Andrew R., Igo, Robert P., Choquet, Helene, Qassim, Ayub, Josyula, Navya S., Cooke Bailey, Jessica N., Bonnemaijer, Pieter W. M., Iglesias, Adriana, Siggs, Owen M., Young, Terri L., Vitart, Veronique, Thiadens, Alberta A. H. J., Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B., Nair, K. Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J., Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K., Martin, Nicholas G., Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E., Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J., Khaw, Peng T., Morgan, James E., Strouthidis, Nicholas G., Kraft, Peter, Kang, Jae H., Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J., Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L., Hammond, Chris, Pasquale, Louis R., Klaver, Caroline C. W., Hauser, Michael, Khor, Chiea Chuen, Mackey, David A., Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E., MacGregor, Stuart, Wiggs, Janey L.
Vydáno v Nat Commun (2021)