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

por Siggs, Owen M., Souzeau, Emmanuelle, Breen, James, Qassim, Ayub, Zhou, Tiger, Dubowsky, Andrew, Ruddle, Jonathan B., Craig, Jamie E.
Publicado 2019

Novel protein constituents of pathological ocular pseudoexfoliation syndrome deposits identified with mass spectrometry

por Sharma, Shiwani, Chataway, Tim, Klebe, Sonja, Griggs, Kim, Martin, Sarah, Chegeni, Nusha, Dave, Alpana, Zhou, Tiger, Ronci, Maurizio, Voelcker, Nicolas H., Mills, Richard A., Craig, Jamie E.
Publicado 2018

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

por Souzeau, Emmanuelle, Hayes, Melanie, Ruddle, Jonathan B., Elder, James E., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Zhou, Tiger, Ridge, Bronwyn, Burdon, Kathryn P., Dubowsky, Andrew, Craig, Jamie E.
Publicado 2015

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent

por Lucas, Sionne E. M., Zhou, Tiger, Blackburn, Nicholas B., Mills, Richard A., Ellis, Jonathan, Leo, Paul, Souzeau, Emmanuelle, Ridge, Bronwyn, Charlesworth, Jac C., Lindsay, Richard, Craig, Jamie E., Burdon, Kathryn P.
Publicado 2018

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

por 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.
Publicado 2018

Rare variants in optic disc area gene CARD10 enriched in primary open‐angle glaucoma

por Zhou, Tiger, Souzeau, Emmanuelle, Sharma, Shiwani, Siggs, Owen M., Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Casson, Robert J., Landers, John, Mills, Richard, Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Burdon, Kathryn P., Craig, Jamie E.
Publicado 2016

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

por Zhou, Tiger, Souzeau, Emmanuelle, Sharma, Shiwani, Landers, John, Mills, Richard, Goldberg, Ivan, Healey, Paul R., Graham, Stuart, Hewitt, Alex W., Mackey, David A., Galanopoulos, Anna, Casson, Robert J., Ruddle, Jonathan B., Ellis, Jonathan, Leo, Paul, Brown, Matthew A., MacGregor, Stuart, Lynn, David J., Burdon, Kathryn P., Craig, Jamie E.
Publicado 2017

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

por Souzeau, Emmanuelle, Siggs, Owen M, Zhou, Tiger, Galanopoulos, Anna, Hodson, Trevor, Taranath, Deepa, Mills, Richard A, Landers, John, Pater, John, 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 P, Craig, Jamie E
Publicado 2017

RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome

por Mullany, Sean, Marshall, Henry, Zhou, Tiger, Thomson, Daniel, Schmidt, Joshua M., Qassim, Ayub, Knight, Lachlan S. W., Hollitt, Georgina, Berry, Ella C., Nguyen, Thi, To, Minh-Son, Dimasi, David, Kuot, Abraham, Dubowsky, Joshua, Fogarty, Rhys, Sun, Michelle, Chehade, Luke, Kuruvilla, Shilpa, Supramaniam, Devaraj, Breen, James, Sharma, Shiwani, Landers, John, Lake, Stewart, Mills, Richard A., Hassall, Mark M., Chan, Weng O., Klebe, Sonja, Souzeau, Emmanuelle, Siggs, Owen M., Craig, Jamie E.
Publicado 2022

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

por Gharahkhani, Puya, Burdon, Kathryn P., Cooke Bailey, Jessica N., Hewitt, Alex W., Law, Matthew H., Pasquale, Louis R., Kang, Jae H., Haines, Jonathan L., Souzeau, Emmanuelle, Zhou, Tiger, Siggs, Owen M., Landers, John, Awadalla, Mona, Sharma, Shiwani, Mills, Richard A., Ridge, Bronwyn, Lynn, David, Casson, Robert, Graham, Stuart L., Goldberg, Ivan, White, Andrew, Healey, Paul R., Grigg, John, Lawlor, Mitchell, Mitchell, Paul, Ruddle, Jonathan, Coote, Michael, Walland, Mark, Best, Stephen, Vincent, Andrea, Gale, Jesse, RadfordSmith, Graham, Whiteman, David C., Montgomery, Grant W., Martin, Nicholas G., Mackey, David A, Wiggs, Janey L., MacGregor, Stuart, Craig, Jamie E.
Publicado 2018

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

por Gharahkhani, Puya, Burdon, Kathryn P, Fogarty, Rhys, Sharma, Shiwani, Hewitt, Alex W., Martin, Sarah, Law, Matthew H., Cremin, Katie, Bailey, Jessica N. Cooke, Loomis, Stephanie J., Pasquale, Louis R., Haines, Jonathan L., Hauser, Michael A., Viswanathan, Ananth C., McGuffin, Peter, Topouzis, Fotis, Foster, Paul J., Graham, Stuart L, Casson, Robert J, Chehade, Mark, White, Andrew J, Zhou, Tiger, Souzeau, Emmanuelle, Landers, John, Fitzgerald, Jude T, Klebe, Sonja, Ruddle, Jonathan B, Goldberg, Ivan, Healey, Paul R, Mills, Richard A., Wang, Jie Jin, Montgomery, Grant W., Martin, Nicholas G., RadfordSmith, Graham, Whiteman, David C., Brown, Matthew A., Wiggs, Janey L., Mackey, David A, Mitchell, Paul, MacGregor, Stuart, Craig, Jamie E.
Publicado 2014