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 no Mol Vis (2015)

Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma

Por AWADALLA, MONA S., FINGERT, JOHN H., ROOS, BENJAMIN E., CHEN, SIMON, HOLMES, RICHARD, GRAHAM, STUART L., CHEHADE, MARK, GALANOPOLOUS, ANNA, RIDGE, BRONWYN, SOUZEAU, EMMANUELLE, ZHOU, TIGER, SIGGS, OWEN M., HEWITT, ALEX W., MACKEY, DAVID A., BURDON, KATHRYN P., CRAIG, JAMIE E.
Publicado no Am J Ophthalmol (2014)

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 no Mol Genet Genomic Med (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 no PLoS One (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 no Eur J Hum Genet (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 no Eur J Hum Genet (2017)

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Por Souma, Tomokazu, Tompson, Stuart W., Thomson, Benjamin R., Siggs, Owen M., Kizhatil, Krishnakumar, Yamaguchi, Shinji, Feng, Liang, Limviphuvadh, Vachiranee, Whisenhunt, Kristina N., Maurer-Stroh, Sebastian, Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Mauri, Lucia, Javadiyan, Shahrbanou, Souzeau, Emmanuelle, Zhou, Tiger, Hewitt, Alex W., Kloss, Bethany, Burdon, Kathryn P., Mackey, David A., Allen, Keri F., Ruddle, Jonathan B., Lim, Sing-Hui, Rozen, Steve, Tran-Viet, Khanh-Nhat, Liu, Xiaorong, John, Simon, Wiggs, Janey L., Pasutto, Francesca, Craig, Jamie E., Jin, Jing, Quaggin, Susan E., Young, Terri L.
Publicado no J Clin Invest (2016)

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 no Sci Rep (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 em 2014

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Por Springelkamp, Henriët, Mishra, Aniket, Hysi, Pirro G., Gharahkhani, Puya, Höhn, René, Khor, Chiea-Chuen, Cooke Bailey, Jessica N., Luo, Xiaoyan, Ramdas, Wishal D., Vithana, Eranga, Koh, Victor, Yazar, Seyhan, Xu, Liang, Forward, Hannah, Kearns, Lisa S., Amin, Najaf, Iglesias, Adriana I., Sim, Kar-Seng, van Leeuwen, Elisabeth M., Demirkan, Ayse, van der Lee, Sven, Loon, Seng-Chee, Rivadeneira, Fernando, Nag, Abhishek, Sanfilippo, Paul G., Schillert, Arne, de Jong, Paulus T. V. M., Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Zhou, Tiger, Burdon, Kathryn P., Spector, Timothy D., Lackner, Karl J., Saw, Seang-Mei, Vingerling, Johannes R., Teo, Yik-Ying, Pasquale, Louis R., Wolfs, Roger C. W., Lemij, Hans G., Tai, E-Shyong, Jonas, Jost B., Cheng, Ching-Yu, Aung, Tin, Jansonius, Nomdo M., Klaver, Caroline C. W., Craig, Jamie E., Young, Terri L., Haines, Jonathan L., MacGregor, Stuart, Mackey, David A., Pfeiffer, Norbert, Wong, Tien-Yin, Wiggs, Janey L., Hewitt, Alex W., van Duijn, Cornelia M., Hammond, Christopher J.
Publicado no Genet Epidemiol (2015)