Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy

Por Van Bergen, Nicole J., Crowston, Jonathan G., Kearns, Lisa S., Staffieri, Sandra E., Hewitt, Alex W., Cohn, Amy C., Mackey, David A., Trounce, Ian A.
Publicado em 2011

Mutations in the EPHA2 Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia

Por Dave, Alpana, Laurie, Kate, Staffieri, Sandra E., Taranath, Deepa, Mackey, David A., Mitchell, Paul, Wang, Jie Jin, Craig, Jamie E., Burdon, Kathryn P., Sharma, Shiwani
Publicado em 2013

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)

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Por Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Mackey, David A., Staffieri, Sandra E., Elder, James E., Taranath, Deepa, Straga, Tania, Black, Joanna, Pater, John, Casey, Theresa, Hewitt, Alex W., Burdon, Kathryn P.
Publicado no G3 (Bethesda) (2017)

Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia

Por Lim, Sing-Hui, St.Germain, Elizabeth, Tran-Viet, Khanh-Nhat, Staffieri, Sandra, Marino, Meghan, Dollfus, Hélène, Nading, Erica B., Crowe, Sue, Gole, Glen, Perdomo-Trujillo, Yaumara, Haybittel, Michael, Elder, James, Pelletier, Valérie, Traboulsi, Elias, Mackey, David, Young, Terri L.
Publicado em 2013

Binocular treatment of amblyopia using videogames (BRAVO): study protocol for a randomised controlled trial

Por Guo, Cindy X., Babu, Raiju J., Black, Joanna M., Bobier, William R., Lam, Carly S. Y., Dai, Shuan, Gao, Tina Y., Hess, Robert F., Jenkins, Michelle, Jiang, Yannan, Kowal, Lionel, Parag, Varsha, South, Jayshree, Staffieri, Sandra Elfride, Walker, Natalie, Wadham, Angela, Thompson, Benjamin
Publicado no Trials (2016)

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)

Genome-wide analysis of multiethnic cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Por Hysi, Pirro G, Cheng, Ching-Yu, Springelkamp, Henriët, Macgregor, Stuart, Bailey, Jessica N Cooke, Wojciechowski, Robert, Vitart, Veronique, Nag, Abhishek, Hewitt, Alex W, Höhn, René, Venturini, Cristina, Mirshahi, Alireza, Ramdas, Wishal D., Thorleifsson, Gudmar, Vithana, Eranga, Khor, Chiea-Chuen, Stefansson, Arni B, Liao, Jiemin, Haines, Jonathan L, Amin, Najaf, Wang, Ya Xing, Wild, Philipp S, Ozel, Ayse B, Li, Jun Z, Fleck, Brian W, Zeller, Tanja, Staffieri, Sandra E, Teo, Yik-Ying, Cuellar-Partida, Gabriel, Luo, Xiaoyan, Allingham, R Rand, Richards, Julia E, Senft, Andrea, Karssen, Lennart C, Zheng, Yingfeng, Bellenguez, Céline, Xu, Liang, Iglesias, Adriana I, Wilson, James F, Kang, Jae H, van Leeuwen, Elisabeth M, Jonsson, Vesteinn, Thorsteinsdottir, Unnur, Despriet, Dominiek D.G., Ennis, Sarah, Moroi, Sayoko E, Martin, Nicholas G, Jansonius, Nomdo M, Yazar, Seyhan, Tai, E-Shyong, Amouyel, Philippe, Kirwan, James, van Koolwijk, Leonieke M.E., Hauser, Michael A, Jonasson, Fridbert, Leo, Paul, Loomis, Stephanie J, Fogarty, Rhys, Rivadeneira, Fernando, Kearns, Lisa, Lackner, Karl J, de Jong, Paulus T.V.M., Simpson, Claire L, Pennell, Craig E, Oostra, Ben A, Uitterlinden, André G, Saw, Seang-Mei, Lotery, Andrew J, Bailey-Wilson, Joan E, Hofman, Albert, Vingerling, Johannes R, Maubaret, Cécilia, Pfeiffer, Norbert, Wolfs, Roger C.W., Lemij, Hans G, Young, Terri L, Pasquale, Louis R, Delcourt, Cécile, Spector, Timothy D, Klaver, Caroline C.W., Small, Kerrin S, Burdon, Kathryn P, Stefansson, Kari, Wong, Tien-Yin, Viswanathan, Ananth, Mackey, David A, Craig, Jamie E, Wiggs, Janey L, van Duijn, Cornelia M, Hammond, Christopher J, Aung, Tin
Publicado em 2014