Heterogeneity of Human Research Ethics Committees and Research Governance Offices across Australia: An observational study

Por De Smit, Elisabeth, Kearns, Lisa S, Clarke, Linda, Dick, Jonathan, Hill, Catherine L, Hewitt, Alex W
Publicado no Australas Med J (2016)

Rounds Today: A Qualitative Study of Internal Medicine and Pediatrics Resident Perceptions

Por Rabinowitz, Raphael, Farnan, Jeanne, Hulland, Oliver, Kearns, Lisa, Long, Michele, Monash, Bradley, Bhansali, Priti, Fromme, H. Barrett
Publicado no J Grad Med Educ (2016)

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

Por Young, Thomas K., Souzeau, Emmanuelle, Liu, Lance, Kearns, Lisa S., Burdon, Kathryn P., Craig, Jamie E., Ruddle, Jonathan B.
Publicado em 2012

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

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy

Por Van Bergen, Nicole J, Crowston, Jonathan G., Craig, Jamie E., Burdon, Kathryn P., Kearns, Lisa S., Sharma, Shiwani, Hewitt, Alex W., Mackey, David A., Trounce, Ian A.
Publicado no PLoS One (2015)

Ophthalmic Phenotypes and the Representativeness of Twin Data for the General Population

Por Sanfilippo, Paul G., Medland, Sarah E., Hewitt, Alex W., Kearns, Lisa S., Ruddle, Jonathan B., Sun, Cong, Hammond, Christopher J., Young, Terri L., Martin, Nicholas G., Mackey, David A.
Publicado em 2011

The role of toll-like receptor variants in acute anterior uveitis

Por Pratap, Divya S., Lim, Lyndell L., Wang, Jie Jin, Mackey, David A., Kearns, Lisa S., Stawell, Richard J., Burdon, Kathryn P., Mitchell, Paul, Craig, Jamie E., Hall, Anthony J., Hewitt, Alex W.
Publicado em 2011

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association...

Por Yazar, Seyhan, Mishra, Aniket, Ang, Wei, Kearns, Lisa S., Mountain, Jenny A., Pennell, Craig, Montgomery, Grant W., Young, Terri L., Hammond, Christopher J., Macgregor, Stuart, Mackey, David A., Hewitt, Alex W.
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)

Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins

Por Mackey, David A, MacKinnon, Jane R, Brown, Shayne A, Kearns, Lisa S, Ruddle, Jonathan B, Sanfilippo, Paul G, Sun, Cong, Hammond, Christopher J, Young, Terri L, Martin, Nicholas G, Hewitt, Alex W
Publicado em 2009

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy

Por Wong, Raymond C.B., Lim, Shiang Y., Hung, Sandy S.C., Jackson, Stacey, Khan, Shahnaz, Van Bergen, Nicole J., De Smit, Elisabeth, Liang, Helena H., Kearns, Lisa S, Clarke, Linda, Mackey, David A., Hewitt, Alex W., Trounce, Ian A., Pébay, Alice
Publicado no Aging (Albany NY) (2017)

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Por Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Publicado em 2010

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

Por Poulter, James A., Ali, Manir, Gilmour, David F., Rice, Aine, Kondo, Hiroyuki, Hayashi, Kenshi, Mackey, David A., Kearns, Lisa S., Ruddle, Jonathan B., Craig, Jamie E., Pierce, Eric A., Downey, Louise M., Mohamed, Moin D., Markham, Alexander F., Inglehearn, Chris F., Toomes, Carmel
Publicado no Am J Hum Genet (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)

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Por Davidson, Alice E., Cheong, Sek-Shir, Hysi, Pirro G., Venturini, Cristina, Plagnol, Vincent, Ruddle, Jonathan B., Ali, Hala, Carnt, Nicole, Gardner, Jessica C., Hassan, Hala, Gade, Else, Kearns, Lisa, Jelsig, Anne Marie, Restori, Marie, Webb, Tom R., Laws, David, Cosgrove, Michael, Hertz, Jens M., Russell-Eggitt, Isabelle, Pilz, Daniela T., Hammond, Christopher J., Tuft, Stephen J., Hardcastle, Alison J.
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)

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