Quality of life in children with glaucoma: a qualitative interview study in Australia

por Knight, Lachlan S W, Ridge, Bronwyn, Staffieri, Sandra E, Craig, Jamie E, Prem Senthil, Mallika, Souzeau, Emmanuelle
Publicado 2022

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

por Staffieri, Sandra E., Kearns, Lisa S., Sanfilippo, Paul G., Craig, Jamie E., Mackey, David A., Hewitt, Alex W.
Publicado 2018

Danish heritable retinoblastoma survivors' perspectives on reproductive choices: “It's important for me, not to pass on this condition”

por Gregersen, Pernille A., Funding, Mikkel, Alsner, Jan, Olsen, Maja H., Overgaard, Jens, Urbak, Steen F., Staffieri, Sandra E., Lou, Stina
Publicado 2022

Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: ‘That is exactly what I have been missing’

por Gregersen, Pernille Axel, Funding, Mikkel, Alsner, Jan, Olsen, Maja H, Overgaard, Jens, Urbak, Steen F, Staffieri, Sandra E, Lou, Stina
Publicado 2021

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 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 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 2015

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

por Fu, Haojie, Siggs, Owen M., Knight, Lachlan S.W., Staffieri, Sandra E., Ruddle, Jonathan B., Birsner, Amy E., Collantes, Edward Ryan, Craig, Jamie E., Wiggs, Janey L., D’Amato, Robert J.
Publicado 2022

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 2017

Establishing risk of vision loss in Leber hereditary optic neuropathy

por Lopez Sanchez, M. Isabel G., Kearns, Lisa S., Staffieri, Sandra E., Clarke, Linda, McGuinness, Myra B., Meteoukki, Wafaa, Samuel, Sona, Ruddle, Jonathan B., Chen, Celia, Fraser, Clare L., Harrison, John, Hewitt, Alex W., Howell, Neil, Mackey, David A.
Publicado 2021

Pathogenic genetic variants identified in Australian families with paediatric cataract

por Jones, Johanna L, McComish, Bennet J, Staffieri, Sandra E, Souzeau, Emmanuelle, Kearns, Lisa S, Elder, James E, Charlesworth, Jac C, Mackey, David A, Ruddle, Jonathan B, Taranath, Deepa, Pater, John, Casey, Theresa, Craig, Jamie E, Burdon, Kathryn P
Publicado 2022

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

por Shaaban, Sherin, MacKinnon, Sarah, Andrews, Caroline, Staffieri, Sandra E., Maconachie, Gail D. E., Chan, Wai-Man, Whitman, Mary C., Morton, Sarah U., Yazar, Seyhan, MacGregor, Stuart, Elder, James E., Traboulsi, Elias I., Gottlob, Irene, Hewitt, Alex W., Hunter, David G., Mackey, David A., Engle, Elizabeth C.
Publicado 2018

Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort

por Souzeau, Emmanuelle, Siggs, Owen M., Mullany, Sean, Schmidt, Joshua M., Hassall, Mark M., Dubowsky, Andrew, Chappell, Angela, Breen, James, Bae, Haae, Nicholl, Jillian, Hadler, Johanna, Kearns, Lisa S., Staffieri, Sandra E., Hewitt, Alex W., Mackey, David A., Gupta, Aanchal, Burdon, Kathryn P., Klebe, Sonja, Craig, Jamie E., Mills, Richard A.
Publicado 2022

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

por Mackey, David A., Ong, Jue-Sheng, MacGregor, Stuart, Whiteman, David C., Craig, Jamie E., Lopez Sanchez, M. Isabel G., Kearns, Lisa S., Staffieri, Sandra E., Clarke, Linda, McGuinness, Myra B., Meteoukki, Wafaa, Samuel, Sona, Ruddle, Jonathan B., Chen, Celia, Fraser, Clare L., Harrison, John, Howell, Neil, Hewitt, Alex W.
Publicado 2023

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

Sex, gender, and retinoblastoma: analysis of 4351 patients from 153 countries

por Fabian, Ido Didi, Khetan, Vikas, Stacey, Andrew W., Allen Foster, Ademola-Popoola, Dupe S., Berry, Jesse L., Cassoux, Nathalie, Chantada, Guillermo L., Hessissen, Laila, Kaliki, Swathi, Kivelä, Tero T., Luna-Fineman, Sandra, Munier, Francis L., Reddy, M. Ashwin, Rojanaporn, Duangnate, Blum, Sharon, Sherief, Sadik T., Staffieri, Sandra E., Theophile, Tuyisabe, Waddell, Keith, Ji, Xunda, Astbury, Nicholas J., Bascaran, Covadonga, Burton, Matthew, Zondervan, Marcia, Bowman, Richard
Publicado 2021

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

por Tenney, Alan P., Di Gioia, Silvio Alessandro, Webb, Bryn D., Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J., Barry, Brenda J., Ray, Tammy, Kosicki, Michael, Robson, Caroline D., Zhang, Zhongyang, Collins, Thomas E., Gelber, Alon, Pratt, Brandon M., Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E., Van Ryzin, Carol, Lehky, Tanya J., Zalewski, Christopher, King, Kelly A., Brewer, Carmen C., Thurm, Audrey, Snow, Joseph, Facio, Flavia M., Narisu, Narisu, Bonnycastle, Lori L., Swift, Amy, Chines, Peter S., Bell, Jessica L., Mohan, Suresh, Whitman, Mary C., Staffieri, Sandra E., Elder, James E., Demer, Joseph L., Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A., Brady, Angela F., Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W., Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H., Parker, Stephen C. J., Hadlock, Tessa A., Vissers, Lisenka E. L. M., van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S., Pennacchio, Len A., Manoli, Irini, Engle, Elizabeth C.
Publicado 2023

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

por Iglesias, Adriana I., Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N. Cooke, Willoughby, Colin E., Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P., Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L., Kearns, Lisa S., Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M., Taylor, Kent D., Bonnemaijer, Pieter, Rotter, Jerome I., Martin, Nicholas G., Zeller, Tanja, Mills, Richard A., Souzeau, Emmanuelle, Staffieri, Sandra E., Jonas, Jost B., Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H., Lucas, Sionne E. M., Wong, Tien Yin, Beutel, Manfred E., Wilson, James F., Uitterlinden, André G., Vithana, Eranga N., Foster, Paul J., Hysi, Pirro G., Hewitt, Alex W., Khor, Chiea Chuen, Pasquale, Louis R., Montgomery, Grant W., Klaver, Caroline C. W., Aung, Tin, Pfeiffer, Norbert, Mackey, David A., Hammond, Christopher J., Cheng, Ching-Yu, Craig, Jamie E., Rabinowitz, Yaron S., Wiggs, Janey L., Burdon, Kathryn P., van Duijn, Cornelia M., MacGregor, Stuart
Publicado 2018

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

por Iglesias, Adriana I., Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N. Cooke, Willoughby, Colin E., Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P., Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L., Kearns, Lisa S., Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M., Taylor, Kent D., Bonnemaijer, Pieter, Rotter, Jerome I., Martin, Nicholas G., Zeller, Tanja, Mills, Richard A., Souzeau, Emmanuelle, Staffieri, Sandra E., Jonas, Jost B., Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H., Lucas, Sionne E. M., Wong, Tien Yin, Beutel, Manfred E., Wilson, James F., Uitterlinden, André G., Vithana, Eranga N., Foster, Paul J., Hysi, Pirro G., Hewitt, Alex W., Khor, Chiea Chuen, Pasquale, Louis R., Montgomery, Grant W., Klaver, Caroline C. W., Aung, Tin, Pfeiffer, Norbert, Mackey, David A., Hammond, Christopher J., Cheng, Ching-Yu, Craig, Jamie E., Rabinowitz, Yaron S., Wiggs, Janey L., Burdon, Kathryn P., van Duijn, Cornelia M., MacGregor, Stuart
Publicado 2019

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 2014