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

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

por Javadiyan, Shari, Lucas, Sionne E. M., Wangmo, Dechen, Ngy, Meng, Edussuriya, Kapila, Craig, Jamie E., Rudkin, Adam, Casson, Robert, Selva, Dinesh, Sharma, Shiwani, Lower, Karen M., Meucke, James, Burdon, Kathryn P.
Publicado 2018

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

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

por Hardcastle, Alison J., Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J., Davidson, Alice E., Inglehearn, Chris F., Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne E. M., Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E. Rojas, Khawaja, Anthony P., Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart T. H., Geerards, Annette J. M., Haudum, Christoph W., Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J., Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S., Krauss, Ronald M., Theusch, Elisabeth, Charlesworth, Jac C., Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A., Richardson, Andrea J., Mitchell, Paul A., Taylor, Kent D., Melles, Ronald B., Aldave, Anthony J., Mills, Richard A., Cao, Ke, Chan, Elsie, Daniell, Mark D., Wang, Jie Jin, Rotter, Jerome I., Hewitt, Alex W., MacGregor, Stuart, Klaver, Caroline C. W., Ramdas, Wishal D., Craig, Jamie E., Iyengar, Sudha K., O’Brart, David, Jorgenson, Eric, Baird, Paul N., Rabinowitz, Yaron S., Burdon, Kathryn P., Hammond, Chris J., Tuft, Stephen J., Hysi, Pirro G.
Publicado 2021