Importance of Anatomical Efficacy for Disease Control in Neovascular AMD: An Expert Opinion

door Balaskas, Konstantinos, Amoaku, Winfried M., Cudrnak, Tomas, Downey, Louise M., Groppe, Markus, Mahmood, Sajjad, Mehta, Hemal, Mohamed, Quresh, Mushtaq, Bushra, Severn, Philip, Vardarinos, Athanasios, Yang, Yit C.
Gepubliceerd in Ophthalmol Ther (2021)

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

door 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
Gepubliceerd in 2010

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

door 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
Gepubliceerd in Am J Hum Genet (2016)

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

door Toomes, Carmel, Bottomley, Helen M., Jackson, Richard M., Towns, Katherine V., Scott, Sheila, Mackey, David A., Craig, Jamie E., Jiang, Li, Yang, Zhenglin, Trembath, Richard, Woodruff, Geoffrey, Gregory-Evans, Cheryl Y., Gregory-Evans, Kevin, Parker, Michael J., Black, Graeme C. M., Downey, Louise M., Zhang, Kang, Inglehearn, Chris F.
Gepubliceerd in 2004

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

door Parry, David A., Mighell, Alan J., El-Sayed, Walid, Shore, Roger C., Jalili, Ismail K., Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M., Downey, Louise M., Blain, Katharine M., Mansfield, David C., Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T., Kirkham, Jennifer, Inglehearn, Chris F.
Gepubliceerd in 2009

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

door Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Tafoya, Mark E., Karjosukarso, Dyah, Collin, Rob W.J., Topping, Joanne, Downey, Louise M., Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Gepubliceerd in Am J Hum Genet (2017)