Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

Por Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G., Rivera-de la Parra, David, Spokes, David M., James, Nigel, Toomes, Carmel, Inglehearn, Chris F., Ali, Manir
Publicado em 2013

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus

Por Lechner, Judith, Porter, Louise F., Rice, Aine, Vitart, Veronique, Armstrong, David J., Schorderet, Daniel F., Munier, Francis L., Wright, Alan F., Inglehearn, Chris F., Black, Graeme C., Simpson, David A., Manson, Forbes, Willoughby, Colin E.
Publicado em 2014

Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

Por Ali, Manir, Buentello-Volante, Beatriz, McKibbin, Martin, Rocha-Medina, J. Alberto, Fernandez-Fuentes, Narcis, Koga-Nakamura, Wilson, Ashiq, Aruna, Khan, Kamron, Booth, Adam P., Williams, Grange, Raashid, Yasmin, Jafri, Hussain, Rice, Aine, Inglehearn, Chris F., Zenteno, Juan Carlos
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 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)

Genetic Heterogeneity for Recessively Inherited Congenital Cataract Microcornea with Corneal Opacity

Por Khan, Kamron, Al-Maskari, Ahmed, McKibbin, Martin, Carr, Ian M., Booth, Adam, Mohamed, Moin, Siddiqui, Salina, Poulter, James A., Parry, David A., Logan, Clara V., Hashmi, Anwar, Sahi, Tehseen, Jafri, Hussain, Raashid, Yasmin, Johnson, Colin A., Markham, Alex F., Toomes, Carmel, Rice, Aine, Sheridan, Eamonn, Inglehearn, Chris F., Ali, Manir
Publicado em 2011