Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant

por Vincent, Andrea L., Jordan, Charlotte, Sheck, Leo, Niederer, Rachel, Patel, Dipika V., McGhee, Charles N.J.
Publicado 2013

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

por Sheck, Leo, Davies, Wayne I.L., Moradi, Phillip, Robson, Anthony G., Kumaran, Neruban, Liasis, Alki C., Webster, Andrew R., Moore, Anthony T., Michaelides, Michel
Publicado 2018

Panel‐based genetic testing for inherited retinal disease screening 176 genes

por Sheck, Leo H. N., Esposti, Simona D., Mahroo, Omar A., Arno, Gavin, Pontikos, Nikolas, Wright, Genevieve, Webster, Andrew R., Khan, Kamron N., Michaelides, Michel
Publicado 2021