G. Williams

Replication of the recessive STBMS1 locus but with dominant inheritance.

Brendan T Barrett, David B Elliott, Eamonn Sheridan, 2009, Investigative ophthalmology & visual science.

MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS: Genotype-Phenotype Correlation

K. Springell, M. McKibbin, C. Inglehearn, 2009, Retina.

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

M. McKibbin, C. Inglehearn, N. Fernandez-Fuentes, 2010, Molecular vision.

CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration

M. McKibbin, C. Inglehearn, P. Baxter, 2011, British Journal of Ophthalmology.

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

M. McKibbin, C. Inglehearn, N. Soumittra, 2008, Molecular vision.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.