Colin Willoughby
Colin Willoughby
Professor of Ophthalmology
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Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
DC Guo, H Pannu, V Tran-Fadulu, CL Papke, KY Robert, N Avidan, ...
Nature genetics 39 (12), 1488-1493, 2007
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
G Richard, F Rouan, CE Willoughby, N Brown, P Chung, M Ryynänen, ...
The American Journal of Human Genetics 70 (5), 1341-1348, 2002
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya, A Mirshahi, ...
Nature genetics 45 (2), 155, 2013
Mutation altering the miR-184 seed region causes familial keratoconus with cataract
AE Hughes, DT Bradley, M Campbell, J Lechner, DP Dash, DA Simpson, ...
The American Journal of Human Genetics 89 (5), 628-633, 2011
Intraspecific variation and sexual dimorphism in cranial and dental variables among higher primates and their bearing on the hominid fossil record.
BA Wood, Y Li, C Willoughby
Journal of Anatomy 174, 185, 1991
Anatomy and physiology of the human eye: effects of mucopolysaccharidoses disease on structure and function–a review
CE Willoughby, D Ponzin, S Ferrari, A Lobo, K Landau, Y Omidi
Clinical & Experimental Ophthalmology 38, 2-11, 2010
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
Collagen corneal shields
CE Willoughby, M Batterbury, SB Kaye
Survey of ophthalmology 47 (2), 174-182, 2002
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus
KP Burdon, S Macgregor, Y Bykhovskaya, S Javadiyan, X Li, KJ Laurie, ...
Investigative ophthalmology & visual science 52 (11), 8514-8519, 2011
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa
DA Simpson, GR Clark, S Alexander, G Silvestri, CE Willoughby
Journal of medical genetics 48 (3), 145-151, 2011
Keratoconus in 18 pairs of twins
SJ Tuft, H Hassan, S George, DG Frazer, CE Willoughby, P Liskova
Acta ophthalmologica 90 (6), e482-e486, 2012
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
L Zhao, F Wang, H Wang, Y Li, S Alexander, K Wang, CE Willoughby, ...
Human genetics 134 (2), 217-230, 2015
Mutational screening of VSX1 in keratoconus patients from the European population
DP Dash, S George, D O'prey, D Burns, S Nabili, U Donnelly, AE Hughes, ...
Eye 24 (6), 1085-1092, 2010
Mitochondrial dysfunction in glaucoma: understanding genetic influences
G Lascaratos, DF Garway-Heath, CE Willoughby, KY Chau, ...
Mitochondrion 12 (2), 202-212, 2012
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract
CE Willoughby, S Arab, R Gandhi, S Zeinali, S Arab, D Luk, G Billingsley, ...
Journal of medical genetics 40 (11), e124-e124, 2003
Mutational analysis of MIR184 in sporadic keratoconus and myopia
J Lechner, HA Bae, J Guduric-Fuchs, A Rice, G Govindarajan, S Siddiqui, ...
Investigative ophthalmology & visual science 54 (8), 5266-5272, 2013
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma
CE Willoughby, LLY Chan, S Herd, G Billingsley, N Noordeh, AV Levin, ...
Investigative ophthalmology & visual science 45 (9), 3122-3130, 2004
CRYBB1 mutation associated with congenital cataract and microcornea
CE Willoughby, A Shafiq, W Ferrini, LL Chan, G Billingsley, M Priston, ...
Mol Vis 11, 587-93, 2005
Simplifying collection of corneal specimens in cases of suspected bacterial keratitis
SB Kaye, PG Rao, G Smith, JA Scott, S Hoyles, CE Morton, C Willoughby, ...
Journal of Clinical Microbiology 41 (7), 3192-3197, 2003
Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations
E Di Iorio, SB Kaye, D Ponzin, V Barbaro, S Ferrari, E Böhm, P Nardiello, ...
Ophthalmology 119 (1), 74-83, 2012
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