| Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections DC Guo, H Pannu, V Tran-Fadulu, CL Papke, RK Yu, N Avidan, ... Nature genetics 39 (12), 1488-1493, 2007 | 1018 | 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 | 452 | 2002 |
| 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 | 380 | 2010 |
| 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), 155-163, 2013 | 360 | 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 | 340 | 2011 |
| Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression JE Craig, X Han, A Qassim, M Hassall, JN Cooke Bailey, TG Kinzy, ... Nature genetics 52 (2), 160-166, 2020 | 259 | 2020 |
| 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 | 259 | 2015 |
| 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 | 185 | 1991 |
| Epigenotype–phenotype correlations in Silver–Russell syndrome EL Wakeling, SA Amero, M Alders, J Bliek, E Forsythe, S Kumar, DH Lim, ... Journal of medical genetics 47 (11), 760-768, 2010 | 182 | 2010 |
| Collagen corneal shields CE Willoughby, M Batterbury, SB Kaye Survey of ophthalmology 47 (2), 174-182, 2002 | 168 | 2002 |
| 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 | 158 | 2012 |
| 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 | 155 | 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 | 112 | 2011 |
| Mitochondrial dysfunction in glaucoma: understanding genetic influences G Lascaratos, DF Garway-Heath, CE Willoughby, KY Chau, ... Mitochondrion 12 (2), 202-212, 2012 | 111 | 2012 |
| 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 | 108 | 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, 217-230, 2015 | 106 | 2015 |
| 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 | 106 | 2013 |
| In vivo early corneal biomechanical changes after corneal cross-linking in patients with progressive keratoconus R Vinciguerra, V Romano, EM Arbabi, M Brunner, CE Willoughby, ... Journal of Refractive Surgery 33 (12), 840-846, 2017 | 99 | 2017 |
| Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases AI Iglesias, A Mishra, V Vitart, Y Bykhovskaya, R Höhn, H Springelkamp, ... Nature communications 9 (1), 1864, 2018 | 96 | 2018 |
| 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 | 94 | 2003 |