| The pathogenesis of keratoconus AE Davidson, S Hayes, AJ Hardcastle, SJ Tuft Eye 28 (2), 189-195, 2014 | 386 | 2014 |
| Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa AE Davidson, ID Millar, JE Urquhart, R Burgess-Mullan, Y Shweikh, ... The American Journal of Human Genetics 85 (5), 581-592, 2009 | 200 | 2009 |
| Retinal structure and function in achromatopsia: implications for gene therapy V Sundaram, C Wilde, J Aboshiha, J Cowing, C Han, CS Langlo, ... Ophthalmology 121 (1), 234-245, 2014 | 178 | 2014 |
| Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) TR Webb, DA Parfitt, JC Gardner, A Martinez, D Bevilacqua, AE Davidson, ... Human molecular genetics 21 (16), 3647-3654, 2012 | 170 | 2012 |
| Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis PI Sergouniotis, AE Davidson, DS Mackay, Z Li, X Yang, V Plagnol, ... The American Journal of Human Genetics 89 (1), 183-190, 2011 | 166 | 2011 |
| A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations K Fujinami, N Lois, AE Davidson, DS Mackay, CR Hogg, EM Stone, ... American journal of ophthalmology 155 (6), 1075-1088. e13, 2013 | 161 | 2013 |
| Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function K Fujinami, PI Sergouniotis, AE Davidson, G Wright, RK Chana, ... American journal of ophthalmology 156 (3), 487-501. e1, 2013 | 119 | 2013 |
| Retinal structure, function, and molecular pathologic features in gyrate atrophy PI Sergouniotis, AE Davidson, E Lenassi, SR Devery, AT Moore, ... Ophthalmology 119 (3), 596-605, 2012 | 110 | 2012 |
| RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy AE Davidson, PI Sergouniotis, DS Mackay, GA Wright, NH Waseem, ... Human Mutation 34 (3), 506-514, 2013 | 103 | 2013 |
| An overview of Grenville Province geology, Canadian shield A Davidson | 101 | 1998 |
| A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity AD Borman, LR Pearce, DS Mackay, K Nagel‐Wolfrum, AE Davidson, ... Human mutation 35 (3), 289-293, 2014 | 81 | 2014 |
| Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR) JA Poulter, AE Davidson, M Ali, DF Gilmour, DA Parry, HA Mintz-Hittner, ... Investigative ophthalmology & visual science 53 (6), 2873-2879, 2012 | 81 | 2012 |
| Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 AE Davidson, P Liskova, CJ Evans, L Dudakova, L Noskova, N Pontikos, ... The American Journal of Human Genetics 98 (1), 75-89, 2016 | 79 | 2016 |
| Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa AE Davidson, N Schwarz, L Zelinger, G Stern-Schneider, A Shoemark, ... The American Journal of Human Genetics 93 (2), 321-329, 2013 | 78 | 2013 |
| ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing R Burgess, RE MacLaren, AE Davidson, JE Urquhart, GE Holder, ... Journal of medical genetics 46 (9), 620-625, 2009 | 75 | 2009 |
| Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity C Zarouchlioti, B Sanchez-Pintado, NJH Tear, P Klein, P Liskova, K Dulla, ... The American Journal of Human Genetics 102 (4), 528-539, 2018 | 73 | 2018 |
| The clinical effect of homozygous ABCA4 alleles in 18 patients K Fujinami, PI Sergouniotis, AE Davidson, DS Mackay, K Tsunoda, ... Ophthalmology 120 (11), 2324-2331, 2013 | 70 | 2013 |
| Three different cone Opsin gene Array mutational mechanisms with genotype–phenotype correlation and functional investigation of cone Opsin variants JC Gardner, G Liew, YH Quan, B Ermetal, H Ueyama, AE Davidson, ... Human mutation 35 (11), 1354-1362, 2014 | 64 | 2014 |
| Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy AE Davidson, ID Millar, R Burgess-Mullan, GJ Maher, JE Urquhart, ... Investigative ophthalmology & visual science 52 (6), 3730-3736, 2011 | 62 | 2011 |
| CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat NJ Hafford-Tear, YC Tsai, AN Sadan, B Sanchez-Pintado, C Zarouchlioti, ... Genetics in Medicine 21 (9), 2092-2102, 2019 | 59 | 2019 |
