Fox's in development and disease OJ Lehmann, JC Sowden, P Carlsson, T Jordan, SS Bhattacharya TRENDS in Genetics 19 (6), 339-344, 2003 | 471 | 2003 |
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 453 | 2016 |
Acanthamoeba keratitis: multicentre survey in England 1992–6 CF Radford, OJ Lehmann, JKG Dart British journal of ophthalmology 82 (12), 1387-1392, 1998 | 299 | 1998 |
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation KA Aldinger, OJ Lehmann, L Hudgins, VV Chizhikov, AG Bassuk, ... Nature genetics 41 (9), 1037-1042, 2009 | 282 | 2009 |
Mutations in PIK3R1 cause SHORT syndrome DA Dyment, AC Smith, D Alcantara, JA Schwartzentruber, ... The American Journal of Human Genetics 93 (1), 158-166, 2013 | 188 | 2013 |
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene T Aung, L Ocaka, ND Ebenezer, AG Morris, M Krawczak, DL Thiselton, ... Human genetics 110, 52-56, 2002 | 184 | 2002 |
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies M Ye, KM Berry-Wynne, M Asai-Coakwell, P Sundaresan, T Footz, ... Human molecular genetics 19 (2), 287-298, 2010 | 172 | 2010 |
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma OJ Lehmann, ND Ebenezer, T Jordan, M Fox, L Ocaka, A Payne, ... The American Journal of Human Genetics 67 (5), 1129-1135, 2000 | 168 | 2000 |
Polymerase chain reaction analysis of corneal epithelial and tear samples in the diagnosis of Acanthamoeba keratitis. OJ Lehmann, SM Green, N Morlet, S Kilvington, MF Keys, MM Matheson, ... Investigative ophthalmology & visual science 39 (7), 1261-1265, 1998 | 168 | 1998 |
Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene T Aung, T Rezaie, K Okada, AC Viswanathan, AH Child, G Brice, ... Investigative ophthalmology & visual science 46 (8), 2816-2822, 2005 | 166 | 2005 |
Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease CR French, S Seshadri, AL Destefano, M Fornage, CR Arnold, PJ Gage, ... The Journal of clinical investigation 124 (11), 4877-4881, 2014 | 159 | 2014 |
Risk factors for development of post-trabeculectomy endophthalmitis OJ Lehmann, C Bunce, MM Matheson, V Maurino, PT Khaw, R Wormald, ... British journal of ophthalmology 84 (12), 1349-1353, 2000 | 157 | 2000 |
Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies G Chauhan, CR Arnold, AY Chu, M Fornage, A Reyahi, JC Bis, ... The Lancet Neurology 15 (7), 695-707, 2016 | 133 | 2016 |
GDF6, a novel locus for a spectrum of ocular developmental anomalies M Asai-Coakwell, CR French, KM Berry, M Ye, R Koss, M Somerville, ... The American Journal of Human Genetics 80 (2), 306-315, 2007 | 133 | 2007 |
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes M Asai-Coakwell, CR French, M Ye, K Garcha, K Bigot, AG Perera, ... Human molecular genetics 18 (6), 1110-1121, 2009 | 116 | 2009 |
Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growth S Seo, HP Singh, PM Lacal, A Sasman, A Fatima, T Liu, KM Schultz, ... Proceedings of the National Academy of Sciences 109 (6), 2015-2020, 2012 | 115 | 2012 |
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions OJ Lehmann, ND Ebenezer, R Ekong, L Ocaka, AJ Mungall, S Fraser, ... Investigative ophthalmology & visual science 43 (6), 1843-1849, 2002 | 102 | 2002 |
Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing T Aung, ND Ebenezer, G Brice, AH Child, Q Prescott, OJ Lehmann, ... Journal of Medical Genetics 40 (8), e101-e101, 2003 | 92 | 2003 |
Axenfeld–Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome K Maclean, J Smith, LS Heaps, N Chia, R Williams, GB Peters, E Onikul, ... American Journal of Medical Genetics Part A 132 (4), 381-385, 2005 | 85 | 2005 |
Regional localization of the autosomal dominant polycystic kidney disease locus ST Reeders, T Keith, P Green, GG Germino, NJ Barton, OJ Lehmann, ... Genomics 3 (2), 150-155, 1988 | 82 | 1988 |