| A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3) A Meindl, K Dry, K Herrmann, E Manson, A Ciccodicola, A Edgar, ... Nature genetics 13 (1), 35-42, 1996 | 575 | 1996 |
| Biallelic mutation of BEST1 causes a distinct retinopathy in humans R Burgess, ID Millar, BP Leroy, JE Urquhart, IM Fearon, E De Baere, ... The American Journal of Human Genetics 82 (1), 19-31, 2008 | 333 | 2008 |
| Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ... Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004 | 275 | 2004 |
| Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome M Tassabehji, ZM Fang, EN Hilton, J McGaughran, Z Zhao, CE de Bock, ... Human mutation 29 (8), 1017-1027, 2008 | 226 | 2008 |
| 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 | 211 | 2009 |
| Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum E Boland, J Clayton-Smith, VG Woo, S McKee, FDC Manson, L Medne, ... The American Journal of Human Genetics 81 (2), 292-303, 2007 | 201 | 2007 |
| The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase M Linari, M Ueffing, F Manson, A Wright, T Meitinger, J Becker Proceedings of the National Academy of Sciences 96 (4), 1315-1320, 1999 | 150 | 1999 |
| Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ... The American Journal of Human Genetics 99 (6), 1305-1315, 2016 | 138 | 2016 |
| Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance EMMB Wright, HL Spencer, SB Daly, FDC Manson, LAH Zeef, J Urquhart, ... The American Journal of Human Genetics 88 (6), 767-777, 2011 | 136 | 2011 |
| RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin X Shu, AM Fry, B Tulloch, FDC Manson, JW Crabb, H Khanna, ... Human Molecular Genetics 14 (9), 1183-1197, 2005 | 133 | 2005 |
| Delineation of Cohen syndrome following a large-scale genotype-phenotype screen J Kolehmainen, R Wilkinson, AE Lehesjoki, K Chandler, S Kivitie-Kallio, ... The American Journal of Human Genetics 75 (1), 122-127, 2004 | 128 | 2004 |
| MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma I Conte, KD Hadfield, S Barbato, S Carrella, M Pizzo, RS Bhat, ... Proceedings of the National Academy of Sciences 112 (25), E3236-E3245, 2015 | 116 | 2015 |
| The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1 D Hanson, PG Murray, A Sud, SA Temtamy, M Aglan, A Superti-Furga, ... The American Journal of Human Genetics 84 (6), 801-806, 2009 | 112 | 2009 |
| Sequence of the gene encoding flavocytochrome c from Shewanella putrefaciens: a tetraheme flavoenzyme that is a soluble fumarate reductase related to the membrane-bound enzymes … SL Pealing, AC Black, FDC Manson, FB Ward, SK Chapman, GA Reid Biochemistry 31 (48), 12132-12140, 1992 | 110 | 1992 |
| Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71 DY Nishimura, LM Baye, R Perveen, CC Searby, A Avila-Fernandez, ... The American Journal of Human Genetics 86 (5), 686-695, 2010 | 88 | 2010 |
| Purification and properties of a novel cytochrome: flavocytochrome c from Shewanella putrefaciens CJ Morris, AC Black, SL Pealing, FD Manson, SK Chapman, GA Reid, ... Biochemical Journal 302 (2), 587-593, 1994 | 84 | 1994 |
| ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components M Rohrbach, HL Spencer, LF Porter, EMM Burkitt-Wright, C Bürer, ... Molecular genetics and metabolism 109 (3), 289-295, 2013 | 82 | 2013 |
| RPGR-associated retinal degeneration in human X-linked RP and a murine model WC Huang, AF Wright, AJ Roman, AV Cideciyan, FD Manson, ... Investigative ophthalmology & visual science 53 (9), 5594-5608, 2012 | 78 | 2012 |
| 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 | 77 | 2009 |
| Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 75 | 2017 |
