| The pathogenesis of keratoconus AE Davidson, S Hayes, AJ Hardcastle, SJ Tuft Eye 28 (2), 189-195, 2014 | 388 | 2014 |
| Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups DA Parfitt, A Lane, CM Ramsden, AJF Carr, PM Munro, K Jovanovic, ... Cell stem cell 18 (6), 769-781, 2016 | 316 | 2016 |
| The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein CM Pusch, C Zeitz, O Brandau, K Pesch, H Achatz, S Feil, C Scharfe, ... Nature genetics 26 (3), 324-327, 2000 | 309 | 2000 |
| Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis M Michaelides, AJ Hardcastle, DM Hunt, AT Moore Survey of ophthalmology 51 (3), 232-258, 2006 | 271 | 2006 |
| 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 |
| The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium RJ Evans, N Schwarz, K Nagel-Wolfrum, U Wolfrum, AJ Hardcastle, ... Human molecular genetics 19 (7), 1358-1367, 2010 | 158 | 2010 |
| Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3 C Grayson, F Bartolini, JP Chapple, KR Willison, A Bhamidipati, SA Lewis, ... Human molecular genetics 11 (24), 3065-3074, 2002 | 150 | 2002 |
| RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections I Zito, SM Downes, RJ Patel, ME Cheetham, ND Ebenezer, SA Jenkins, ... Journal of medical genetics 40 (8), 609-615, 2003 | 147 | 2003 |
| The cone dysfunction syndromes J Aboshiha, AM Dubis, J Carroll, AJ Hardcastle, M Michaelides British Journal of Ophthalmology 100 (1), 115-121, 2016 | 145 | 2016 |
| Modeling and rescue of RP2 retinitis pigmentosa using iPSC-derived retinal organoids A Lane, K Jovanovic, C Shortall, D Ottaviani, AB Panes, N Schwarz, ... Stem cell reports 15 (1), 67-79, 2020 | 131 | 2020 |
| 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 | 130 | 2016 |
| Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families ND Ebenezer, M Michaelides, SA Jenkins, I Audo, AR Webster, ... Investigative Ophthalmology & Visual Science 46 (6), 1891-1898, 2005 | 125 | 2005 |
| Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane JP Chapple, AJ Hardcastle, C Grayson, LA Spackman, KR Willison, ... Human molecular genetics 9 (13), 1919-1926, 2000 | 124 | 2000 |
| Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study AJ Hardcastle, DL Thiselton, L Van Maldergem, BK Saha, M Jay, C Plant, ... The American Journal of Human Genetics 64 (4), 1210-1215, 1999 | 123 | 1999 |
| Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells N Schwarz, AJ Carr, A Lane, F Moeller, LL Chen, M Aguila, B Nommiste, ... Human molecular genetics 24 (4), 972-986, 2015 | 120 | 2015 |
| Unfolding retinal dystrophies: a role for molecular chaperones? JP Chapple, C Grayson, AJ Hardcastle, RS Saliba, J van der Spuy, ... Trends in Molecular Medicine 7 (9), 414-421, 2001 | 120 | 2001 |
| An integrated, functionally annotated gene map of the DXS8026–ELK1 interval on human Xp11. 3–Xp11. 23: Potential hotspot for neurogenetic disorders DL Thiselton, J McDowall, O Brandau, J Ramser, F d'Esposito, ... Genomics 79 (4), 560-572, 2002 | 119 | 2002 |
| Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7) S Johnson, S Halford, AG Morris, RJ Patel, SE Wilkie, AJ Hardcastle, ... Genomics 81 (3), 304-314, 2003 | 117 | 2003 |
| Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy AV Cideciyan, RB Hufnagel, J Carroll, A Sumaroka, X Luo, SB Schwartz, ... Human gene therapy 24 (12), 993-1006, 2013 | 106 | 2013 |
| Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31. 2-q34. 2 and 17q25. 3-qtel L Ocaka, C Zhao, JA Reed, ND Ebenezer, G Brice, T Morley, M Mehta, ... Journal of medical genetics 45 (2), 87-92, 2008 | 104 | 2008 |
Michael CheethamProfessor of Molecular Cell Biology, UCL Institute of OphthalmologyEmail được xác minh tại ucl.ac.uk
