Publications
Journals
- Gregory-Evans K; Cheong-Leen R; George SM; Xie J; Moosajee M; Colapinto P; Gregory-Evans CY. (1 Aug 2011). Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE. 46:337-344. Author weblink DOI.
- Gregory-Evans CY; Moosajee M; Shan X; Gregory-Evans K. (4 Jun 2011). Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma. MOLECULAR VISION. 17:1473-1484.
- Gregory-Evans K; Chang F; Hodges MD; Gregory-Evans CY. (2009). Ex vivo gene therapy using intravitreal injection of GDNF-secreting mouse embryonic stem cells in a rat model of retinal degeneration. Mol Vis. 15:962-973.
- Moosajee M; Gregory-Evans K; Ellis CD; Seabra MC; Gregory-Evans CY. (15 Dec 2008). Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. HUMAN MOLECULAR GENETICS. 17:3987-4000. Author weblink DOI.
- Guerin K; Gregory-Evans CY; Hodges MD; Moosajee M; Mackay DS; Gregory-Evans K; Flannery JG. (1 Sep 2008). Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. EXPERIMENTAL EYE RESEARCH. 87:197-207. Author weblink DOI.
- Zaidi FH; Hull JT; Peirson SN; Wulff K; Aeschbach D; Gooley JJ; Brainard GC; Gregory-Evans K; et alRizzo JF; Czeisler CA; Foster RG; Moseley MJ; Lockley SW. (18 Dec 2007). Short-wavelength light sensitivity of circadian, pupillary, and visual awareness in humans lacking an outer retina. Curr Biol. 17:2122-2128. DOI.
- Gregory-Evans CY; Moosajee M; Hodges MD; Mackay DS; Game L; Vargesson N; Bloch-Zupan A; Rüschendorf F; et alSantos-Pinto L; Wackens G; Gregory-Evans K. (15 Oct 2007). SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. Hum Mol Genet. 16:2482-2493. DOI.
- Zaidi FH; Bremner FD; Gregory-Evans K; Cocker KD; Moseley MJ. (Sep 2006). Subretinal membranes are associated with abnormal degrees of pupil "evasion": an index of clinical macular dysfunction. Br J Ophthalmol. 90:1115-1118. DOI.
- Michaelides M; Jenkins SA; Brantley MA; Andrews RM; Waseem N; Luong V; Gregory-Evans K; Bhattacharya SS; et alFitzke FW; Webster AR. (1 Jul 2006). Maculopathy due to the R345W substitution in fibulin-3: Distinct clinical features, disease variability, and extent of retinal dysfunction. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 47:3085-3097. Author weblink DOI.
- Zaidi FH; Gair EJ; Lee N; Gregory-Evans K. (1 Apr 2006). More than meets the eye: alternatives to black-on-white visual field testing. EYE. 20:508-509. Author weblink DOI.
- Zaidi FH; Gregory-Evans K; Acheson JF; Ferguson V. (Jun 2005). Familial Bell's palsy in females: a phenotype with a predilection for eyelids and lacrimal gland. Orbit. 24:121-124. DOI.
- Burton BJ; Holder GE; Duguid G; Gregory-Evans K. (Jun 2005). Optical coherence tomography findings in benign concentric annular dystrophy. Eye (Lond). 19:699-701. DOI.
- Zaidi FH; Gregory-Evans K. (Feb 2005). Replacing the Amsler grid. Ophthalmology. 112:357. DOI.
- Gregory-Evans CY; Williams MJ; Halford S; Gregory-Evans K. (Dec 2004). Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet. 41:881-891. DOI.
- Gregory-Evans CY; Vieira H; Dalton R; Adams GG; Salt A; Gregory-Evans K. (15 Nov 2004). Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet A. 131:86-90. DOI.
- Arora A; Wren S; Gregory Evans K. (Aug 2004). Desferrioxamine related maculopathy: a case report. Am J Hematol. 76:386-388. DOI.
- Zaidi FH; Cheong-Leen R; Gair EJ; Weir R; Sharkawi E; Lee N; Gregory-Evans K. (May 2004). The Amsler chart is of doubtful value in retinal screening for early laser therapy of subretinal membranes. The West London Survey. Eye (Lond). 18:503-508. DOI.
- Toomes C; Bottomley HM; Jackson RM; Towns KV; Scott S; Mackey DA; Craig JE; Jiang L; et alYang Z; Trembath R; Woodruff G; Gregory-Evans CY; Gregory-Evans K; Parker MJ; Black GC; Downey LM; Zhang K; Inglehearn CF. (Apr 2004). Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 74:721-730. DOI.
- Zaidi FH; Gair EJ; Gregory-Evans K. (Mar 2004). Criteria for improving visual acuity in ischaemic branch retinal vein occlusion using argon laser. Eye (Lond). 18:316-318. DOI.
- Ramalho JS; Gregory-Evans K; Huxley C; Seabra MC. (Mar 2004). Mouse genetic corneal disease resulting from transgenic insertional mutagenesis. Br J Ophthalmol. 88:428-432.
- Blackburn J; Tarttelin EE; Gregory-Evans CY; Moosajee M; Gregory-Evans K. (Nov 2003). Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina. Invest Ophthalmol Vis Sci. 44:4613-4621.
- Bellingham J; Gregory-Evans K; Fox MF; Gregory-Evans CY. (19 Jun 2003). Gene structure and tissue expression of human selenoprotein W, SEPW1, and identification of a retroprocessed pseudogene, SEPW1P. Biochim Biophys Acta. 1627:140-146.
- Wong SC; Fong KC; Lee N; Gregory-Evans K; Gregory-Evans CY. (Jun 2003). Successful photodynamic therapy for subretinal neovascularisation due to Sorsby's fundus dystrophy: 1 year follow up. Br J Ophthalmol. 87:796-797.
- Tarttelin EE; Bellingham J; Bibb LC; Foster RG; Hankins MW; Gregory-Evans K; Gregory-Evans CY; Wells DJ; et alLucas RJ. (Mar 2003). Expression of opsin genes early in ocular development of humans and mice. Exp Eye Res. 76:393-396.
- Sarangapani S; Chang L; Gregory-Evans K. (Nov 2002). Cataract surgery in Senior-Loken syndrome is beneficial despite severe retinopathy. Eye (Lond). 16:782-785. DOI.
- Hodges MD; Vieira H; Gregory-Evans K; Gregory-Evans CY. (Nov 2002). Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse. Genomics. 80:531-542.
- Vieira H; Gregory-Evans K; Lim N; Brookes JL; Brueton LA; Gregory-Evans CY. (Aug 2002). First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1. Invest Ophthalmol Vis Sci. 43:2540-2545.
- Talks SJ; Ebenezer N; Hykin P; Adams G; Yang F; Schulenberg E; Gregory-Evans K; Gregory-Evans CY. (Dec 2001). De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity. J Med Genet. 38:E46.
- Bibb LC; Holt JK; Tarttelin EE; Hodges MD; Gregory-Evans K; Rutherford A; Lucas RJ; Sowden JC; et alGregory-Evans CY. (15 Jul 2001). Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development. Hum Mol Genet. 10:1571-1579.
- Tarttelin EE; Gregory-Evans CY; Bird AC; Weleber RG; Klein ML; Blackburn J; Gregory-Evans K. (Jun 2001). Molecular genetic heterogeneity in autosomal dominant drusen. J Med Genet. 38:381-384.
- Gregory-Evans CY; Hodges MD; Gregory-Evans K. (15 Mar 2001). Characterisation of the CRXcDNA: identification of alternatively spliced upstream exons and two polyadenylation sites within the 3 ' UTR. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 42:S189-S189. Author weblink.
- Gregory-Evans K; Talks SJ; Hykin P; Adams G; Yang YF; Schulenberg E; Gregory-Evans CY. (15 Mar 2001). De novo mutations in the 5 regulatory region of the Norrie's disease gene in retinopathy of prematurity in the UK. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 42:S682-S682. Author weblink.
- Jain R; d'Esposito F; Harmann F; Vieira H; Ruben S; Gregory-Evans C; Gregory-Evans K. (15 Mar 2001). Hypoplastic iris with late-onset glaucoma genetically linked to chromosome 6p - a new genetic entity. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 42:S531-S531. Author weblink.
- Talks, SJ; Ebenezer, N; Hykin, P; Adams, G; Yang, F; Schulenberg, E; Gregory-Evans, K; Gregory-Evans, CY. (2001). De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity. J Med Genet. 12, 38:E46-1-E46-7.
- Malhotra R; Gregory-Evans K. (Dec 2000). Management of ocular ischaemic syndrome. Br J Ophthalmol. 84:1428-1431.
- Gregory-Evans K. (Jul 2000). What is Sorsby's fundus dystrophy?. Br J Ophthalmol. 84:679-680.
- Gregory-Evans CY; Bibb LC; Holt JKL; Swoden JC; Gregory-Evans K. (15 Mar 2000). Expression of the CRX gene in human retina during early eye development. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 41:S758-S758. Author weblink.
- Tarttellin EE; Gregory-Evans K; Bird AC; Weleber RG; Klein M; Gregory-Evans CY. (15 Mar 2000). Molecular genetic heterogenity in autosomal dominant drusen. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 41:S198-S198. Author weblink.
- Gregory-Evans K; Gregory-Evans CY; Holder GE; Hunt DM; Bird AC; Moore AT. (15 Mar 2000). Negative b-wave electroretinogram suggests a novel mechanism of photoreceptor cell death in human GUCY2D-mutant cone-rod retinal dystrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 41:S889-S889. Author weblink.
- Gregory-Evans K; Kelsell RE; Gregory-Evans CY; Downes SM; Fitzke FW; Holder GE; Simunovic M; Mollon JD; et alTaylor R; Hunt DM; Bird AC; Moore AT. (Jan 2000). Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. Ophthalmology. 107:55-61.
- Small KW; Udar N; Yelchits S; Klein R; Garcia C; Gallardo G; Puech B; Puech V; et alSaperstein D; Lim J; Haller J; Flaxel C; Kelsell R; Hunt D; Evans K; Lennon F; Pericak-Vance M. (29 Dec 1999). North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. Mol Vis. 5:38.
- Tarttelin EE; Kirschner LS; Bellingham J; Baffi J; Taymans SE; Gregory-Evans K; Csaky K; Stratakis CA; et alGregory-Evans CY. (24 Jun 1999). Cloning and characterization of a novel orphan G-protein-coupled receptor localized to human chromosome 2p16. Biochem Biophys Res Commun. 260:174-180. DOI.
- Kermani S; Gregory-Evans K; Tarttelin EE; Bellingham J; Plant C; Bird AC; Fox M; Bhattacharya SS; et alGregory-Evans CY. (Jan 1999). Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD). Hum Genet. 104:77-82.
- Bellingham J; Gregory-Evans K; Gregory-Evans CY. (18 Dec 1998). Sequence and tissue expression of a novel human carbonic anhydrase-related protein, CARP-2, mapping to chromosome 19q13.3. Biochem Biophys Res Commun. 253:364-367. DOI.
- Gregory-Evans K; Fariss RN; Possin DE; Gregory-Evans CY; Milam AH. (Dec 1998). Abnormal cone synapses in human cone-rod dystrophy. Ophthalmology. 105:2306-2312. DOI.
- Reichel MB; Kelsell RE; Fan J; Gregory CY; Evans K; Moore AT; Hunt DM; Fitzke FW; et alBird AC. (Oct 1998). Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. Br J Ophthalmol. 82:1162-1168.
- Kelsell RE; Gregory-Evans K; Gregory-Evans CY; Holder GE; Jay MR; Weber BH; Moore AT; Bird AC; et alHunt DM. (Jul 1998). Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Hum Genet. 63:274-279. DOI.
- Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; et alMoore AT; Hunt DM. (Jul 1998). Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet. 7:1179-1184.
- Bellingham J; Gregory-Evans CY; Gregory-Evans K. (1 Jun 1998). Microsatellite markers for the cone-rod retinal dystrophy gene, CRX, on 19q13.3. JOURNAL OF MEDICAL GENETICS. 35:527-527. Author weblink DOI.
- Bellingham J; Gregory-Evans K; Gregory-Evans CY. (May 1998). A polymorphic dinucleotide repeat in the 5' flanking region of the human interleukin 11 (IL11) gene. Immunogenetics. 47:499-500.
- Bellingham J; Gregory-Evans K; Gregory-Evans CY. (May 1998). Mapping of human interferon regulatory factor 3 (IRF3) to chromosome 19q13.3-13.4 by an intragenic polymorphic marker. Ann Hum Genet. 62:231-234. DOI.
- Gregory-Evans K; Bhattacharya SS. (Mar 1998). Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 14:103-108.
- Evans K; Gregory CY; Wijesuriya SD; Kermani S; Jay MR; Plant C; Bird AC. (Jul 1997). Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy. Arch Ophthalmol. 115:904-910.
- Kelsell RE; Evans K; Gregory CY; Moore AT; Bird AC; Hunt DM. (Apr 1997). Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet. 6:597-600.
- Al-Maghtheh M; Vithana E; Tarttelin E; Jay M; Evans K; Moore T; Bhattacharya S; Inglehearn CF. (Oct 1996). Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. Am J Hum Genet. 59:864-871.
- Gregory CY; Evans K; Wijesuriya SD; Kermani S; Jay MR; Plant C; Cox N; Bird AC; et alBhattacharya SS. (Jul 1996). The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet. 5:1055-1059.
- Godley BF; Tiffin PA; Evans K; Kelsell RE; Hunt DM; Bird AC. (Jun 1996). Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. Ophthalmology. 103:893-898.
- Evans K; al-Maghtheh M; Fitzke FW; Moore AT; Jay M; Inglehearn CF; Arden GB; Bird AC. (Sep 1995). Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Br J Ophthalmol. 79:841-846.
- Kelsell RE; Godley BF; Evans K; Tiffin PA; Gregory CY; Plant C; Moore AT; Bird AC; et alHunt DM. (Sep 1995). Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet. 4:1653-1656.
- Gregory CY; Evans K; Bhattacharya SS. (Mar 1995). Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval. J Med Genet. 32:224-226.
- Gregory CY; Wijesuriya S; Evans K; Jay M; Bird AC; Bhattacharya SS. (Mar 1995). Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. J Med Genet. 32:240-241.
- Holz FG; Evans K; Gregory CY; Bhattacharya S; Bird AC. (Feb 1995). Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy. Arch Ophthalmol. 113:178-184.
- Evans K; Duvall-Young J; Fitzke FW; Arden GB; Bhattacharya SS; Bird AC. (Feb 1995). Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype. Arch Ophthalmol. 113:195-201.
- Gregory CY; Evans K; Whittaker JL; Fryer A; Weissenbach J; Bhattacharya SS. (Nov 1994). Refinement of the cone-rod retinal dystrophy locus on chromosome 19q. Am J Hum Genet. 55:1061-1063.
- Evans K; Fryer A; Inglehearn C; Duvall-Young J; Whittaker JL; Gregory CY; Butler R; Ebenezer N; et alHunt DM; Bhattacharya S. (Feb 1994). Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nat Genet. 6:210-213. DOI.
- al-Maghtheh M; Inglehearn CF; Keen TJ; Evans K; Moore AT; Jay M; Bird AC; Bhattacharya SS. (Feb 1994). Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet. 3:351-354.
Chapters in books
- Weleber RG; Gregory-Evans K. Retinitis pigmentosa and allied disorders. In Retina. 362-460. Ryan SJ (ed). Mosby, Inc., St Louis, Missouri, USA (2001).
- Gregory-Evans G; Bird AC. Hereditary pigmentary retinal and macular dystrophies. In Oxford textbook of Ophthalmology. 607-612. Easty (ed); Sparrow J (ed). Oxford University Press (1999).
Conferences
- Gregory-Evans CY; Vieira H; Williams MJ; Gregory-Evans K. Ocular coloboma: new genes and old. 14th Genetics-Societys-Mammalian-Genetics-and-Development Workshop. 84:121-121. (Oct 2004).
- Gregory-Evans K; Tulloch M; Gregory-Evans CY. Fibulin-3 gene mutation leads to upregulation of chaperone proteins and apoptosis in retinal pigment epithelium. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology, 24 Apr 2004 - 29 Apr 2004. 45:U323-U323. ASSOC RESEARCH VISION OPHTHALMOLOGY INC (1 Apr 2004). Author weblink.
- Zaidi F; Gregory-Evans K; Moseley M. Macula dysfunction in subretinal neovascular membranes results in significant papillary escape. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology. 45:U63-U63. (Apr 2004).
- Toomes C; Bottomley HM; Jackson RM; Towns KV; Mackey DA; Craig JE; Gregory-Evans K; Downey LM; et alZhang K; Inglehearn CF. Mutations in LRP5 or FZD4 underlie the common FEVR locus on chromosome 11q13. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology. 45:U382-U382. (Apr 2004).
- Guerin KI; Gregory-Evans C; Gregory-Evans K; Flannery J. Systemic treatment with Gentamicin slows photoreceptor degeneration in the S334ter-4 rat model of Retinitis Pigmentosa. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology, 24 Apr 2004 - 29 Apr 2004. 45:U352-U352. ASSOC RESEARCH VISION OPHTHALMOLOGY INC (1 Apr 2004). Author weblink.
- Blackburn J; Gregory-Evans CY; Gregory-Evans K. Expression and transcriptional regulation of the FBLN3 gene causing dominant drusen ocular phenotype. 13th Genetics-Societys Mammalian Genetics and Development Workshop. 81:239-239. (Jun 2003).
- Vieira H; Gregory-Evans K; Harmann F; Ormestad M; D'Esposito F; Jain R; Ruben S; Carlsson P; et alGregory-Evans CY. Mutation of the forkhead gene FOXF2 causes iris hypoplasia and glaucoma. 13th Genetics-Societys Mammalian Genetics and Development Workshop, 27 Nov 2002 - 28 Nov 2002. 81:231-231. CAMBRIDGE UNIV PRESS (1 Jun 2003). Author weblink.
- Gregory-Evans CY; Hodges MD; Gregory-Evans K. Characterization of the genomic and transcriptional structure of the CRX gene: Substantial differences between the human and mouse genes. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology. 43:U321-U321. (May 2002).
- Vieira HM; Lim N; Brookes JL; Breuton LA; Gregory-Evans K; Gregory-Evans CY. Oculo-oto-dental syndrome: Linkage to 20q13.1. Annual Meeting of the Association-for-Research-in-Vision-and-Ophthalmology. 43:U175-U175. (May 2002).


