Authors: Thiselton, DL Alexander, C Morris, A Brooks, S Rosenberg, T Eiberg, H Kjer, B Kjer, P Bhattacharya, SS Votruba, M

Citation: Dl. Thiselton et al., A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect, HUM GENET, 109(5), 2001, pp. 498-502

Authors: Alexander, C Votruba, M Pesch, UEA Thiselton, DL Mayer, S Moore, A Rodriguez, M Kellner, U Leo-Kottler, B Auburger, G Bhattacharya, SS Wissinger, B

Citation: C. Alexander et al., OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28, NAT GENET, 26(2), 2000, pp. 211-215

Authors: Hardcastle, AJ Thiselton, DL Zito, I Ebenezer, N Mah, TS Gorin, MB Bhattacharya, SS

Citation: Aj. Hardcastle et al., Evidence for a new locus for X-linked retinitis pigmentosa (RP23), INV OPHTH V, 41(8), 2000, pp. 2080-2086

Authors: Zito, I Thiselton, DL Gorin, MB Stout, JT Plant, C Bird, AC Bhattacharya, SS Hardcastle, AJ

Citation: I. Zito et al., Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating withthe RP3 locus, HUM GENET, 105(1-2), 1999, pp. 57-62

Authors: Flaxel, CJ Jay, M Thiselton, DL Nayudu, M Hardcastle, AJ Wright, A Bird, AC

Citation: Cj. Flaxel et al., Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa, BR J OPHTH, 83(10), 1999, pp. 1144-1148

Authors: Hardcastle, AJ Thiselton, DL Van Maldergem, L Saha, BK Jay, M Plant, C Taylor, R Bird, AC Bhattacharya, S

Citation: Aj. Hardcastle et al., Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study, AM J HU GEN, 64(4), 1999, pp. 1210-1215