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CURRICULUM VITAE NAME Shom Shanker Bhattacharya, PhD ...

CURRICULUM VITAE NAME Shom Shanker Bhattacharya, PhD ...

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221. A clinical, histopathological, and genetic study of Avellino corneal<br />

dystrophy in British families. El-Ashry, M.F., El-Aziz, M.M., Larkin, D.F., Clarke,<br />

B., Cree, I.A., Hardcastle, A.J., <strong>Bhattacharya</strong>, S.S., and Ebenezer, N.D. (2003).<br />

Br J Ophthalmol. 87: 839-842.<br />

222. Fox's in development and disease. Lehmann, O.J., Sowden, J.C.,<br />

Carlsson, P., Jordan, T., and <strong>Bhattacharya</strong>, S.S. (2003). Trends Genet. 19: 339-<br />

344.<br />

223. Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation<br />

in the NRL gene. Bessant, D.A., Holder, G.E., Fitzke, F.W., Payne, A.M.,<br />

<strong>Bhattacharya</strong>, S.S., and Bird, A.C. (2003). Arch Ophthalmol. 121: 793-802.<br />

224. Novel anterior segment phenotypes resulting from forkhead gene<br />

alterations: evidence for cross-species conservation of function. Lehmann, O.J.,<br />

Tuft, S., Brice, G., Smith, R., Blixt, A., Bell, R., Johansson, B., Jordan, T.,<br />

Hitchings, R.A., Khaw, P.T., John, S.W., Carlsson, P., and <strong>Bhattacharya</strong>, S.S.<br />

(2003). Invest Ophthalmol Vis Sci. 44: 2627-2633.<br />

225. The contribution of USH1C mutations to syndromic and non-syndromic<br />

deafness in the UK. Blaydon, D.C., Mueller, R.F., Hutchin, T.P., Leroy, B.P.,<br />

<strong>Bhattacharya</strong>, S.S., Bird, A.C., Malcolm, S., and Bitner-Glindzicz, M. (2003). Clin<br />

Genet. 63:303-307.<br />

226. A clinical and molecular genetic study of a rare dominantly inherited<br />

syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and<br />

posterior staphyloma. Reddy, M.A., Francis, P.J., Berry, V., Bradshaw, K., Patel,<br />

R.J., Maher, E.R., Kumar, R., <strong>Bhattacharya</strong>, S.S., and Moore, A.T. (2003). Br J<br />

Ophthalmol. 87:197-202.<br />

227. The phenotype of normal tension glaucoma patients with and without<br />

OPA1 polymorphisms. Aung, T., Okada, K., Poinoosawmy, D., Membrey, L.,<br />

Brice, G., Child, A.H., <strong>Bhattacharya</strong>, S.S., Lehmann, O.J., Garway-Heath, D.F.,<br />

and Hitchings, R.A. (2003). Br J Ophthalmol. 87: 149-152.<br />

228. Prevalence of optineurin sequence variants in adult primary open angle<br />

glaucoma: implications for diagnostic testing. Aung, T., Ebenezer, N.D., Brice, G.,<br />

Child, A.H., Prescott, Q., Lehmann, O.J., Hitchings, R.A., and <strong>Bhattacharya</strong>, S.S.<br />

(2003). J Med Genet. 40: e101.<br />

229. Expression of PRPF31 mRNA in patients with autosomal dominant retinitis<br />

pigmentosa: a molecular clue for incomplete penetrance? Vithana, E.N., Abu-<br />

Safieh, L., Pelosini, L., Wincheste,r E., Hornan, D., Bird, A.C., Hunt, D.M., Bustin,<br />

S.A., and <strong>Bhattacharya</strong>, S.S. (2003). Invest Ophthalmol Vis Sci. 44: 4204-4209.<br />

230. Characterisation of the G91del CRYBA1/3-crystallin protein: a cause of<br />

human inherited cataract. Reddy, M.A., Bateman, O.A., Chakarova, C., Ferris, J.,<br />

Berry, V., Lomas, E., Sarra, R., Smith, M.A., Moore, A.T., <strong>Bhattacharya</strong>, S.S.,<br />

30

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