CURRICULUM VITAE NAME Shom Shanker Bhattacharya, PhD ...

281-294.
259. A Clinical and Molecular Genetic Study of Egyptian and Saudi Arabian
Patients With Primary Congenital Glaucoma (PCG). El-Ashry, M.F., Abd El-Aziz,
M.M. and Bhattacharya, S.S. (2007). J Glaucoma. 16: 104-111.
260. Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31,
in Patients with Autosomal Dominant Retinitis Pigmentosa. Waseem, N.H.,
Vaclavik, V., Webster, A., Jenkins, S.A., Bird, A.C. and Bhattacharya, S.S.
(2007). Invest Ophthalmol Vis Sci. 48: 1330-1334.
261. Novel mutations in the ZEB1 gene identified in Czech and British patients
with posterior polymorphous corneal dystrophy. Liskova, P., Tuft, S.J., Gwilliam,
R., Ebenezer, N.D., Jirsova, K., Prescott, Q., Martincova, R., Pretorius, M.,
Sinclair, N., Boase, D.L., Jeffrey, M.J., Deloukas, P., Hardcastle, A.J., Filipec, M.
and Bhattacharya, S.S. (2007). Hum Mutat. 28: 638.
262. Novel SLC4A11 mutations in patients with recessive congenital hereditary
endothelial dystrophy (CHED2). Ramprasad, V.L., Ebenezer, N.D., Aung, T.,
Rajagopal, R., Yong, V.H., Tuft, S.J., Viswanathan, D., El-Ashry, M.F., Liskova,
P., Tan, D.T., Bhattacharya, S.S., Kumaramanickavel, G. and Vithana, E.N.
(2007). Hum Mutat. 28: 522-523.
263. Mutations in splicing factor PRPF3, causing retinal degeneration, form
detrimental aggregates in photoreceptor cells. Comitato, A., Spampanato, C.,
Chakarova, C., Sanges, D., Bhattacharya, S.S. and Marigo, V. (2007). Hum Mol
Genet. 16: 1699-1707.
264. Study of p.N247S KERA mutation in a British family with cornea plana.
Liskova P, Hysi PG, Williams D, Ainsworth JR, Shah S, de la Chapelle A, Tuft SJ,
Bhattacharya SS. (2007). Mol Vis. 13: 1339-47.
265. The Roles of PAX6 and SOX2 in Myopia: Lessons from the 1958 British
Birth Cohort. Simpson CL, Hysi P, Bhattacharya SS, Hammond CJ, Webster A,
Peckham CS, Sham PC, Rahi JS. (2007). Invest Ophthalmol Vis Sci. 48: 4421-
4425.
266. Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with
perivascular retinal pigment epithelium atrophy. Chakarova, C.F., Papaioannou,
M.G., Khanna, H., Lopez, I., Waseem, N., Shah, A., Theis, T., Friedman, J.,
Maubaret, C., Bujakowska, K., Veraitch, B., Abd El-Aziz, M.M., Prescott, de Q.,
Parapuram, S.K., Bickmore, W.A., Munro, P.M., Gal, A., Hamel, C.P., Marigo, V.,
Ponting, C.P., Wissinger, B., Zrenner, E., Matter, K., Swaroop, A., Koenekoop,
R.K. and Bhattacharya, S.S. (2007). Am J Hum Genet. 81: 1098-1103.
267. An assessment of the apex microarray technology in genotyping patients
with leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson, R.H., Waseem, N., Searle, R., van der Spuy, J., Russell-Eggitt, I.,
Bhattacharya, S.S., Thompson, D.A., Holder, G.E., Cheetham, M.E., Webster,
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