Shomi S. Bhattacharya

发表

Positional cloning of the RP11 gene; Deeper contig of the region, and identification of new candidate genes

M Al-Maghtheh, Eranga N. Vithana, Shomi S. Bhattacharya, 1999 .

Comparison and analysis of different human GCAP1 mutants.

Shomi S. Bhattacharya, Evelyne Deery, Richard J. Newbold, 2001 .

An integrated high-density physical and gene map of the human chromosome Xp11.3-Xp11.23 encompassing multiple disease loci

Alison J. Hardcastle, Shomi S. Bhattacharya, Dawn L. Thiselton, 2001 .

Functional analyses of mutations in the MIP gene that cause cataracts in humans.

Shomi S. Bhattacharya, A. T. Moore, Fj Francis, 2001 .

RECOMBINANT-DNA MARKERS AND GENETIC-MAPPING OF X-LINKED RETINITIS-PIGMENTOSA

Shomi S. Bhattacharya, Alan F. Wright, J. F. Clayton, 1986 .

New genetic loci and gene mutations in X-linked retinal disease

Alison J. Hardcastle, Shomi S. Bhattacharya, Michael B. Gorin, 1999 .

Genetic refinement of the Doyne's Honeycomb dystrophy (DHRD) locus and a physical map spanning the disease region.

Shomi S. Bhattacharya, Sana Kermani, K Evans, 1997 .

Mutational analysis and phenotype characterisation in Best vitelliform dystrophy.

Susan M. Downes, Shomi S. Bhattacharya, A C Bird, 2000 .

Tissue specific splice variants of the human A-C1 Ha-Ras suppressor gene (HRASLS)

Shomi S. Bhattacharya, Christiane Alexander, Bernd Wissinger, 2002 .

Genetic exclusion of 2 pedigrees with primary angle closure glaucoma from loci for nanophthalmos and microphthalmia.

Tin Aung, Roger A. Hitchings, Shomi S. Bhattacharya, 2001 .

Clinical application of a high resolution genomic microarray: detection of 6p25 deletions and duplications in patients with eye anomalies.

Sue Povey, Timothy W. Gant, Rosemary Ekong, 2002 .

Visual outcome in patients with dominantly inherited cataract.

Shomi S. Bhattacharya, A. T. Moore, Acw Ionides, 1999 .

Linkage analysis of a large Amish pedigree with glaucoma.

Roger A. Hitchings, Shomi S. Bhattacharya, Louise Ocaka, 2001 .

Progress with FOXC1 gene dosage.

Sue Povey, Roger A. Hitchings, Shomi S. Bhattacharya, 2001 .

Missense changes in USH1C in a type 1 Usher patient

Shomi S. Bhattacharya, Maria Bitner-Glindzicz, Diana C. Blaydon, 2003 .

Mutations in laminush British Usher type II patients.

Annette M. Payne, Weston, Shomi S. Bhattacharya, 2000 .

New mutations in RPGR and RP2 and a new locus for X-linked retinitis pigmentosa

Alison J. Hardcastle, Shomi S. Bhattacharya, Michael B. Gorin, 1999 .

Genotype-Phenotype correlation in LCA patients with AIPL1 mutations.

Shomi S. Bhattacharya, Robert K. Koenekoop, David G. Birch, 2001 .

Iris hypoplasia associated with a 6p25 chromosmal duplication.

Roger A. Hitchings, Shomi S. Bhattacharya, Peng T. Khaw, 2000 .

Isolation & characterisation of cDNAs expressed in the human retina.

Shomi S. Bhattacharya, Annette M. Payne, M. Papaioannou, 2001 .

Mutation screening in a family with "coralliform" cataract that maps to chromosome 2q.

Shomi S. Bhattacharya, A. T. Moore, Berry, 2000 .

A gene for AD colobomatous microphthalmia maps to chromosome 6p25.

Andrew R. Webster, Annette M. Payne, Neil D. Ebenezer, 2001 .

Expression of Bcl-2 family members in the human cornea.

Neil D. Ebenezer, Shomi S. Bhattacharya, S Murray, 2001 .

Positional cloning of the gene for CHED 1: A YAC/PAC and transcript map spanning the locus on 20p11.2.

Panos Deloukas, Neil D. Ebenezer, Shomi S. Bhattacharya, 2000 .

Homozygozity mapping of a Bangladeshi family with cornea plana (CNA2) to chromosome 12.

Shomi S. Bhattacharya, Peng T. Khaw, Neil D. Ebenezer, 2000 .

Mutations in IsK underlie Jervell and Lange-Nielsen syndrome

Sue Malcolm, Shomi S. Bhattacharya, Lisbeth Tranebjærg, 1997 .

Candidate gene analysis in the RP23 genomic interval

Alison J. Hardcastle, Shomi S. Bhattacharya, Michael B. Gorin, 2001 .

Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma

Arijit Mukhopadhyay, Kunal Ray, Shomi S. Bhattacharya, 2016, BMC Medical Genomics.

Prevalence of Age-Related Macular Degeneration in Europe

Yara T. E. Lechanteur, Christine Binquet, Elena Prokofyeva, 2017, Ophthalmology.

Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness

Xavier Zanlonghi, Christian P. Hamel, Samuel G. Jacobson, 2013 .

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa with preserved para-arteriolar RPE (RP12).

Shomi S. Bhattacharya, F. Cremers, S. Bhattacharya, 2000 .

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

Shomi S. Bhattacharya, Alan F. Wright, A. Wright, 2010, Nature Reviews Genetics.