Shomi S. Bhattacharya
Centre National de la Recherche Scientifique(FR)Institut de la Vision(FR)Inserm(FR)Sorbonne Université(FR)Centre de Gestion Scientifique(FR)Centro Andaluz de Biología Molecular y Medicina Regenerativa(ES)University College London(GB)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Cellular transport and secretion, Mosquito-borne diseases and control, Mitochondrial Function and Pathology
Most-Cited Works
- → OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28(2000)1,310 cited
- → Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness(2012)132 cited
- → Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa(2010)89 cited
- → Confirmation of the rod cGMP phosphodiesterase β subunit (PDEβ) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test(1993)59 cited
- → Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method(1998)35 cited
- → Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD)(1999)14 cited