2006 - Fellow of the Royal Society of Edinburgh
Shomi S. Bhattacharya focuses on Genetics, Retinitis pigmentosa, Locus, Genetic heterogeneity and Missense mutation. All of his Genetics and Gene, Genetic linkage, Exon, Gene mapping and Mutation investigations are sub-components of the entire Genetics study. His work deals with themes such as Retinal degeneration, Retinal pigment epithelium and Positional cloning, which intersect with Retinitis pigmentosa.
His Locus research includes themes of Genetic marker, Point mutation and Haplotype. His Genetic heterogeneity study integrates concerns from other disciplines, such as Genetic counseling, Age-related cataract and Candidate gene. His work carried out in the field of Missense mutation brings together such families of science as Exome sequencing and Frameshift mutation.
Shomi S. Bhattacharya mostly deals with Genetics, Retinitis pigmentosa, Locus, Gene and Genetic linkage. His Genetics research focuses on Mutation, Genetic heterogeneity, Retinal degeneration, Candidate gene and Gene mapping. His Retinitis pigmentosa research incorporates elements of Retinal pigment epithelium, Molecular biology, Allele and Exon.
His research in Locus intersects with topics in Microsatellite and Haplotype. His research in Missense mutation and Phenotype are components of Gene. His study looks at the intersection of Genetic linkage and topics like Genetic marker with X chromosome.
His primary areas of study are Genetics, Retinitis pigmentosa, Cell biology, Mutation and Retinal degeneration. His work is connected to PRPF31, Gene, Exome sequencing, Missense mutation and Candidate gene, as a part of Genetics. His study in Missense mutation is interdisciplinary in nature, drawing from both Proband and Locus.
He focuses mostly in the field of Locus, narrowing it down to matters related to Single-nucleotide polymorphism and, in some cases, Haplotype, Odds ratio and Genetic linkage. In his study, Molecular biology is inextricably linked to Exon, which falls within the broad field of Retinitis pigmentosa. He combines subjects such as Embryonic stem cell, Retina, Retinal and Mutant with his study of Cell biology.
His scientific interests lie mostly in Genetics, Retinitis pigmentosa, Retinal degeneration, Mutation and Exome sequencing. His study in Genetics focuses on Missense mutation, Genetic heterogeneity, Allele, Gene and Genome-wide association study. In his study, NMNAT1 is strongly linked to Locus, which falls under the umbrella field of Missense mutation.
His Genetic heterogeneity study combines topics from a wide range of disciplines, such as Macular degeneration, Gene mutation and Candidate gene. The study incorporates disciplines such as Retinal pigment epithelium, Molecular biology and Exon in addition to Retinitis pigmentosa. As a part of the same scientific family, he mostly works in the field of Mutation, focusing on Rod-cone dystrophy and, on occasion, Retinal telangiectasia and CRB1.
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Effect of gene therapy on visual function in Leber's congenital amaurosis.
James W B Bainbridge;Alexander J Smith;Susie S Barker;Scott Robbie.
The New England Journal of Medicine (2008)
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
C Alexander;M Votruba;U.E.A Pesch;D.L Thiselton.
Nature Genetics (2000)
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
Alan F. Wright;Christina F. Chakarova;Mai M. Abd El-Aziz;Shomi S. Bhattacharya.
Nature Reviews Genetics (2010)
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
Carol L. Freund;Cheryl Y. Gregory-Evans;Takahisa Furukawa;Myrto Papaioannou.
Cell (1997)
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
A.I. den Hollander;J.B. ten Brink;Y.J.M. de Kok;S. van Soest.
Nature Genetics (1999)
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
John Wells;John Wroblewski;Jeffrey Keen;Christopher Inglehearn.
Nature Genetics (1993)
IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome
Jessica Tyson;Lisbeth Tranebjærg;Sue Bellman;Christopher Wren.
Human Molecular Genetics (1997)
Fox's in development and disease.
Ordan J Lehmann;Jane C Sowden;Peter Carlsson;Tim Jordan.
Trends in Genetics (2003)
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
Alan Shiels;Donna Mackay;Alexander Ionides;Vanita Berry.
American Journal of Human Genetics (1998)
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
Robin R. Ali;Gian-Marco Sarra;Clare Stephens;Mahesh de Alwis.
Nature Genetics (2000)
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