His primary areas of study are Genetics, Retinal degeneration, Bardet–Biedl syndrome, Ophthalmology and Retinal. His study in Gene, Locus, Candidate gene, Mutation and Retinitis pigmentosa is carried out as part of his studies in Genetics. Edwin M. Stone interconnects RPE65, Genetic enhancement, Endocrinology and Internal medicine in the investigation of issues within Retinal degeneration.
His Bardet–Biedl syndrome study deals with Polydactyly intersecting with Missense mutation. Visual acuity is the focus of his Ophthalmology research. In his study, Cell biology is inextricably linked to Retina, which falls within the broad field of Retinal.
The scientist’s investigation covers issues in Genetics, Ophthalmology, Retinal, Retina and Gene. His work is connected to Retinitis pigmentosa, Mutation, Locus, Phenotype and Genetic linkage, as a part of Genetics. In his research, Eye disease is intimately related to Retinopathy, which falls under the overarching field of Ophthalmology.
His Retina research includes elements of Pathology, Anatomy and Cell biology. His Gene study frequently links to related topics such as Molecular biology. The concepts of his Macular degeneration study are interwoven with issues in Choroid and Age related.
Edwin M. Stone focuses on Ophthalmology, Genetics, Retinal, Retina and Macular degeneration. His Gene, Genome editing, Retinitis pigmentosa, Missense mutation and Exome investigations are all subjects of Genetics research. Retinal is represented through his Retinal degeneration and Outer nuclear layer research.
His Retinal degeneration study which covers Transplantation that intersects with Bioinformatics. His Retina study combines topics in areas such as Cell, Transcriptome, Anatomy and Cell biology. Edwin M. Stone has included themes like Retinal pigment epithelium, Pathology, Choroid, Complement membrane attack complex and Age related in his Macular degeneration study.
This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Albert M. Maguire;Francesca Simonelli;Eric A. Pierce;Edward N. Pugh.
The New England Journal of Medicine (2008)
Identification of a Gene That Causes Primary Open Angle Glaucoma
Edwin M. Stone;John H. Fingert;Wallace L. M. Alward;Thai D. Nguyen.
Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
James R. Howe;Stina Roth;John C. Ringold;Robert W. Summers.
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.
Val C. Sheffield;John S. Beck;Anne E. Kwitek;Dirk W. Sandstrom.
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
Albert M. Maguire;Albert M. Maguire;Katherine A. High;Katherine A. High;Alberto Auricchio;J. Fraser Wright;J. Fraser Wright.
The Lancet (2009)
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
Artur V. Cideciyan;Tomas S. Aleman;Sanford L. Boye;Sharon B. Schwartz.
Proceedings of the National Academy of Sciences of the United States of America (2008)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Stephen Russell;Jean Bennett;Jennifer A. Wellman;Daniel C. Chung.
The Lancet (2017)
Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations
John H. Fingert;Elise Héon;Jeffrey M. Liebmann;Tetsuya Yamamoto.
Human Molecular Genetics (1999)
Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years
Samuel G. Jacobson;Artur V. Cideciyan;Ramakrishna Ratnakaram;Elise Heon.
Archives of Ophthalmology (2012)
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31
Val C. Sheffield;Edwin M. Stone;Wallace L.M. Alward;Arlene V. Drack.
Nature Genetics (1993)
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