D-Index & Metrics Best Publications

D-Index & Metrics

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 108 Citations 35,743 338 World Ranking 316 National Ranking 194
Medicine D-index 110 Citations 38,673 432 World Ranking 2382 National Ranking 1385

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

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.

His most cited work include:

  • Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis (1728 citations)
  • Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis (1728 citations)
  • Identification of a Gene That Causes Primary Open Angle Glaucoma (1196 citations)

What are the main themes of his work throughout his whole career to date?

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.

He most often published in these fields:

  • Genetics (47.76%)
  • Ophthalmology (29.55%)
  • Retinal (21.70%)

What were the highlights of his more recent work (between 2014-2021)?

  • Ophthalmology (29.55%)
  • Genetics (47.76%)
  • Retinal (21.70%)

In recent papers he was focusing on the following fields of study:

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.

Between 2014 and 2021, his most popular works were:

  • Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial (562 citations)
  • Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. (126 citations)
  • Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. (126 citations)

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.

Best Publications

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)

2236 Citations

Identification of a Gene That Causes Primary Open Angle Glaucoma

Edwin M. Stone;John H. Fingert;Wallace L. M. Alward;Thai D. Nguyen.
Science (1997)

1609 Citations

Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis

James R. Howe;Stina Roth;John C. Ringold;Robert W. Summers.
Science (1998)

1035 Citations

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.
Genomics (1993)

908 Citations

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)

877 Citations

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)

734 Citations

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)

733 Citations

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)

648 Citations

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)

628 Citations

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)

566 Citations

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