World's Best Scientists 2026 revealed!
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Genetics
USA
2024

D-Index & Metrics

Genetics

D-Index
135
Citations
59689
World Ranking
219
National Ranking
112

Medicine

D-Index
139
Citations
63434
World Ranking
1773
National Ranking
1014

Research.com Recognitions

  • 2024 - Research.com Genetics in United States Leader Award
  • 2023 - Research.com Genetics in United States Leader Award

Overview

Edwin M. Stone is affiliated with the University of Iowa in the United States. Their research spans multiple areas within medicine and biochemistry, genetics, and molecular biology. Stone's scholarly output reflects a focus on ophthalmology and molecular biology, with notable contributions to radiology, nuclear medicine, imaging, cellular and molecular neuroscience, and immunology.

The scientist's recent publications highlight engagement with retinal research and ocular biology, particularly through gene expression and single-cell sequencing approaches. Noteworthy papers include:

  • Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis, 2020, Experimental Eye Research
  • Bulk and single-cell gene expression analyses reveal aging human choriocapillaris has pro-inflammatory phenotype, 2020, Microvascular Research
  • Single-cell RNA sequencing in vision research: Insights into human retinal health and disease, 2020, Progress in Retinal and Eye Research
  • Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration, 2022, Human Molecular Genetics
  • Retinal Tropism and Transduction of Adeno-Associated Virus Varies by Serotype and Route of Delivery (Intravitreal, Subretinal, or Suprachoroidal) in Rats, 2020, Human Gene Therapy

Their primary research topics encompass retinal development and disorders, retinal diseases and treatments, retinal imaging and analysis, as well as single-cell and spatial transcriptomics. Additional topics of research include glaucoma and retinal disorders, CRISPR and genetic engineering, and neuroscience and neural engineering.

Frequent co-authors collaborating with Stone include:

  • Robert F. Mullins
  • Budd A. Tucker
  • Ian C. Han
  • Andrew P. Voigt
  • Nathaniel K. Mullin

Scientific output is distributed across several key publication venues, with multiple papers published in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Experimental Eye Research
  • Human Molecular Genetics
  • Ophthalmology Retina
  • JAMA Ophthalmology

The main fields of study for Stone include Medicine with 111 publications and Biochemistry, Genetics and Molecular Biology with 102 publications. Within these fields, their work in molecular biology and ophthalmology stands out, supported by research bridging imaging techniques and cellular neuroscience. The relative volume of publications indicates sustained involvement in both fundamental molecular studies and clinical vision science applications.

Best Publications

  • Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

    Albert M. Maguire;Francesca Simonelli;Eric A. Pierce;Edward N. Pugh

  • Identification of a Gene That Causes Primary Open Angle Glaucoma

    Edwin M. Stone;John H. Fingert;Wallace L. M. Alward;Thai D. Nguyen

  • 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

  • Mutations in the SMAD4/DPC4 gene in juvenile polyposis.

    James R. Howe;Stina Roth;John C. Ringold;Robert W. Summers

  • 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 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

  • 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

  • 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

  • Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations

    John H. Fingert;Elise Héon;Jeffrey M. Liebmann;Tetsuya Yamamoto

  • Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

    Val C. Sheffield;Edwin M. Stone;Wallace L.M. Alward;Arlene V. Drack

  • Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)

    W. L. M. Alward;J. H. Fingert;M. A. Coote;A. T. Johnson

  • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

    Neena B. Haider;Samuel G. Jacobson;Artur V. Cideciyan;Ruth Swiderski

  • The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

    Darryl Y. Nishimura;Ruth E. Swiderski;Wallace L. M. Alward;Charles C. Searby

  • A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

    Edwin M. Stone;Andrew J. Lotery;Francis L. Munier;Elise Héon

  • Homozygosity Mapping With SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11)

    Annie P. Chiang;John S. Beck;Hsan Jan Yen;Marwan K. Tayeh

  • Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde-3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle.

    Achilles Dugaiczyk;Jay A. Haron;Edwin M. Stone;Olivia E. Dennison

  • Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

    Edwin M. Stone

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

    Richard G. Weleber;Ronald E. Carr;Ronald E. Carr;Ronald E. Carr;William H. Murphey;Val C. Sheffield

  • Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

    Kirk Mykytyn;Darryl Y. Nishimura;Charles C. Searby;Mythreyi Shastri

Frequent Co-Authors

Val C. Sheffield
Val C. Sheffield University of Iowa
Robert F. Mullins
Robert F. Mullins University of Iowa
Budd A. Tucker
Budd A. Tucker University of Iowa
Samuel G. Jacobson
Samuel G. Jacobson University of Pennsylvania
John H. Fingert
John H. Fingert University of Iowa
Todd E. Scheetz
Todd E. Scheetz University of Iowa
Artur V. Cideciyan
Artur V. Cideciyan University of Pennsylvania
Gerald A. Fishman
Gerald A. Fishman University of Illinois at Chicago
Tomas S. Aleman
Tomas S. Aleman University of Pennsylvania
Elise Héon
Elise Héon University of Toronto

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