World's Best Scientists 2026 revealed!

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Genetics

D-Index
133
Citations
59888
World Ranking
235
National Ranking
121

Medicine

D-Index
134
Citations
60783
World Ranking
2163
National Ranking
1223

Research.com Recognitions

  • 2020 - Fellow of the American Academy of Arts and Sciences

Overview

Val C. Sheffield is affiliated with the University of Iowa in the United States. Their research spans several interconnected fields, primarily centered on genetics, molecular biology, and medicine. Their work contributes to areas such as biochemistry, genetics, and molecular biology with a particular focus on genetics and molecular mechanisms.

The scientist's main research fields include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Subfields of study they focus on comprise:

  • Genetics
  • Molecular Biology
  • Cell Biology
  • Ophthalmology
  • Physiology

Their research topics cover several specialized areas, including:

  • Genetic and Kidney Cyst Diseases
  • Genetic Syndromes and Imprinting
  • Retinal Development and Disorders
  • Hedgehog Signaling Pathway Studies
  • Glaucoma and retinal disorders
  • Cellular transport and secretion
  • Electromagnetic Fields and Biological Effects

Val C. Sheffield has been involved in publishing papers in multiple venues, with frequent contributions to:

  • Cell Metabolism
  • Gene Therapy
  • Scientific Reports
  • Molecular Metabolism
  • Human Molecular Genetics

Some recent papers authored by or including Val C. Sheffield are:

  • "Gene therapy and gene correction: targets, progress, and challenges for treating human diseases" (2020, Gene Therapy)
  • "ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load" (2020, Nature Communications)
  • "Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes" (2020, Cell Metabolism)
  • "Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms" (2022, Investigative Ophthalmology & Visual Science)
  • "Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin" (2021, JCI Insight)

Frequent co-authors collaborating with Val C. Sheffield include:

  • Charles Searby
  • Qihong Zhang
  • Kai Wang
  • Deng-Fu Guo
  • Kamal Rahmouni

Val C. Sheffield was recognized as a Fellow of the American Academy of Arts and Sciences in 2020.

Best Publications

  • Functional impact of global rare copy number variation in autism spectrum disorders

    Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

  • Identification of a Gene That Causes Primary Open Angle Glaucoma

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

  • Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

    Val C. Sheffield;David R. Cox;Leonard S. Lerman;Richard M. Myers

  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements

    Peter Szatmari;Andrew D. Paterson;Lonnie Zwaigenbaum;Wendy Roberts

  • A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis

    Maxence V. Nachury;Alexander V. Loktev;Qihong Zhang;Christopher J. Westlake

  • Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

    Lorraine A. Everett;Benjamin Glaser;John C. Beck;Jacquelyn R. Idol

  • Comprehensive human genetic maps: individual and sex-specific variation in recombination.

    Karl W. Broman;Jeffrey C. Murray;Val C. Sheffield;Raymond L. White

  • 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

  • A genome-wide linkage and association scan reveals novel loci for autism

    Lauren A. Weiss;Lauren A. Weiss;Dan E. Arking;Mark J. Daly;Mark J. Daly;Aravinda Chakravarti

  • The Pendred syndrome gene encodes a chloride-iodide transport protein.

    Daryl A. Scott;Rong Wang;Trisha M Kreman;Val C. Sheffield

  • A comprehensive human linkage map with centimorgan density

    J C Murray;K H Buetow;J L Weber;S Ludwigsen

  • A genome-wide scan for common alleles affecting risk for autism

    Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan

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

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

  • Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

    Liyun Sang;Julie J. Miller;Kevin C. Corbit;Rachel H. Giles

  • Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.

    Roxanne Y Walder;Daniel Landau;Peter Meyer;Hanna Shalev

  • 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

  • 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

  • Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes (polymorphism and mutation detection/denaturing gradient gel electrophoresis/sickle-cell anemia/hemoglobin C)

    Val C. Sheffield;David R. Coxt;Leonard S. LERMANt;Richard M. Myers

Frequent Co-Authors

Edwin M. Stone
Edwin M. Stone University of Iowa
Charles Searby
Charles Searby University of Iowa
John H. Fingert
John H. Fingert University of Iowa
Todd E. Scheetz
Todd E. Scheetz University of Iowa
Samuel G. Jacobson
Samuel G. Jacobson University of Pennsylvania
Robert F. Mullins
Robert F. Mullins University of Iowa
Kamal Rahmouni
Kamal Rahmouni University of Iowa Health Care
Elise Héon
Elise Héon University of Toronto
Abbot F. Clark
Abbot F. Clark University of North Texas Health Science Center
Artur V. Cideciyan
Artur V. Cideciyan University of Pennsylvania

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