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Molecular Case Studies

Cold Spring Harbor Molecular Case Studies is an Open Access, peer-reviewed, international journal in the field of precision medicine

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Cold Spring Harbor Molecular Case Studies

 

Cold Spring Harbor Molecular Case Studies is an Open Access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal's purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches.

The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication.

 

The journal publishes:

  • Research Reports presenting detailed case studies of individuals and small cohorts
  • Research Articles describing more extensive work using larger cohorts and/or functional analyses
  • Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene
  • Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type
  • Follow-up Reports linked to previous observations
  • Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine

 


 

 

Editorial Board

 

Editor-in-Chief:

Elaine Mardis (Nationwide Children's Hospital)

 

Deputy Editor:

Ralph DeBerardinis (University of Texas Southwestern)

 

Editors:

  • Steven Jones (University of British Columbia)
  • Stephen Kingsmore (Rady Children's Hospital)
  • Heidi Rehm (Harvard University)
  • H. Hilger Ropers (Max Planck Institute for Molecular Genetics)
  • Kenna R. Mills Shaw (MD Anderson Cancer Center)

 

Follow this link to the Editorial Board Members

 


 

 

Information for Authors

 

Follow the following links to more extensive Information for Authors:

 

 

Editorial Policies

 

Follow this link if you want to submit a contribution

 

Collection Information