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  1. Research article

    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

    Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart F. Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra-Knol, Egbert J. W. Redeker, Marcel M. A. M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M. A. van Ravenswaaij-Arts, Richard J. Sinke and Birgit Sikkema-Raddatz

    Published on: 4 February 2016

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BMC Medical Genomics publishes selected collections of research articles, conference proceedings, reviews and reports as supplements. While we build our new sites all supplements will be available here.

Aims and scope

BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.

Section Editors

  • Francisco Azuaje, Luxembourg Institute of Health
  • Patrick Tan, Graduate Medical School Singapore
  • Pearlly Yan, The Ohio State University

Executive Editor

  • Tim Sands, BioMed Central