Section Editors

  • George Ebers, University of Oxford
  • Giovanni Neri, Università Cattolica del S. Cuore
  • Dan Rujescu, Universitätsklinikum Halle
  • David-Alexandre Tregouet, INSERM

Executive Editor

  • Tim Sands, BioMed Central


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  • Image attributed to: Mate Marschalko, CC-BY 2.0

    Rapid PCR tests from whole blood

    A PCR method can successfully amplify myotonic dystrophy type 1 alleles directly from whole blood in 15 minutes, providing a proof-of-principle for how current PCR technology can be adapted to rapid, direct genetic tests.

    BMC Medical Genetics 2014, 15:130
  • Image attributed to: User Nephron on Wikipedia

    Genetic links to carotid atherosclerosis

    Genetic variations in the genes SIRT1 and FOXO1 are found to be associated with carotid artery atherosclerosis, and specifically common carotid intima-media thickness in the large SAPHIR cohort and shows a higher effect size in women.

    BMC Medical Genetics 2014, 15:112



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BMC Medical Genetics is an open access, peer-reviewed journal that considers articles on the effects of genetic variation in individuals, families and among populations in relation to human health and disease.

BMC Medical Genetics is part of the BMC series which publishes subject-specific journals focused on the needs of individual research communities across all areas of biology and medicine. We offer an efficient, fair and friendly peer review service, and are committed to publishing all sound science, provided that there is some advance in knowledge presented by the work.

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Editor's profile


Giovanni Neri is professor and chair at the Institute of Medical Genetics of the Catholic University School of Medicine in Rome and chief of the Medical Genetics Services of the "A. Gemelli" University Hospital. He is currently serving as President of the Societá Italiana di Genetica Umana and as member of the Scientific Program Committee of the European Society of Human Genetics. He is advisory editor of the American Journal of Medical Genetics. His main research interests are in the field of mental retardation, specifically the fragile X syndrome, and of malformation syndromes, including the RASopathies and overgrowth syndromes.

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ISSN: 1471-2350