Section Editors

  • George Ebers, University of Oxford
  • Jörg Epplen, Ruhr-Universität Bochum
  • 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: Ed Euthman on Flickr, Creative Commons

    Mismatch repair gene expression in colorectal cancer

    The expression of mismatch repair genes and their promoter methylation in colorectal cancer tissues shows great variation by the location of the tumor, and promoter methylation was only seen in the MLH1 gene in a subset of tumors.

    BMC Medical Genetics 2014, 15:17
  • Mitochondrial disease diagnosis with NGS

    Genetic diagnosis of patients with suspected mitochondrial disorders using next generation sequencing finds great underlying genetics heterogeneity and that the majority did not have direct impairment of energy production, underlining the difficulties with traditional biochemical analysis.

    BMC Medical Genetics 2013, 14:118
  • Image attributed to: Mandy Jouan on Flickr, CC BY-ND 2.0

    Filling in the details on tooth decay risk

    Fine mapping identifies a functional SNP associated with higher experience of dental caries on chromosome 13 and indicates a possible mechanism and that glucocorticoid receptor expression in saliva and salivary cortisol may be biomarkers for caries risk

    BMC Medical Genetics 2013, 14:116



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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.

It is journal policy to publish work deemed by peer reviewers to be a coherent and sound addition to scientific knowledge and to put less emphasis on interest levels, provided that the research constitutes a useful contribution to the field.

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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