Section Editors
- George Ebers, University of Oxford
- Jörg Epplen, Ruhr-Universität Bochum
- Giovanni Neri, Università Cattolica del S. Cuore
- Dan Rujescu, University of Munich LMU
- David-Alexandre Tregouet, INSERM
Executive Editor
- Tim Sands, BioMed Central
Editorial Board | Editorial Team | Instructions for authors | FAQ
Articles
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BMC Medical Genetics 2012, 13:114The benefits of cross-disease research
Despite considerable similarity in the genetic underpinning of many different human diseases the frequency of cross-disease study is low, although collaborative studies may accelerate and increase the impact of new genetic discoveries.
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BMC Medical Genetics 2012, 13:95Exome sequencing in asthma
Whole-exome sequencing of a family with multiple asthmatic children identified several potentially functional novel variants specific to the family that may contribute to asthma susceptibility.
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Hot topic
Research article
MLPA-based genotype--phenotype analysis in 1053 Chinese patients with DMD/BMD
BMC Medical Genetics 2013, 14:29
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Scope
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.
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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