BMC Medical Genetics

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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The 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.

BMC Medical Genetics 2012, 13:114
Exome 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.

BMC Medical Genetics 2012, 13:95
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Comments

Clarification needed

Comment on: Al-Attas et al. BMC Medical Genetics 2013, 13:38
Mistake detected in our article

Comment on: Piedra et al. BMC Medical Genetics 2013, 12:168
Note while in press

Comment on: Davidson et al. BMC Medical Genetics 2012, 13:19

Hot topic

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

Marzuillo P, Grandone A, Coppola R, Cozzolino D, Festa A, Messa F, Luongo C, Miraglia del Giudice E et al.

BMC Medical Genetics 2013, 14:28

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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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