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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Research article

Systematic identification of DNA variants associated with ultraviolet radiation using a novel Geographic-Wide Association Study (GeoWAS)

Hsu I, Chen R, Ramesh A, Corona E, Kang HP, Ruau D and Butte AJ BMC Medical Genetics 2013, 14:62 (20 June 2013)
Research article

BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families

Berzina D, Nakazawa-Miklasevica M, Zestkova J, Aksenoka K, Irmejs A, Gardovskis A, Kalniete D, Gardovskis J et al. BMC Medical Genetics 2013, 14:61 (14 June 2013)
Research article

Genetic interaction of GSH metabolic pathway genes in cystic fibrosis

Marson FAL, Bertuzzo CS, Secolin R, Ribeiro AF and Ribeiro JD BMC Medical Genetics 2013, 14:60 (10 June 2013)
Case report

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report

Martoni E, Petrini S, Trabanelli C, Sabatelli P, Urciuolo A, Selvatici R, D'Amico A, Falzarano S et al. BMC Medical Genetics 2013, 14:59 (5 June 2013)
Technical advance

High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome

Borun P, Bartkowiak A, Banasiewicz T, Nedoszytko B, Nowakowska D, Teisseyre M, Limon J, Lubinski J et al. BMC Medical Genetics 2013, 14:58 (30 May 2013)
Research article

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age

Yin A, Liu C, Zhang Y, Wu J, Mai M, Ding H, Yang J and Zhang X BMC Medical Genetics 2013, 14:57 (29 May 2013)
Research article

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Ganaha A, Kaname T, Yanagi K, Naritomi K, Tono T, Usami S and Suzuki M BMC Medical Genetics 2013, 14:56 (24 May 2013)
Research article

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies

Saj M, Bilinska ZT, Tarnowska A, Sioma A, Bolongo P, Sobieszczanska-Malek M, Michalak E, Golen D et al. BMC Medical Genetics 2013, 14:55 (23 May 2013)
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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

BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families

Berzina D, Nakazawa-Miklasevica M, Zestkova J, Aksenoka K, Irmejs A, Gardovskis A, Kalniete D, Gardovskis J et al.

BMC Medical Genetics 2013, 14:61

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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.

Join the Editorial Board!

Are you interested in becoming an Editorial Board member for BMC Medical Genetics and helping to maintain the editorial standards and ethos of this growing journal? To volunteer as an Associate Editor, please simply contact us at bmcmedgenet@biomedcentral.com, enclosing a summary of your research interests and relevant expertise. We look forward to hearing from you.

Editor's profile

GiovanniNeri

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.

BMC series blog

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ISSN: 1471-2350