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Announcement
Featured articles
Image by PIRO4D from Pixabay
Uncovering the genetics of Parkinson's Disease in Sub-Saharan African populations
Tageted next generation sequencing showed Black South African and Nigerian patients feature specific variants in candidate genes linked to Parkinson's Disease.
BMC Series Focus Issue
July: Inflammation
To celebrate World Allergy Week 2020, the BMC Series is proud to present July’s focus issue dedicated to inflammation. Browse our biology, chemistry and medical titles for insight into recent research in the field, including allergy, autoimmune and inflammatory conditions.
Articles
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A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
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Role of TSP-1 as prognostic marker in various cancers: a systematic review and meta-analysis
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A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report
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First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
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Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
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Allele-specific polymerase chain reaction for the detection of Alzheimer’s disease-related single nucleotide polymorphisms
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Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
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Leptin and adiponectin DNA methylation levels in adipose tissues and blood cells are associated with BMI, waist girth and LDL-cholesterol levels in severely obese men and women
Aims and scope
BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
Editor
- Matteo Pasini, BMC, UK
Assistant Editor
- Arwa Tawfiq, BMC, UK
Section Editors
- Dan Rujescu, Universitätsklinikum Halle, Germany
- Danish Saleheen, University of Pennsylvania, USA
Join our Editorial Board
Pixabay
We are recruiting new Editorial Board members
We are now recruiting Associate Editors for our Editorial Board to join our team of academic editors in assessing manuscripts in the field of medical genetics.
Resources for authors
Standards of reporting
BMC Medical Genetics advocates complete and transparent reporting of research. The BMC minimum standards of reporting checklist is intended as a tool for authors to transparently describe their research and ensure reproducibility. We encourage our authors to adhere to these standards when preparing their manuscript.
Research Data Support for authors
Research Data Support is an optional Springer Nature service available to researchers who have datasets they want to make easier to cite, share and find. Learn more about this service and the many benefits of making your data publicly available.
BMC Series Blog
2018 Journal Metrics
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Citation Impact
1.585 - 2-year Impact Factor
1.797 - 5-year Impact Factor
0.694 - Source Normalized Impact per Paper (SNIP)
0.745 - SCImago Journal Rank (SJR)
Usage
630,519 Downloads
274 Altmetric Mentions
