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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.
Articles
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Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability
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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
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Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review
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Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report
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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
Manuscript Editor
- Dylan Smith, 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
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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
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Combatting a sweet tooth: the role of health marketing
31 March 2020
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2018 Journal Metrics
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Citation Impact
1.740 - 2-year Impact Factor
2.051 - 5-year Impact Factor
0.685 - Source Normalized Impact per Paper (SNIP)
0.808 - SCImago Journal Rank (SJR)
Usage
630,519 Downloads
274 Altmetric Mentions
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