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
Announcement
BMC Medical Genetics is closing and is no longer accepting new submissions. As we believe a single journal will provide a broad-scope, community journal for open access for all medical genetics and genomics, we would like to encourage you to submit your manuscript to BMC Medical Genomics.
Manuscripts that are already within the system can be published, following peer review, in BMC Medical Genetics. The journal will then be archived and all articles published will continue to be available.
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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Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
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DGAT1 mutations leading to delayed chronic diarrhoea: a case report
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Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation
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Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype
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Genetic studies of the Roma (Gypsies): a review
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Theories of schizophrenia: a genetic-inflammatory-vascular synthesis
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Genetic variants associated with breast size also influence breast cancer risk
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
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An Open Access Database of Genome-wide Association Results
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
- Clare Mc Fadden, BMC, UK
Assistant Editor
- Arwa Tawfiq, BMC, UK
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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BMC Series Highlights Blog – December
18 January 2021
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Highlights from the BMC Series – November
04 January 2021
2019 Journal Metrics
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Announcement
As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.
