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
492,524 Downloads
275 Altmetric Mentions
Featured articles
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IL-6 associates with acute chorioamnionitis and pre-term birth
Placental DNA genotyping reveals IL-6 gene variant rs1800796 is associated with the inflammation of placenta and foetal membrane that is often reported in pre-term birth.
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Day-to-day stressors and gene methylation on cardiovascular disease and cognitive impairment
Several genes linked to subclinical cardiovascular disease and cognitive impairment appear to be differentially methylated in subjects experiencing early- and mid-life stress.
Articles
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Increased risk of aspirin-induced gastric mucosal erosion in elderly Chinese men harboring SLCO1B1*1b/*1b while using aspirin and an ACEI or ARB concomitantly
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Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report
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Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders
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Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center
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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, BioMed Central, UK
Assistant Editor
- Arwa Tawfiq, BioMed Central, 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.
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Introducing BMC Nephrology Blogs
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Highlights of the BMC series: October 2019
14 November 2019
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