Human Molecular Genetics (HUM MOL GENET )
Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics. These include: the molecular basis of human genetic disease developmental genetics neurogenetics chromosome structure and function molecular aspects of cancer genetics gene therapy biochemical genetics major advances in gene mapping understanding of genome organisation In addition the journal also publishes research on other model systems for the analysis of genes especially when there is an obvious relevance to human genetics. Key features of the journal include: Articles - comprehensive reports and definitive research findings of interest to a broad audience of human molecular geneticists. We encourage inclusion of full experimental details with as many display items (figures and tables) as required to tell the complete story. Reports - descriptions of novel results of biological and genetic importance in the field. Commentaries - these discuss recent papers in the journal or review areas of particular interest in the field. Now in its eighth year of publication Human Molecular Genetics has clearly become one of the leading journals in this exciting frontier of scientific research. With the enthusiastic support of the executive editors and editorial board we intend to ensure that the journal's reputation for quality is reinforced in the years to come.
- Impact factor7.69Show impact factor historyHide impact factor history
- 5-year impact7.54
- Cited half-life6.60
- Immediacy index1.55
- Article influence3.08
- WebsiteHuman Molecular Genetics website
- Other titlesHuman molecular genetics
- Material typePeriodical, Internet resource
- Document typeJournal / Magazine / Newspaper, Internet Resource
- Author can archive a pre-print version
- Author cannot archive a post-print version
- 12 month embargo on science, technology, medicine articles
- 24 month embargo on arts and humanities articles
- Some titles may have different embargoes
- Pre-print can only be posted prior to acceptance
- Pre-print must be accompanied by set statement (see link)
- Pre-print must not be replaced with post-print, instead a link to published version with amended set statement should be made
- Pre-print on personal website, employer website, free public server or pre-prints in subject area
- Post-print on Institutional or Central repositories
- Publisher version cannot be used except for Nucleic Acids Research articles
- Published source must be acknowledged
- Must link to publisher version
- Set phrase to accompany archived copy (see policy)
- Articles in some journals can be made Open Access on payment of additional charge
- Eligible UK authors may deposit in OpenDepot
- Publisher will deposit on behalf of NIH funded authors to PubMed Central, Nucleic Acids Research authors must pay their fee first
- Some titles may use different policies
- Classification yellow
Publications in this journal
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ABSTRACT: Genome wide association studies (GWAS) have revealed genetic determinants of iron metabolism, but correlation of these with clinical phenotypes is pending. Homozygosity for HFE C282Y is the predominant genetic risk factor for hereditary hemochromatosis (HH) and may cause liver cirrhosis. However, this genotype has a low penetrance. Thus, detection of yet unknown genetic markers that identify patients at risk of developing severe liver disease is necessary for better prevention.Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2, Chr2p14) in recent GWAS, and liver fibrosis (PNPLA3) in recent meta-analysis were analyzed for association with either liver cirrhosis or advanced fibrosis in 148 German HFE C282Y homozygotes. Replication of associations was sought in additional 499 Austrian/Swiss and 112 HFE C282Y homozygotes from Sweden.Only variant rs236918 in the PCSK7 gene (proprotein convertase subtilisin/kexin type 7) was associated with cirrhosis or advanced fibrosis (p=1.02×10-5) in the German cohort with genotypic odds ratios of 3.56 [95% CI 1.29-9.77] for CG heterozygotes and 5.38 [2.39-12.10] for C allele carriers. Association between rs236918 and cirrhosis was confirmed in Austrian/Swiss HFE C282Y homozygotes (p=0.014; ORallelic=1.82 [1.12-2.95] but not in Swedish patients. Posthoc combined analyses of German/Swiss/Austrian patients with available liver histology (N=244, p=0.00014, ORallelic=2.84) and of males only (N=431, p=2.17×10-5, ORallelic=2.54) were consistent with the premier finding. Association between rs236918 and cirrhosis was not confirmed in alcoholic cirrhotics, suggesting specificity of this genetic risk factor for HH.PCSK7 variant rs236918 is a risk factor for cirrhosis in HH patients homozygous for the HFE C282Y mutation.Human Molecular Genetics 02/2014; 2014 Feb 20. [Epub ahead of print].
- Human Molecular Genetics 10/2013;
- Human Molecular Genetics 04/2013;
- Human Molecular Genetics 01/2013; 22(25):5121-5135.
- Human Molecular Genetics 01/2013; In Press.
- Human Molecular Genetics 12/2012;
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.
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