Human Genetics (HUM GENET)

Publisher: Springer Verlag

Journal description

Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal welcomes articles in the areas of Gene structure and organization Gene expression Mutation detection and analysis Linkage analysis and genetic mapping Physical mapping Cytogenetics and Genomic Imaging Genome structure and organisation Disease association studies Molecular diagnostics Genetic epidemiology Evolutionary genetics Developmental genetics Genotype-phenotype relationships Molecular genetics of tumorigenesis Genetics of complex diseases and epistatic interactions and Bioinformatics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless they report entirely novel and unusual aspects of a topic clinical case reports cytogenetic case reports papers on descriptive population genetics articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described will normally not be accepted. The Journal will not normally consider for publication manuscripts that report merely the isolation map position structure and tissue expression profile of a gene of unknown function unless the gene is of unusual interest or is a candidate gene involved in a human trait or disorder. Data on novel pathological mutations may be submitted to Human Genetics Online the electronic mutation data submission system administered by Springer-Verlag (

Current impact factor: 4.52

Impact Factor Rankings

2015 Impact Factor Available summer 2015
2013 / 2014 Impact Factor 4.522
2012 Impact Factor 4.633
2011 Impact Factor 5.069
2010 Impact Factor 5.047
2009 Impact Factor 4.523
2008 Impact Factor 4.042
2007 Impact Factor 3.974
2006 Impact Factor 3.662
2005 Impact Factor 4.331
2004 Impact Factor 4.328
2003 Impact Factor 4.022
2002 Impact Factor 3.429
2001 Impact Factor 3.209
2000 Impact Factor 3.422
1999 Impact Factor 3.145
1998 Impact Factor 2.826
1997 Impact Factor 2.662
1996 Impact Factor 2.455
1995 Impact Factor 2.551
1994 Impact Factor 2.758
1993 Impact Factor 2.666
1992 Impact Factor 2.877

Impact factor over time

Impact factor

Additional details

5-year impact 4.49
Cited half-life 9.20
Immediacy index 1.27
Eigenfactor 0.02
Article influence 1.81
Website Human Genetics website
Other titles Human genetics (Online), Hum genet
ISSN 0340-6717
OCLC 41232248
Material type Document, Periodical, Internet resource
Document type Internet Resource, Computer File, Journal / Magazine / Newspaper

Publisher details

Springer Verlag

  • Pre-print
    • Author can archive a pre-print version
  • Post-print
    • Author can archive a post-print version
  • Conditions
    • Author's pre-print on pre-print servers such as
    • Author's post-print on author's personal website immediately
    • Author's post-print on any open access repository after 12 months after publication
    • Publisher's version/PDF cannot be used
    • Published source must be acknowledged
    • Must link to publisher version
    • Set phrase to accompany link to published version (see policy)
    • Articles in some journals can be made Open Access on payment of additional charge
  • Classification
    ​ green

Publications in this journal

  • Human Genetics 08/2015; 134(8). DOI:10.1007/s00439-015-1569-y
  • Human Genetics 07/2015; 134(7). DOI:10.1007/s00439-015-1557-2
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    ABSTRACT: Replication of the mitochondrial genome depends on the single DNA polymerase (pol gamma). Mutations in the POLG gene, encoding the catalytic subunit of the human polymerase gamma, have been linked to a wide variety of mitochondrial disorders that show remarkable heterogeneity, with more than 200 sequence variants, often very rare, found in patients. The pathogenicity and dominance status of many such mutations remain, however, unclear. Remarkable structural and functional conservation of human POLG and its S. cerevisiae ortholog (Mip1p) led to the development of many successful yeast models, enabling to study the phenotype of putative pathogenic mutations. In a group of patients with suspicion of mitochondrial pathology, we identified five novel POLG sequence variants, four of which (p.Arg869Ter, p.Gln968Glu, p.Thr1053Argfs*6, and p.Val1106Ala), together with one previously known but uncharacterised variant (p.Arg309Cys), were amenable to modelling in yeast. Familial analysis indicated causal relationship of these variants with disease, consistent with autosomal recessive inheritance. To investigate the effect of these sequence changes on mtDNA replication, we obtained the corresponding yeast mip1 alleles (Arg265Cys, Arg672Ter, Arg770Glu, Thr809Ter, and Val863Ala, respectively) and tested their effect on mitochondrial genome stability and replication fidelity. For three of them (Arg265Cys, Arg672Ter, and Thr809Ter), we observed a strong, partially dominant phenotype of a complete loss of functional mtDNA, whereas the remaining two led to partial mtDNA depletion and significant increase in point mutation frequencies. These results show good correlation with the severity of symptoms observed in patients and allow to establish these variants as pathogenic mutations.
    Human Genetics 06/2015; DOI:10.1007/s00439-015-1578-x
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    ABSTRACT: This excellent book provides a great introduction for genetic counsellors embarking on research for the first time, and is a very suitable textbook for MSc. in Genetic Counselling students conducting MSc. dissertation projects. I found this book to have a very practical orientation, with lots of useful tips for novice researchers, and have already recommended it to my genetic counselling students. The authors supply great worksheets and checklists to help novices who may be, for example, conducting a literature review for the first time. They also provide urls for useful web-based resources.The first few chapters cover the early stages in any research project including developing research questions, finding sources of literature, with plenty of practical tips about how to keep track of your work. Very useful guidance on critical appraisal is provided, with easy-to-use worksheets on what data to “extract” from reviewed research papers.The chapter on “Ethics in Research” focuses on the U ...
    Human Genetics 06/2015; 134(6). DOI:10.1007/s00439-015-1538-5
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    ABSTRACT: Sequences encoding DUF1220 protein domains exhibit an exceptional human-specific increase in copy number and have been associated with several phenotypes related to brain size. Autism is a highly heritable and heterogeneous condition characterized behaviorally by social and communicative impairments, and increased repetitive and stereotyped behavior. Given the accelerated brain growth pattern observed in many individuals with autism, and the association between DUF1220 subtype CON1 copy number and brain size, we previously investigated associations between CON1 copy number and autism-related symptoms. We determined that CON1 copy number increase is associated with increasing severity of all three behavioral features of autism. The present study sought to replicate these findings in an independent population (N = 166). Our results demonstrate a replication of the linear relationship between CON1 copy number and the severity of social impairment in individuals with autism as measured by Autism Diagnostic Interview-Revised Social Diagnostic Score, such that with each additional copy of CON1 Social Diagnostic Score increased 0.24 points (SE = 0.11, p = 0.036). We also identified an analogous trend between CON1 copy number and Communicative Diagnostic Score, but did not replicate the relationship between CON1 copy number and Repetitive Behavior Diagnostic Score. Interestingly, these associations appear to be most pronounced in multiplex children. These results, representing the first replication of a gene dosage relationship with the severity of a primary symptom of autism, lend further support to the possibility that the same protein domain family implicated in the evolutionary expansion of the human brain may also be involved in autism severity.
    Human Genetics 03/2015; 134(6). DOI:10.1007/s00439-015-1537-6
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    ABSTRACT: Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. However, there are a number of patients with the clinical diagnosis of CSS or NCBRS in whom the causative mutation has not been identified. In this study, we performed trio-based whole-exome sequencing (WES) in ten previously described but unsolved individuals with the tentative diagnosis of CSS or NCBRS and found causative mutations in nine out of ten individuals. Interestingly, our WES analysis disclosed overlapping differential diagnoses including Wiedemann-Steiner, Kabuki, and Adams-Oliver syndromes. In addition, most likely causative de novo mutations were identified in GRIN2A and SHANK3. Moreover, trio-based WES detected SMARCA2 and SMARCA4 deletions, which had not been annotated in a previous Haloplex target enrichment and next-generation sequencing of known CSS/NCBRS genes emphasizing the advantages of WES as a diagnostic tool. In summary, we discuss the phenotypic and diagnostic challenges in clinical genetics, establish important differential diagnoses, and emphasize the cardinal features and the broad clinical spectrum of BAF complex disorders and other disorders caused by mutations in epigenetic landscapers.
    Human Genetics 02/2015; 134(6). DOI:10.1007/s00439-015-1535-8
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    ABSTRACT: L-Selectin is constitutively expressed on leukocytes and mediates their interaction with endothelial cells during inflammation. Previous studies on the association of soluble L-selectin (sL-selectin) with cardiovascular disease (CVD) are inconsistent. Genetic variants associated with sL-selectin levels may be a better surrogate of levels over a lifetime. We explored the association of genetic variants and sL-selectin levels in a race/ethnicity stratified random sample of 2,403 participants in the Multi-Ethnic Study of Atherosclerosis (MESA). Through a genome-wide analysis with additive linear regression models, we found that rs12938 on the SELL gene accounted for a significant portion of the protein level variance across all four races/ethnicities. To evaluate potential additional associations, elastic net models were used for variants located in the SELL/SELP/SELE genetic region and an additional two SNPs, rs3917768 and rs4987361, were associated with sL-selectin levels in African Americans. These variants accounted for a portion of protein variance that ranged from 4 % in Hispanic to 14 % in African Americans. To investigate the relationship of these variants with CVD, 6,317 subjects were used. No significant association was found between any of the identified SNPs and carotid intima-media thickness or presence of carotid plaque using linear and logistic regression, respectively. Similarly no significant results were found for coronary artery calcium or coronary heart disease events. In conclusion, we found that variants within the SELL gene are associated with sL-selectin levels. Despite accounting for a significant portion of the protein level variance, none of the variants was associated with clinical or subclinical CVD.
    Human Genetics 01/2015; 134(4). DOI:10.1007/s00439-014-1527-0
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    ABSTRACT: We previously carried out a multi-stage genome-wide association study (GWAS) on lung cancer among never smokers in the Female Lung Cancer Consortium in Asia (FLCCA) (6,609 cases, 7,457 controls) that identified novel susceptibility loci at 10q25.2, 6q22.2, and 6p21.32, and confirmed two previously identified loci at 5p15.33 and 3q28. Household air pollution (HAP) attributed to solid fuel burning for heating and cooking, is the leading cause of the overall disease burden in Southeast Asia, and is known to contain lung carcinogens. To evaluate the gene-HAP interactions associated with lung cancer in loci independent of smoking, we analyzed data from studies participating in FLCCA with fuel use information available (n = 3; 1,731 cases; 1,349 controls). Coal use was associated with a 30 % increased risk of lung cancer (OR 1.3, 95 % CI 1.0-1.6). Among the five a priori SNPs identified by our GWAS, two showed a significant interaction with coal use (HLA Class II rs2395185, p = 0.02; TP63 rs4488809 (rs4600802), p = 0.04). The risk of lung cancer associated with coal exposure varied with the respective alleles for these two SNPs. Our observations provide evidence that genetic variation in HLA Class II and TP63 may modify the association between HAP and lung cancer risk. The roles played in the cell cycle and inflammation pathways by the proteins encoded by these two genes provide biological plausibility for these interactions; however, additional replication studies are needed in other non-smoking populations.
    Human Genetics 01/2015; 134(3). DOI:10.1007/s00439-014-1528-z
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    ABSTRACT: To the editor,Heo et al. (2014) recently reported male-specific associations between hypertension and 6 SNPs [rs2093395 (TREML2), rs17249754 (ATP2B1), rs12229654 (MYL2), rs3782889 (MYL2), rs11066280 (C12orf51), rs2072134 (OAS3)] in two Korean cohorts with a total of 3,551 cases and 4,725 controls who were genotyped using the Affymetrix Genome-Wide Human SNP Array 6.0. Five of the six reported SNPs were claimed to show a male-specific association with hypertension. We question the validity of the findings.The main results of Heo et al. displayed in Table 2 of the article are weakened by two methodological aspects. First, the KARE data consist of two cohorts, one from rural Ansung and one from urban Ansan. In the non-genetic analysis, the variable indicating region is significantly associated with hypertension (p = 2.1 × 10−22) with an effect size of OR = 1.86 (1.64, 2.11) (main article, Table 1). However, this variable is not included in this analysis (‘‘… data were adjusted for age, se ...
    Human Genetics 01/2015; 134(3). DOI:10.1007/s00439-014-1523-4