Human Genetics Q1 Unclaimed
Human Genetics presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and cytogenomics; genome structure and organization; bioinformatics; gene therapy and gene editing; disease association studies; molecular diagnostics; genetic epidemiology; evolutionary genetics; developmental genetics; genotype-phenotype relationships; pharmacogenetics and -genomics; molecular genetics of tumorigenesis; genetics of complex diseases and epistatic interactions; ethical, legal and social issues.
Human Genetics is a Transformative Journal (TJ). When a paper is accepted for publication, authors can choose to publish using either the traditional publishing route or immediate gold Open Access (Funding available! Please see: https://www.springer.com/journal/439/open-access-publishing)
No publication charges except for special services (open access, paper offprints, e-offprints, posters etc.)
Color art is free of charge for print and online publication
95% of authors who answered a survey reported that they would definitely publish or probably publish in the journal again It has an SJR impact factor of 1,98.
Human Genetics focuses its scope in these topics and keywords: genetic, human, gene, type, genes, mutation, receptor, risk, mapping, mutations, ...
Type: Journal
Type of Copyright:
Languages: English
Open Access Policy: Open Choice
Type of publications:
Publication frecuency: -
3580 €
Inmediate OANPD
Embargoed OA0 €
Non OAMetrics
1,98
SJR Impact factor148
H Index148
Total Docs (Last Year)361
Total Docs (3 years)10125
Total Refs1895
Total Cites (3 years)344
Citable Docs (3 years)5.53
Cites/Doc (2 years)68.41
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Aims and Scope
Best articles by citations
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
A functional polymorphism in the monoamine oxidase A gene promoter
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
Candidate gene studies of ADHD: a meta-analytic review
Nomenclature for the description of human sequence variations
The CpG dinucleotide and human genetic disease
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm
The hnRNP family: insights into their role in health and disease
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets
The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870–1900
The frequency of lysosomal storage diseases in The Netherlands
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
A routine method for the establishment of permanent growing lymphoblastoid cell lines
DNA polymerase ? inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes
Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat
An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
Distribution of ADH2 and ALDH2 genotypes in different populations
Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization
Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes
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