Human Genetics
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; genom...
17 of 90 journals in Genetics (clinical)
Metrics
Scimago and CountryOfPapers database fields
COP Index
4,1
Q1
SJR Impact
1,597
H-index
155
Docs (year)
110
Docs 3y
394
Total refs
6667
Cites 3y
1633
Citable 3y
379
Cites/Doc 2y
3.88
Ref/Doc
60.61
Immediate OA
3580 €
Embargoed OA
NPD
Non OA / Submission
0 €
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Researcher reviews
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
Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat
DNA polymerase ? inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes
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