6.3(top 2%)
Impact Factor
6.8(top 2%)
extended IF
172(top 2%)
H-Index
5.2K
authors
12K
papers
339.8K
citations
9K
citing journals
100.2K
citing authors

Most Cited Articles of Human Genetics

TitleYearCitations
Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries19881.1K
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine2014975
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences1992946
A functional polymorphism in the monoamine oxidase A gene promoter1998888
The CpG dinucleotide and human genetic disease1988837
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm1976776
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies2017775
Nomenclature for the description of human sequence variations2001766
Candidate gene studies of ADHD: a meta-analytic review2009727
Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark1991695
The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870-19001996618
A routine method for the establishment of permanent growing lymphoblastoid cell lines1986565
The frequency of lysosomal storage diseases in The Netherlands1999532
An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes1976530
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction1990518
Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes1988512
DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes1984512
Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat1993507
Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization1993501
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy1983475
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene2010440
Further segregation analysis of the fragile X syndrome with special reference to transmitting males1985435
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets2012434
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma1989415
The hnRNP family: insights into their role in health and disease2016409