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Human Genetics
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Top Articles
Human Genetics
Biology
,
Genetics
,
Human Genetics
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
Title
Year
Citations
Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
1988
1.1K
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
2014
975
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
1992
946
A functional polymorphism in the monoamine oxidase A gene promoter
1998
888
The CpG dinucleotide and human genetic disease
1988
837
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
1976
776
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
2017
775
Nomenclature for the description of human sequence variations
2001
766
Candidate gene studies of ADHD: a meta-analytic review
2009
727
Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark
1991
695
The heritability of human longevity: a population-based study of 2872 Danish twin pairs born 1870-1900
1996
618
A routine method for the establishment of permanent growing lymphoblastoid cell lines
1986
565
The frequency of lysosomal storage diseases in The Netherlands
1999
532
An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes
1976
530
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
1990
518
Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes
1988
512
DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes
1984
512
Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat
1993
507
Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization
1993
501
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
1983
475
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
2010
440
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
1985
435
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets
2012
434
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma
1989
415
The hnRNP family: insights into their role in health and disease
2016
409
previous
2001
2002
2003
How are inpact factors calculated?
The impact factor (IF) is calculated by counting citations from peer-reviewed journals only.
extended IF
also counts citations from books and conference papers. However, no patent, abstract, working papers, online documents, etc., are covered.
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