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exaly
›
Journals
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Human Genetics
›
top-articles
Human Genetics
5.1
(top 5%)
impact factor
12.2K
(top 2%)
papers
390.4K
(top 1%)
citations
188
(top 2%)
h
-index
5.3
(top 5%)
impact factor
13.4K
all documents
405.2K
doc citations
275
(top 2%)
g
-index
Top Articles
#
Title
Journal
Year
Citations
1
Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries
Human Genetics
1988
1,185
2
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
Human Genetics
1992
1,182
3
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Human Genetics
2014
1,153
4
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Human Genetics
2017
1,106
5
A functional polymorphism in the monoamine oxidase A gene promoter
Human Genetics
1998
984
6
The CpG dinucleotide and human genetic disease
Human Genetics
1988
932
7
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm
Human Genetics
1976
925
8
Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark
Human Genetics
1991
895
9
Candidate gene studies of ADHD: a meta-analytic review
Human Genetics
2009
871
10
Nomenclature for the description of human sequence variations
Human Genetics
2001
843
11
The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870–1900
Human Genetics
1996
763
12
The hnRNP family: insights into their role in health and disease
Human Genetics
2016
720
13
Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets
Human Genetics
2012
658
14
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
Human Genetics
1990
618
15
The frequency of lysosomal storage diseases in The Netherlands
Human Genetics
1999
615
16
A routine method for the establishment of permanent growing lymphoblastoid cell lines
Human Genetics
1986
612
17
Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat
Human Genetics
1993
603
18
An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes
Human Genetics
1976
568
19
DNA polymerase ? inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes
Human Genetics
1984
562
20
Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes
Human Genetics
1988
558
21
Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization
Human Genetics
1993
544
22
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
Human Genetics
2010
539
23
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Human Genetics
2013
528
24
Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
Human Genetics
1983
499
25
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
Human Genetics
1985
496
26
Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma
Human Genetics
1989
488
27
Distribution of ADH2 and ALDH2 genotypes in different populations
Human Genetics
1992
479
28
Skin pigmentation, biogeographical ancestry and admixture mapping
Human Genetics
2003
458
29
Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy
Human Genetics
1985
445
30
Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment
Human Genetics
1991
438
31
The HUGO Gene Nomenclature Committee (HGNC)
Human Genetics
2001
434
32
The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus
Human Genetics
1996
429
33
Genomewide association study for susceptibility genes contributing to familial Parkinson disease
Human Genetics
2009
410
34
Genetic influence on human lifespan and longevity
Human Genetics
2006
405
35
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients
Human Genetics
1997
393
36
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects
Human Genetics
1997
393
37
Genetic prion disease: the EUROCJD experience
Human Genetics
2005
391
38
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
Human Genetics
1986
389
39
Genetic homology and crossing over in the X and Y chromosomes of mammals
Human Genetics
1982
388
40
Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention
Human Genetics
1984
377
41
Biomarkers in nutritional epidemiology: applications, needs and new horizons
Human Genetics
2009
377
42
The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
Human Genetics
1983
376
43
The electroencephalogram (EEG) as a research tool in human behavior genetics: Psychological examinations in healthy males with various inherited EEG variants
Human Genetics
1979
374
44
Genome-wide association studies in ADHD
Human Genetics
2009
374
45
Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
Human Genetics
2007
373
46
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Human Genetics
2016
373
47
A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese
Human Genetics
1998
371
48
Lactose digestion and the evolutionary genetics of lactase persistence
Human Genetics
2009
367
49
A deletion in chromosome 22 can cause digeorge syndrome
Human Genetics
1981
363
50
The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions
Human Genetics
1990
358
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