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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