4.3(top 3%)
Impact Factor
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extended IF
86(top 4%)
H-Index
2.6K
authors
3.1K
papers
66K
citations
5.3K
citing journals
50.4K
citing authors

Most Cited Articles of Journal of Human Genetics

TitleYearCitations
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction2006491
The HLA genomic loci map: expression, interaction, diversity and disease2009441
A genome-wide association study identifies RNF213 as the first Moyamoya disease gene2011434
A high-throughput SNP typing system for genome-wide association studies2001405
The promise of whole-exome sequencing in medical genetics2014310
Histone modifications for human epigenome analysis2013253
Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism2002253
Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease2002240
SNP alleles in human disease and evolution2002240
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)2002218
Recent advances in RASopathies2016217
Human genetic variation database, a reference database of genetic variations in the Japanese population2016212
Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes2006206
SARS-CoV-2 genomic variations associated with mortality rate of COVID-192020204
Variations in the FTO gene are associated with severe obesity in the Japanese2008196
Ethnic differences in allele frequency of autoimmune-disease-associated SNPs2005188
Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses2004186
Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients2007176
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)2003175
The pursuit of genome-wide association studies: where are we now?2010172
A novel susceptibility locus for moyamoya disease on chromosome 8q232004172
Evolutionary dynamics of olfactory and other chemosensory receptor genes in vertebrates2006170
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center2010160
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders2012155
Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin2007153