3.1(top 10%)
impact factor
3.2K(top 10%)
papers
77.4K(top 5%)
citations
94(top 5%)
h-index
3.2(top 20%)
impact factor
3.5K
all documents
82.7K
doc citations
136(top 10%)
g-index

Top Articles

#TitleJournalYearCitations
1The HLA genomic loci map: expression, interaction, diversity and diseaseJournal of Human Genetics2009640
2Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarctionJournal of Human Genetics2006597
3A genome-wide association study identifies RNF213 as the first Moyamoya disease geneJournal of Human Genetics2011582
4A high-throughput SNP typing system for genome-wide association studiesJournal of Human Genetics2001421
5The promise of whole-exome sequencing in medical geneticsJournal of Human Genetics2014404
6Histone modifications for human epigenome analysisJournal of Human Genetics2013371
7SARS-CoV-2 genomic variations associated with mortality rate of COVID-19Journal of Human Genetics2020316
8SNP alleles in human disease and evolutionJournal of Human Genetics2002310
9Recent advances in RASopathiesJournal of Human Genetics2016290
10Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190 562 genetic variations in the human genomeJournal of Human Genetics2002281
11Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's diseaseJournal of Human Genetics2002272
12Human genetic variation database, a reference database of genetic variations in the Japanese populationJournal of Human Genetics2016270
13Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)Journal of Human Genetics2002257
14Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomesJournal of Human Genetics2006233
15Variations in the FTO gene are associated with severe obesity in the JapaneseJournal of Human Genetics2008219
16Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral centerJournal of Human Genetics2010214
17Ethnic differences in allele frequency of autoimmune-disease-associated SNPsJournal of Human Genetics2005208
18LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)Journal of Human Genetics2003205
19Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stressesJournal of Human Genetics2004202
20Evolutionary dynamics of olfactory and other chemosensory receptor genes in vertebratesJournal of Human Genetics2006199
21Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn’s disease in Japanese patientsJournal of Human Genetics2007191
22The pursuit of genome-wide association studies: where are we now?Journal of Human Genetics2010191
23A novel susceptibility locus for moyamoya disease on chromosome 8q23Journal of Human Genetics2004187
24Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metforminJournal of Human Genetics2007182
25Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disordersJournal of Human Genetics2012177
26Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese populationJournal of Human Genetics2010173
27The impact of next-generation sequencing technologies on HLA researchJournal of Human Genetics2015173
28Genetics and pathological mechanisms of Usher syndromeJournal of Human Genetics2010161
29Influence of CYP3A5 and drug transporter polymorphisms on imatinib trough concentration and clinical response among patients with chronic phase chronic myeloid leukemiaJournal of Human Genetics2010147
30Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosisJournal of Human Genetics2002145
31A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humansJournal of Human Genetics2006144
32Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean populationJournal of Human Genetics2008141
33The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 geneJournal of Human Genetics2004140
34DNA methylation of the BDNF gene and its relevance to psychiatric disordersJournal of Human Genetics2013140
35SNPs in disease gene mapping, medicinal drug development and evolutionJournal of Human Genetics2007137
36Implications of gene copy-number variation in health and diseasesJournal of Human Genetics2012136
37A genome-wide association study of a coronary artery disease risk variantJournal of Human Genetics2013135
38Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR)Journal of Human Genetics2002134
39Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disordersJournal of Human Genetics2013134
40Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populationsJournal of Human Genetics2008133
41Recent advances in the molecular basis of Lafora’s progressive myoclonus epilepsyJournal of Human Genetics2006130
42Genetics of long-QT syndromeJournal of Human Genetics2016128
43Recent progress in genetics of Marfan syndrome and Marfan-associated disordersJournal of Human Genetics2007127
44FTO polymorphisms in oceanic populationsJournal of Human Genetics2007127
45Genetics of autoimmune diseases: insights from population geneticsJournal of Human Genetics2015127
46LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral densityJournal of Human Genetics2004126
47Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patientsJournal of Human Genetics2006125
48Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphomaJournal of Human Genetics2007125
49MicroRNA in pancreatic cancerJournal of Human Genetics2017125
50Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)Journal of Human Genetics2004124