# | Title | Journal | Year | Citations |
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1 | The HLA genomic loci map: expression, interaction, diversity and disease | Journal of Human Genetics | 2009 | 640 |
2 | Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction | Journal of Human Genetics | 2006 | 597 |
3 | A genome-wide association study identifies RNF213 as the first Moyamoya disease gene | Journal of Human Genetics | 2011 | 582 |
4 | A high-throughput SNP typing system for genome-wide association studies | Journal of Human Genetics | 2001 | 421 |
5 | The promise of whole-exome sequencing in medical genetics | Journal of Human Genetics | 2014 | 404 |
6 | Histone modifications for human epigenome analysis | Journal of Human Genetics | 2013 | 371 |
7 | SARS-CoV-2 genomic variations associated with mortality rate of COVID-19 | Journal of Human Genetics | 2020 | 316 |
8 | SNP alleles in human disease and evolution | Journal of Human Genetics | 2002 | 310 |
9 | Recent advances in RASopathies | Journal of Human Genetics | 2016 | 290 |
10 | Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190 562 genetic variations in the human genome | Journal of Human Genetics | 2002 | 281 |
11 | Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease | Journal of Human Genetics | 2002 | 272 |
12 | Human genetic variation database, a reference database of genetic variations in the Japanese population | Journal of Human Genetics | 2016 | 270 |
13 | Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) | Journal of Human Genetics | 2002 | 257 |
14 | Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes | Journal of Human Genetics | 2006 | 233 |
15 | Variations in the FTO gene are associated with severe obesity in the Japanese | Journal of Human Genetics | 2008 | 219 |
16 | Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center | Journal of Human Genetics | 2010 | 214 |
17 | Ethnic differences in allele frequency of autoimmune-disease-associated SNPs | Journal of Human Genetics | 2005 | 208 |
18 | LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090) | Journal of Human Genetics | 2003 | 205 |
19 | Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses | Journal of Human Genetics | 2004 | 202 |
20 | Evolutionary dynamics of olfactory and other chemosensory receptor genes in vertebrates | Journal of Human Genetics | 2006 | 199 |
21 | Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn’s disease in Japanese patients | Journal of Human Genetics | 2007 | 191 |
22 | The pursuit of genome-wide association studies: where are we now? | Journal of Human Genetics | 2010 | 191 |
23 | A novel susceptibility locus for moyamoya disease on chromosome 8q23 | Journal of Human Genetics | 2004 | 187 |
24 | Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin | Journal of Human Genetics | 2007 | 182 |
25 | Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders | Journal of Human Genetics | 2012 | 177 |
26 | Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population | Journal of Human Genetics | 2010 | 173 |
27 | The impact of next-generation sequencing technologies on HLA research | Journal of Human Genetics | 2015 | 173 |
28 | Genetics and pathological mechanisms of Usher syndrome | Journal of Human Genetics | 2010 | 161 |
29 | Influence of CYP3A5 and drug transporter polymorphisms on imatinib trough concentration and clinical response among patients with chronic phase chronic myeloid leukemia | Journal of Human Genetics | 2010 | 147 |
30 | Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis | Journal of Human Genetics | 2002 | 145 |
31 | A silent polymorphism in the PER1 gene associates with extreme diurnal preference in humans | Journal of Human Genetics | 2006 | 144 |
32 | Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population | Journal of Human Genetics | 2008 | 141 |
33 | The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene | Journal of Human Genetics | 2004 | 140 |
34 | DNA methylation of the BDNF gene and its relevance to psychiatric disorders | Journal of Human Genetics | 2013 | 140 |
35 | SNPs in disease gene mapping, medicinal drug development and evolution | Journal of Human Genetics | 2007 | 137 |
36 | Implications of gene copy-number variation in health and diseases | Journal of Human Genetics | 2012 | 136 |
37 | A genome-wide association study of a coronary artery disease risk variant | Journal of Human Genetics | 2013 | 135 |
38 | Identification of 779 genetic variations in eight genes encoding members of the ATP-binding cassette, subfamily C (ABCC/MRP/CFTR) | Journal of Human Genetics | 2002 | 134 |
39 | Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders | Journal of Human Genetics | 2013 | 134 |
40 | Replication of the association between a chromosome 9p21 polymorphism and coronary artery disease in Japanese and Korean populations | Journal of Human Genetics | 2008 | 133 |
41 | Recent advances in the molecular basis of Lafora’s progressive myoclonus epilepsy | Journal of Human Genetics | 2006 | 130 |
42 | Genetics of long-QT syndrome | Journal of Human Genetics | 2016 | 128 |
43 | Recent progress in genetics of Marfan syndrome and Marfan-associated disorders | Journal of Human Genetics | 2007 | 127 |
44 | FTO polymorphisms in oceanic populations | Journal of Human Genetics | 2007 | 127 |
45 | Genetics of autoimmune diseases: insights from population genetics | Journal of Human Genetics | 2015 | 127 |
46 | LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density | Journal of Human Genetics | 2004 | 126 |
47 | Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients | Journal of Human Genetics | 2006 | 125 |
48 | Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma | Journal of Human Genetics | 2007 | 125 |
49 | MicroRNA in pancreatic cancer | Journal of Human Genetics | 2017 | 125 |
50 | Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH) | Journal of Human Genetics | 2004 | 124 |