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Initiatives & Research
Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients
Akiyoshi Nakayama, Masahiro Nakatochi, Yusuke Kawamura, et al.
Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population
Yoshiaki Yasumizu, Saori Sakaue, Takahiro Konuma, et al.
HLA-B51:01 and CYP2C93 Are Risk Factors for Phenytoin-Induced Eruption in the Japanese Population: Analysis of Data From the Biobank Japan Project
Keiko Hikino, Takeshi Ozeki, Masaru Koido, et al.
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease
Joshua N. Curry, Matthew Saurette, Masomeh Askari, et al.
Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan
Saori Sakaue, Masahiro Kanai, Juha Karjalainen, et al.
Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls
Yukihide Momozawa, Yusuke Iwasaki, Makoto Hirata, et al.
Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction
Saori Sakaue, Jun Hirata, Masahiro Kanai, et al.
Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population
Kenichi Yamamoto, Saori Sakaue, Koichi Matsuda, et al.
GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits
Nana Matoba, Masato Akiyama, Kazuyoshi Ishigaki, et al.
Diabetes and cancer risk: A Mendelian randomization study
Atsushi Goto, Taiki Yamaji, Norie Sawada, et al.
Identification of a novel uterine leiomyoma GWAS locus in a Japanese population
Kensuke Sakai, Chizu Tanikawa, Akira Hirasawa, et al.
GWAS of five gynecologic diseases and cross-trait analysis in Japanese
Tatsuo Masuda, Siew-Kee Low, Masato Akiyama, et al.
Comparative genetic architectures of schizophrenia in East Asian and European populations
Max Lam, Chia-Yen Chen, Zhiqiang Li, et al.
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
Aritoshi Iida, Kyoko Takano, Eri Takeshita, et al.
Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project
Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population
Siew-Kee Low, Yoon Ming Chin, Hidemi Ito, et al.
Genetic predisposition to mosaic Y chromosome loss in blood
Deborah J. Thompson, Giulio Genovese, Jonatan Halvardson, et al.
Polygenic burden in focal and generalized epilepsies
Costin Leu, Remi Stevelink, Alexander W. Smith, et al.
Associations of autozygosity with a broad range of human phenotypes
David W. Clark, Yukinori Okada, Kristjan H. S. Moore, et al.
GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation
Chikashi Terao, Yukihide Momozawa, Kazuyoshi Ishigaki, et al.
Characterizing rare and low-frequency height-associated variants in the Japanese population
Masato Akiyama, Kazuyoshi Ishigaki, Saori Sakaue, et al.
12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population
Ryo Takata, Atsushi Takahashi, Masashi Fujita, et al.
Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling
Tomoki Motegi, Yuta Kochi, Koichi Matsuda, et al.
Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect
Masashi Ikeda, Atsushi Takahashi, Yoichiro Kamatani, et al.
Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles
Frauke Degenhardt, Mareike Wendorff, Michael Wittig, et al.
GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population
Ken Suzuki, Masato Akiyama, Kazuyoshi Ishigaki, et al.
Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population
Jun Hirata, Kazuyoshi Hosomichi, Saori Sakaue, et al.
Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study
Susanna C. Larsson, Matthew Traylor, Stephen Burgess, et al.
Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data
Toshihiro Kishikawa, Yukihide Momozawa, Takeshi Ozeki, et al.
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control
Samuela Pollack, Robert P. Igo, Richard A. Jensen, et al.
Novel Common Genetic Susceptibility Loci for Colorectal Cancer
Stephanie L. Schmit, Christopher K. Edlund, Fredrick R. Schumacher, et al.
Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias
Yoshiyuki Kojima, Tomoyuki Koguchi, Kentaro Mizuno, et al.
Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection
Fumihiko Takeuchi, Iwao Kukimoto, Zhiqiang Li, et al.
Genetically Determined Levels of Circulating Cytokines and Risk of Stroke
Marios K. Georgakis, Dipender Gill, Kristiina Rannikmäe, et al.
Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis
Shuhei Okazaki, Takaaki Morimoto, Yoichiro Kamatani, et al.
Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies
Andrew P. Morris, Thu H. Le, Haojia Wu, et al.
Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion.
Kentaro Ohki, Nobutaka Kiyokawa, Yuya Saito, et al.
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, et al.
A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes
Makiko Taira, Minako Imamura, Atsushi Takahashi, et al.
Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1
Varalee Yodsurang, Yaqi Tang, Yukie Takahashi, et al.
Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity
Saori Sakaue, Jun Hirata, Yuichi Maeda, et al.
Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21
Chizu Tanikawa, Yoichiro Kamatani, Osamu Toyoshima, et al.
Interethnic analyses of blood pressure loci in populations of East Asian and European descent
Fumihiko Takeuchi, Masato Akiyama, Nana Matoba, et al.
Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn’s disease in Asians
Buhm Han, Masato Akiyama, Kyung-Kon Kim, et al.
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci
Anas M. Khanshour, Ikuyo Kou, Yanhui Fan, et al.
Genetics of the thrombomodulin-endothelial cell protein C receptor system and the risk of early-onset ischemic stroke
John W. Cole, Huichun Xu, Kathleen Ryan, et al.
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation
Alexander Teumer, Layal Chaker, Stefan Groeneweg, et al.
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls
Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, et al.
Development of a Highly Sensitive Device for Counting the Number of Disease-Specific Exosomes in Human Sera
Yasuaki Kabe, Makoto Suematsu, Satoshi Sakamoto, et al.
