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Initiatives & Research
SHROOM3, the gene associated with chronic kidney disease, affects the podocyte structure
Ryo Matsuura, Atsuko Hiraishi, Lawrence B. Holzman, et al.
Fine Mapping of the Major Histocompatibility Complex Region and Association of the HLA-B*52:01 Allele With Cervical Cancer in Japanese Women
Tatsuo Masuda, Hidemi Ito, Jun Hirata, et al.
Cause-specific mortality rates in patients with diabetes according to comorbid macro- and microvascular complications: BioBank Japan Cohort
Hiroshi Yokomichi, Akiko Nagai, Makoto Hirata, et al.
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Ming-Huei Chen, Laura M. Raffield, Abdou Mousas, et al.
The Polygenic and Monogenic Basis of Blood Traits and Diseases
Dragana Vuckovic, Erik L. Bao, Parsa Akbari, et al.
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease
Joshua N. Curry, Matthew Saurette, Masomeh Askari, et al.
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 association meta-analysis identifies GP2 gene risk variants for pancreatic cancer
Yingsong Lin, Masahiro Nakatochi, Yasuyuki Hosono, et al.
Endogenization and excision of human herpesvirus 6 in human genomes
Xiaoxi Liu, Shunichi Kosugi, Rie Koide, et al.
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis
Ryoichi Nakamura, Kazuharu Misawa, Genki Tohnai, et al.
Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes
Keijiro Mizukami, Yusuke Iwasaki, Eiryo Kawakami, et al.
Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease
Satoshi Koyama, Kaoru Ito, Chikashi Terao, et al.
Chromosomal alterations among age-related haematopoietic clones in Japan
Chikashi Terao, Akari Suzuki, Yukihide Momozawa, et al.
Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease
Hiroshi Matsunaga, Kaoru Ito, Masato Akiyama, et al.
Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases
Kazuyoshi Ishigaki, Masato Akiyama, Masahiro Kanai, 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.
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.
Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population
Kenichi Yamamoto, Saori Sakaue, Koichi Matsuda, et al.
Identification of type 2 diabetes loci in 433,540 East Asian individuals
Cassandra N. Spracklen, Momoko Horikoshi, Young Jin Kim, et al.
Prevalence and spectrum of pathogenic germline variants in Japanese patients with early-onset colorectal, breast, and prostate cancer
Xiaoxi Liu, Sadaaki Takata, Kyota Ashikawa, et al.
GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits
Nana Matoba, Masato Akiyama, Kazuyoshi Ishigaki, et al.
Identification of a novel uterine leiomyoma GWAS locus in a Japanese population
Kensuke Sakai, Chizu Tanikawa, Akira Hirasawa, 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.
Diabetes and cancer risk: A Mendelian randomization study
Atsushi Goto, Taiki Yamaji, Norie Sawada, et al.
GWAS of five gynecologic diseases and cross-trait analysis in Japanese
Tatsuo Masuda, Siew-Kee Low, Masato Akiyama, et al.
Characterizing rare and low-frequency height-associated variants in the Japanese population
Masato Akiyama, Kazuyoshi Ishigaki, Saori Sakaue, et al.
Associations of autozygosity with a broad range of human phenotypes
David W. Clark, Yukinori Okada, Kristjan H. S. Moore, 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.
Genetically Determined Levels of Circulating Cytokines and Risk of Stroke
Marios K. Georgakis, Dipender Gill, Kristiina Rannikmäe, 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
Keiko Hikino, Takeshi Ozeki, Masaru Koido, et al.
Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population
Jun Hirata, Kazuyoshi Hosomichi, 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.
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.
A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, 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.
Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data
Toshihiro Kishikawa, Yukihide Momozawa, Takeshi Ozeki, et al.
Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias
Yoshiyuki Kojima, Tomoyuki Koguchi, Kentaro Mizuno, et al.
Comparative genetic architectures of schizophrenia in East Asian and European populations
Max Lam, Chia-Yen Chen, Zhiqiang Li, et al.
Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study
Susanna C. Larsson, Matthew Traylor, Stephen Burgess, et al.
Polygenic burden in focal and generalized epilepsies
Costin Leu, Remi Stevelink, Alexander W. Smith, et al.
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.
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.
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.
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.
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.
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.
Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population
Ken Suzuki, Masato Akiyama, Kazuyoshi Ishigaki, 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.
GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation
Chikashi Terao, Yukihide Momozawa, Kazuyoshi Ishigaki, et al.
