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Initiatives & Research
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.
Genetic predisposition to mosaic Y chromosome loss in blood
Deborah J. Thompson, Giulio Genovese, Jonatan Halvardson, et al.
GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture
Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility
Chizu Tanikawa, Koji Ueda, Akari Suzuki, et al.
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure
Yun J. Sung, Thomas W. Winkler, Lisa de Las Fuentes, et al.
GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12
Chizu Tanikawa, Yoichiro Kamatani, Atsushi Takahashi, et al.
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
Masahiro Kanai, Masato Akiyama, Atsushi Takahashi, et al.
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
Florence Demenais, Patricia Margaritte-Jeannin, Kathleen C. Barnes, et al.
Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes
M. Okuno, T. Ayabe, I. Yokota, et al.
Decrease in PSCA expression caused by Helicobacter pylori infection may promote progression to severe gastritis
Osamu Toyoshima, Chizu Tanikawa, Ryuta Yamamoto, 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.
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Mary F. Feitosa, Aldi T. Kraja, Daniel I. Chasman, 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 Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study
Asahi Hishida, Masahiro Nakatochi, Masato Akiyama, et al.
Elucidating the genetic architecture of reproductive ageing in the Japanese population
Momoko Horikoshi, Felix R. Day, Masato Akiyama, et al.
Re-evaluating classical body type theories: genetic correlation between psychiatric disorders and body mass index
Masashi Ikeda, Satoshi Tanaka, Takeo Saito, 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.
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.
