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Initiatives & Research
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
Nana Matoba, Masato Akiyama, Kazuyoshi Ishigaki, et al.
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.
Identification of LEF1 as a Susceptibility Locus for Kawasaki Disease in Patients Younger than 6 Months of Age
Hea-Ji Kim, Sin Weon Yun, Jeong Jin Yu, et al.
Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis
Yuta Kochi, Yoichiro Kamatani, Yuya Kondo, et al.
A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis
Ikuyo Kou, Kota Watanabe, Yohei Takahashi, 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.
Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population
Taisei Mushiroda, Yukitoshi Takahashi, Teiichi Onuma, et al.
Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese
Yukinori Okada, Yukihide Momozawa, Saori Sakaue, et al.
Multi-ethnic genome-wide association study for atrial fibrillation
Carolina Roselli, Mark D. Chaffin, Lu-Chen Weng, 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.
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.
Blood lipid-related low-frequency variants in LDLR and PCSK9 are associated with onset age and risk of myocardial infarction in Japanese
Tomoyuki Tajima, Hiroyuki Morita, Kaoru Ito, et al.
Interethnic analyses of blood pressure loci in populations of East Asian and European descent
Fumihiko Takeuchi, Masato Akiyama, Nana Matoba, 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.
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation
Alexander Teumer, Layal Chaker, Stefan Groeneweg, et al.
A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes
Natalie R. van Zuydam, Emma Ahlqvist, Niina Sandholm, et al.
Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease
Yumi Yamaguchi-Kabata, Takashi Morihara, Tomoyuki Ohara, 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.
Trans-Ethnic Polygenic Analysis Supports Genetic Overlaps of Lumbar Disc Degeneration With Height, Body Mass Index, and Bone Mineral Density
Xueya Zhou, Ching-Lung Cheung, Tatsuki Karasugi, et al.