Characterizing rare and low-frequency height-associated variants in the Japanese population

Associations of autozygosity with a broad range of human phenotypes

Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles

Genetically Determined Levels of Circulating Cytokines and Risk of Stroke

Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population

12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population

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

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect

Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data.

Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk Factors for Hypospadias

Comparative genetic architectures of schizophrenia in East Asian and European populations

Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study

Polygenic burden in focal and generalized epilepsies

Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling

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

Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population

Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection

GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

Genetic predisposition to mosaic Y chromosome loss in blood

GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture