Associated Papers
Uncovering dark mass in population proteomics: Pan-analysis of single amino acid polymorphism relevant to cognition and aging.
Gao X et al.
Cell Genomics, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1
Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.
Park YJ et al.
Lipids in Health and Disease, 2024
39198834 (PubMed )
Supplement: 12944_2024_2248_MOESM1_ESM.xlsx › Table_S1
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S et al.
Cell Discovery, 2023
37479695 (PubMed )
Supplement: 41421_2023_582_MOESM2_ESM.xlsx › Table_S18
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.
Xing D et al.
Bmc Ophthalmology, 2022
35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM4_ESM.xlsx › Sheet1
Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.
Matsunaga A et al.
Journal of Atherosclerosis and Thrombosis, 2020
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.
Shoemaker LD et al.
G3 (bethesda, Md.), 2015
Polymorphisms of genes involved in lipid metabolism and risk of chronic kidney disease in Japanese - cross-sectional data from the J-MICC study.
Hishida A et al.
Lipids in Health and Disease, 2014
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
24650283 (PubMed )
Supplement: pr4011475_si_001.pdf
Gene-gene combination effect and interactions among ABCA1, APOA1, SR-B1, and CETP polymorphisms for serum high-density lipoprotein-cholesterol in the Japanese population.
Nakamura A et al.
Plos One, 2013
Population-based resequencing of APOA1 in 10,330 individuals: spectrum of genetic variation, phenotype, and comparison with extreme phenotype approach.
Haase CL et al.
Plos Genetics, 2012
23209431 (PubMed )
Supplement: pgen.1003063.s004.pdf
Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.
Wakai K et al.
Journal of Epidemiology, 2011
Evaluation of resequencing on number of tag SNPs of 13 atherosclerosis-related genes in Thai population.
Tocharoentanaphol C et al.
Journal of Human Genetics, 2008
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
Pearson ER et al.
Diabetologia, 2005
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