Associated Papers
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.
Suzuki T et al.
Endocrine Journal, 2024
Decreased TAX1BP1 participates in systemic lupus erythematosus by regulating monocyte/macrophage function.
Qian T et al.
International Immunology, 2023
Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual.
Paz-Cruz E et al.
Cardiology Research, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.
Shi M et al.
Stroke and Vascular Neurology, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits.
Yeh KH et al.
Genes, 2022
Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose.
Cadena-Ullauri S et al.
Frontiers in Cardiovascular Medicine, 2022
Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.
Matsunaga A et al.
Journal of Atherosclerosis and Thrombosis, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.
Jin JL et al.
Ebiomedicine, 2018
Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR.
Shetty S et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
Rees MG et al.
The Journal of Clinical Investigation, 2012