Associated Papers
Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis.
Cacciottolo TM et al.
Diabetes, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genome-wide association study for circulating metabolic traits in 619,372 individuals.
Tambets R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.
Cao X et al.
Nature Communications, 2025
A case of familial partial lipodystrophy type 2 masquerading as Cushing syndrome: Explaining an atypical phenotype by whole-exome sequencing.
Perez-Dionisio E et al.
Archives of Endocrinology and Metabolism, 2025
A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.
Kalwick M et al.
Nutrients, 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.
Wang JJ et al.
Frontiers in Physiology, 2025
PNPLA3-Ile148Met and TM6SF2-Glu167Lys increase susceptibility to metabolic dysfunction-associated steatotic liver disease in children.
Yao H et al.
Frontiers in Endocrinology, 2025
Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.
Walkenhorst M et al.
Frontiers in Medicine, 2025
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ et al.
Nature Genetics, 2024
Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.
Jan A et al.
Pakistan Journal of Medical Sciences, 2024
Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk.
Carreras-Torres R et al.
Genome Medicine, 2024
Fine mapping of candidate effector genes for heart rate.
Ramírez J et al.
Human Genetics, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
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
Elevated plasma triglycerides increase the risk of psoriasis: a cohort and Mendelian randomization study.
Greve AM et al.
The British Journal of Dermatology, 2024
GWAS meta-analysis reveals key risk loci in essential tremor pathogenesis.
Skuladottir AT et al.
Communications Biology, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people.
Koyanagi YN et al.
Science Advances, 2024
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISIMatusda in the middle-aged T2D individuals.
Shen M et al.
Journal of Human Genetics, 2023
Intrahepatic cholestasis of pregnancy and theory of inheritance of the disease. Literature review.
Niemyjska-Dmoch W et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2023
Plasma proteomic associations with genetics and health in the UK Biobank.
Sun BB et al.
Nature, 2023
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.
Choi J et al.
Science Advances, 2023
Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.
Boukhalfa W et al.
Frontiers in Aging Neuroscience, 2023
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM et al.
Wellcome Open Research, 2023
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.
Park J et al.
Cell Reports. Medicine, 2022
A case of NASH with genetic predisposition successfully treated with an SGLT2 inhibitor: a possible involvement of mitochondrial dysfunction.
Nakajima R et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Multiomics study of nonalcoholic fatty liver disease.
Sveinbjornsson G et al.
Nature Genetics, 2022
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH et al.
Nature Communications, 2022
Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis.
Sánchez-Maldonado JM et al.
Cancers, 2022
Metabolic Syndrome but Not Fatty Liver-Associated Genetic Variants Correlates with Glomerular Renal Function Decline in Patients with Non-Alcoholic Fatty Liver Disease.
Baratta F et al.
Biomedicines, 2022
Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits.
Yeh KH et al.
Genes, 2022
PSD3 downregulation confers protection against fatty liver disease.
Mancina RM et al.
Nature Metabolism, 2022
Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes.
Chen G et al.
Plos One, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021