Associated Papers
Germline mutations and somatic mosaicism in steatotic liver diseases and related liver carcinogenesis.
Trépo E et al.
Nature Reviews. Gastroenterology & Hepatology, 2026
Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.
Vujkovic M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exome-wide association analysis identifies novel risk loci for alcohol-associated hepatitis.
Yuan Q et al.
Hepatology (baltimore, Md.), 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
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.
Kohlmaier B et al.
International Journal of Obesity (2005), 2024
Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.
Sookoian S et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
The contribution of genetics and epigenetics to MAFLD susceptibility.
Moretti V et al.
Hepatology International, 2024
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Biochemical and functional characterization of the p.A165T missense variant of mitochondrial amidoxime-reducing component 1.
Hou W et al.
The Journal of Biological Chemistry, 2024
mARC1 in MASLD: Modulation of lipid accumulation in human hepatocytes and adipocytes.
Jones AK et al.
Hepatology Communications, 2024
Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.
Ghouse J et al.
Nature Genetics, 2024
Genetic risk of fatty liver disease and mortality in the general population: A Mendelian randomization study.
Gellert-Kristensen H et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2023
Hepatocyte mARC1 promotes fatty liver disease.
Lewis LC et al.
Jhep Reports : Innovation in Hepatology, 2023
Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.
Park J et al.
Cell Reports. Medicine, 2022
Multiomics study of nonalcoholic fatty liver disease.
Sveinbjornsson G et al.
Nature Genetics, 2022
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.
Vujkovic M et al.
Nature Genetics, 2022
Machine learning enables new insights into genetic contributions to liver fat accumulation.
Haas ME et al.
Cell Genomics, 2021
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.
Schmitt M et al.
Cancers, 2021
Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.
Gao C et al.
Genetic Epidemiology, 2021
Insights into genetic variants associated with NASH-fibrosis from metabolite profiling.
Mann JP et al.
Human Molecular Genetics, 2020
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Functional characterization of protein variants encoded by nonsynonymous single nucleotide polymorphisms in MARC1 and MARC2 in healthy Caucasians.
Ott G et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2014