Associated Papers
Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach.
Huang HYR et al.
Jhep Reports : Innovation in Hepatology, 2025
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
Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations.
Koyama S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
Complex effects of sequence variants on lipid levels and coronary artery disease.
Snaebjarnarson AS et al.
Cell, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 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
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S12
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
31118516 (PubMed )
Supplement: 41586_2019_1231_MOESM1_ESM.pdf
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A et al.
Nature Genetics, 2018
Hepatic Tm6sf2 overexpression affects cellular ApoB-trafficking, plasma lipid levels, hepatic steatosis and atherosclerosis.
Ehrhardt N et al.
Human Molecular Genetics, 2017
Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.
Patel AP et al.
Atherosclerosis, 2016
The impact of low-frequency and rare variants on lipid levels.
Surakka I et al.
Nature Genetics, 2015
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