Associated Papers
The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.
Pittman M et al.
Genome Research, 2026
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ et al.
Nature Genetics, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Competing Genetic Traits and Their Influence on LDL Cholesterol Concentration in Familial Hypercholesterolemia.
Song C et al.
Jacc. Case Reports, 2024
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
Hypercholesterolemia risk associated Abca6 does not regulate lipoprotein metabolism in mice or hamster.
He B et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2021
Autophagy and Mitophagy-Related Pathways at the Crossroads of Genetic Pathways Involved in Familial Sarcoidosis and Host-Pathogen Interactions Induced by Coronaviruses.
Pacheco Y et al.
Cells, 2021
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
Bell S et al.
Communications Biology, 2021
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.
Jiang X et al.
Communications Biology, 2020
Genetic risk factors for venous thromboembolism.
Zöller B et al.
Expert Review of Hematology, 2020
Revisiting the Population Genetics of Human Height.
Rotwein P
Journal of the Endocrine Society, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 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
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir A et al.
Nature Genetics, 2016
The impact of low-frequency and rare variants on lipid levels.
Surakka I et al.
Nature Genetics, 2015
Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
van Leeuwen EM et al.
Nature Communications, 2015
SDS, a structural disruption score for assessment of missense variant deleteriousness.
Preeprem T et al.
Frontiers in Genetics, 2014