Associated Papers
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.
Sandholm N et al.
Genome Medicine, 2022
Whole genome sequence analysis of blood lipid levels in >66,000 individuals.
Selvaraj MS et al.
Nature Communications, 2022
Hypertriglyceridemia Induced Acute Pancreatitis Caused by a Novel LIPC Gene Variant in a Pediatric Patient.
Balanescu L et al.
Children (basel, Switzerland), 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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.
Minarik L et al.
Folia Biologica, 2020
Hepatic lipase (LIPC) sequencing in individuals with extremely high and low high-density lipoprotein cholesterol levels.
Pirim D et al.
Plos One, 2020
A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context.
Gallois A et al.
Nature Communications, 2019
31636271 (PubMed )
Supplement: 41467_2019_12703_MOESM1_ESM.pdf
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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
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
29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Dron JS et al.
Journal of Lipid Research, 2017
28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf
Insights into blood lipids from rare variant discovery.
Schmidt EM et al.
Current Opinion in Genetics & Development, 2015
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.
Holmen OL et al.
Nature Genetics, 2014
Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.
Motazacker MM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013
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