Associated Papers
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C et al.
Journal of Lipid Research, 2022
35065092 (PubMed )
Supplement: mmc1.pdf
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
33816482 (PubMed )
Supplement: Data_Sheet_1.XLSX › Supplementary_Data_1
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
31813827 (PubMed )
Supplement: mmc2.xlsx › SNVs
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
Wong KHY et al.
Molecular Genetics & Genomic Medicine, 2019
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
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Lonjou C et al.
Bmc Cancer, 2017
28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.
Helgadottir A et al.
Nature Genetics, 2016
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Sadananda SN et al.
Journal of Lipid Research, 2015
Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels.
Naseri M et al.
Molecular Medicine Reports, 2014
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54,500 individuals.
Haase CL et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
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