Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis

De novo human genome assemblies reveal spectrum of alternative haplotypes in diverse populations

(2018) Karen H. Y. Wong et al.   Nature Communications

Direct determination of diploid genome sequences

(2017) Neil I. Weisenfeld et al.   GENOME RESEARCH

A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity

(2016) Mahdi M. Motazacker et al.   ATHEROSCLEROSIS

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

(2016) Marianne Benn et al.   EUROPEAN HEART JOURNAL

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Recent developments in genome and exome-wide analyses of plasma lipids

(2015) Leslie A. Lange et al.   CURRENT OPINION IN LIPIDOLOGY

Targeted next-generation sequencing in monogenic dyslipidemias

(2015) Robert A. Hegele et al.   CURRENT OPINION IN LIPIDOLOGY

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency

(2015) Clive R. Pullinger et al.   Journal of Clinical Lipidology

Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL-C levels

(2014) MOHSEN NASERI et al.   Molecular Medicine Reports

Evidence of a Polygenic Origin of Extreme High-Density Lipoprotein Cholesterol Levels

(2013) Mohammad Mahdi Motazacker et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

(2012) Folkert W. Asselbergs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

(2012) Marianne Benn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

(2009) Maria Romano et al.   ATHEROSCLEROSIS

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

(2008) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alterations in Hepatic Metabolism in fld Mice Reveal a Role for Lipin 1 in Regulating VLDL-Triacylglyceride Secretion

(2008) Zhouji Chen et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients

(2008) Clive R. Pullinger et al.   JOURNAL OF LIPID RESEARCH