Use of next-generation sequencing to detectLDLRgene copy number variation in familial hypercholesterolemia

Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?

(2017) Børge G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Recent advances in genetic testing for familial hypercholesterolemia

(2017) Michael A. Iacocca et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Prevalence of familial hypercholesterolemia: a meta-analysis of six large, observational, population-based studies in Poland

(2016) Andrzej Pajak et al.   Archives of Medical Science

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights

(2016) Jian Wang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

Child–Parent Familial Hypercholesterolemia Screening in Primary Care

(2016) David S. Wald et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

Targeted next-generation sequencing in monogenic dyslipidemias

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

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial

(2015) Frederick J Raal et al.   LANCET

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome

(2014) Barbara Sjouke et al.   EUROPEAN HEART JOURNAL

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

(2014) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

(2012) Ebele Usifo et al.   ANNALS OF HUMAN GENETICS

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Modeling Read Counts for CNV Detection in Exome Sequencing Data

(2011) Michael I. Love et al.   Statistical Applications in Genetics and Molecular Biology

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

(2010) Radan Goldmann et al.   BMC Medical Genetics

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

(2009) Chao Xie et al.   BMC BIOINFORMATICS

Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia

(2009) A Taylor et al.   CLINICAL GENETICS