Genetic Architecture of Familial Hypercholesterolaemia

Cardiovascular biomarkers in monogenic familial hypercholesterolaemia and polygenic hypercholesterolaemia

(2016) Mahtab Sharifi et al.   ATHEROSCLEROSIS

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

(2016) Thomas Grenkowitz et al.   ATHEROSCLEROSIS

Atherosclerosis in monogenic familial hypercholesterolemia versus polygenic hypercholesterolemia

(2016) M. Sharifi 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 panorama of familial hypercholesterolemia in Latin America: a systematic review

(2016) Roopa Mehta et al.   JOURNAL OF LIPID RESEARCH

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

(2016) Sarah Leigh et al.   JOURNAL OF MEDICAL GENETICS

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

(2016) Amit V. Khera et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Child–Parent Familial Hypercholesterolemia Screening in Primary Care

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

Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales

(2015) K. Haralambos et al.   ATHEROSCLEROSIS

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

(2015) J. A. Fernández-Higuero et al.   Scientific Reports

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers

(2014) Joost Besseling et al.   ATHEROSCLEROSIS

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

(2014) Sigrid W. Fouchier et al.   CIRCULATION RESEARCH

Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries

(2014) M. Futema et al.   CLINICAL CHEMISTRY

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

(2014) Barbara Sjouke et al.   EUROPEAN HEART JOURNAL

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

(2014) M. Cuchel et al.   EUROPEAN HEART JOURNAL

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Coronary Computed Tomographic Angiographic Findings in Asymptomatic Patients With Heterozygous Familial Hypercholesterolemia and Null Allele Low-Density Lipoprotein Receptor Mutations

(2013) David Viladés Medel et al.   AMERICAN JOURNAL OF CARDIOLOGY

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

(2013) Nathan O. Stitziel et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

(2013) Marta Futema et al.   ATHEROSCLEROSIS

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

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Identification and biochemical analysis of a novelAPOBmutation that causes autosomal dominant hypercholesterolemia

(2013) Ellen R. A. Thomas et al.   Molecular Genetics & Genomic Medicine

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

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

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation

(2012) Marie Marduel et al.   HUMAN MUTATION

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

(2011) D. M. Kusters et al.   Netherlands Heart Journal

PCSK9R46L, Low-Density Lipoprotein Cholesterol Levels, and Risk of Ischemic Heart Disease

(2010) Marianne Benn et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2010) Tanya M. Teslovich et al.   NATURE

Healthy Individuals Carrying the PCSK9 p.R46L Variant and Familial Hypercholesterolemia Patients Carrying PCSK9 p.D374Y Exhibit Lower Plasma Concentrations of PCSK9

(2009) S. E. Humphries et al.   CLINICAL CHEMISTRY

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

(2009) A Taylor et al.   CLINICAL GENETICS

Sonographic evaluation of Achilles tendons and carotid atherosclerosis in familial hypercholesterolemia

(2008) Estibaliz Jarauta et al.   ATHEROSCLEROSIS

What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

(2008) Steve E Humphries et al.   CURRENT OPINION IN LIPIDOLOGY

Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting

(2008) Fernando Civeira et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project

(2008) S G Hadfield et al.   ANNALS OF CLINICAL BIOCHEMISTRY

Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography

(2007) Raul D. Santos et al.   ATHEROSCLEROSIS