Familial hypercholesterolaemia: a common disease

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

Familial hypercholesterolaemia: A global call to arms

(2015) Antonio J. Vallejo-Vaz et al.   ATHEROSCLEROSIS

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

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

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

(2014) Barbara Sjouke et al.   EUROPEAN HEART JOURNAL

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

(2014) Ron Do et al.   NATURE

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

Discriminative Ability of LDL-Cholesterol to Identify Patients With Familial Hypercholesterolemia

(2012) Roeland Huijgen et al.   Circulation-Cardiovascular 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

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

(2010) Roeland Huijgen et al.   HUMAN MUTATION