Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease

(2010) Dawn M. Waterworth et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

(2010) Marie Marduel et al.   HUMAN MUTATION

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

(2010) Tanya M. Teslovich et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal

(2010) Roeland Huijgen et al.   PLoS One

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

LXR Regulates Cholesterol Uptake Through Idol-Dependent Ubiquitination of the LDL Receptor

(2009) Noam Zelcer et al.   SCIENCE

Genetic Loci Associated With Plasma Concentration of Low-Density Lipoprotein Cholesterol, High-Density Lipoprotein Cholesterol, Triglycerides, Apolipoprotein A1, and Apolipoprotein B Among 6382 White Women in Genome-Wide Analysis With Replication

(2008) Daniel I. Chasman et al.   Circulation-Cardiovascular Genetics

Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC)

(2008) Joanna Nelken et al.   CLINICAL BIOCHEMISTRY

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

(2008) Cristen J Willer et al.   NATURE GENETICS

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population

(2008) Ismael Ejarque et al.   Translational Research