Genetic variation inAPOB,PCSK9, andANGPTL3in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

Familial Defective Apolipoprotein B and Familial Hypobetalipoproteinemia in One Family: Two Neutralizing Mutations

(2013) Anouk van der Graaf et al.   ANNALS OF INTERNAL MEDICINE

Assessment of Carotid Atherosclerosis in Normocholesterolemic Individuals With Proven Mutations in the Low-Density Lipoprotein Receptor or Apolipoprotein B Genes

(2011) Roeland Huijgen et al.   Circulation-Cardiovascular Genetics

Epigenetics in cardiovascular disease

(2011) Apurva V Shirodkar et al.   CURRENT OPINION IN CARDIOLOGY

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability

(2011) Serena Sanna et al.   PLoS Genetics

Effect of Mipomersen, an Apolipoprotein B Synthesis Inhibitor, on Low-Density Lipoprotein Cholesterol in Patients With Familial Hypercholesterolemia

(2010) Fatima Akdim et al.   AMERICAN JOURNAL OF CARDIOLOGY

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

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

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

Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes

(2009) Thea Bismo Strøm et al.   CLINICA CHIMICA ACTA

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

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia

(2008) Trond P. Leren et al.   CLINICA CHIMICA ACTA

APCSK9Missense Variant Associated with a Reduced Risk of Early-Onset Myocardial Infarction

(2008) Sekar Kathiresan   NEW ENGLAND JOURNAL OF MEDICINE

Therapeutic RNAi targeting PCSK9 acutely lowers plasma cholesterol in rodents and LDL cholesterol in nonhuman primates

(2008) M. Frank-Kamenetsky et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA