A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease

Familial Hypercholesterolemia—Epidemiology, Diagnosis, and Screening

(2015) Siddharth Singh et al.   Current Atherosclerosis 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

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

(2014) Valgerdur Steinthorsdottir et al.   NATURE GENETICS

Correction: Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study

(2014) Patrick Linsel-Nitschke et al.   PLoS One

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

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

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

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

(2012) Cole Trapnell et al.   Nature Protocols

Prevention of non-communicable disease in a population in nutrition transition: Tehran Lipid and Glucose Study phase II

(2012) Fereidoun Azizi et al.   Trials

The Role of Non-HDL Cholesterol in Risk Stratification for Coronary Artery Disease

(2011) Jamal S. Rana et al.   Current Atherosclerosis Reports

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

(2011) Heribert Schunkert et al.   NATURE GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

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

The LDL Receptor

(2009) Joseph L. Goldstein et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations

(2009) M Bourbon et al.   JOURNAL OF MEDICAL GENETICS

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

(2009) Øystein L. Holla et al.   MOLECULAR GENETICS AND METABOLISM

Parental origin of sequence variants associated with complex diseases

(2009) Augustine Kong et al.   NATURE

Genetics of gene expression and its effect on disease

(2008) Valur Emilsson et al.   NATURE

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS

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

(2008) Cristen J Willer et al.   NATURE GENETICS

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

(2008) Yurii S Aulchenko et al.   NATURE GENETICS