Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations

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

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

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

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

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Expanding Roles for SREBP in Metabolism

(2012) Wei Shao et al.   Cell Metabolism

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

(2012) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

Genome-Wide Linkage Scan of a Pedigree with Familial Hypercholesterolemia Suggests Susceptibility Loci on Chromosomes 3q25-26 and 21q22

(2011) Xu Wang et al.   PLoS One

Genomics and proteomics of vertebrate cholesterol ester lipase (LIPA) and cholesterol 25-hydroxylase (CH25H)

(2011) Roger S. Holmes et al.   3 Biotech

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

(2010) A Cenarro et al.   CLINICAL GENETICS

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

(2010) Alice Marques-Pinheiro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2010) Tanya M. Teslovich et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

(2009) A Taylor et al.   CLINICAL GENETICS

Mutation screening in patients for familial hypercholesterolaemia (ADH)

(2009) A Taylor et al.   CLINICAL GENETICS

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

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

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

(2008) A. Neil et al.   EUROPEAN HEART JOURNAL