Identification of the gene defect responsible for severe hypercholesterolaemia using whole-exome sequencing

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

(2014) M. Cuchel et al.   EUROPEAN HEART JOURNAL

Functional Characterization of Two Low-Density Lipoprotein Receptor Gene Mutations in Two Chinese Patients with Familial Hypercholesterolemia

(2014) Haihong Wang et al.   PLoS One

Use of Targeted Exome Sequencing in Genetic Diagnosis of Chinese Familial Hypercholesterolemia

(2014) Wen-Feng Wu et al.   PLoS One

Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry

(2013) Emily C. O’Brien et al.   AMERICAN HEART JOURNAL

Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing

(2013) Fathimath Faiz et al.   ATHEROSCLEROSIS

Familial hypercholesterolaemia: A pressing issue for European health care

(2013) Philippa Brice et al.   ATHEROSCLEROSIS

Carotid Intima-Media Thickness in Children With Familial Hypercholesterolemia

(2013) Dorothé M. Kusters et al.   CIRCULATION RESEARCH

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

JCL Roundtable: Diagnosis of severe familial hypercholesterolemia

(2013) W. Virgil Brown et al.   Journal of Clinical Lipidology

Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing

(2012) K. H. Lim et al.   BIOINFORMATICS

Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases

(2012) Miao Hu et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

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

Functional characterization of splicing and ligand-binding domain variants in the LDL receptor

(2011) Aitor Etxebarria et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE 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

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

(2011) K. H. Lim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Detection of Mutations and Large Rearrangements of the Low-Density Lipoprotein Receptor Gene in Taiwanese Patients With Familial Hypercholesterolemia

(2010) Kuan-Rau Chiou et al.   AMERICAN JOURNAL OF CARDIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

(2010) J. Rios et al.   HUMAN MOLECULAR GENETICS

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

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

(2009) A Taylor et al.   CLINICAL GENETICS

A novel mutation of the LDL receptor gene leading to familial hypercholesterolemia

(2009) Pengyu Su et al.   EUROPEAN JOURNAL OF LIPID SCIENCE AND TECHNOLOGY

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

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

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

Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients

(2008) L. Wang et al.   NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES