The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

Familial hypercholesterolaemia: A global call to arms

(2015) Antonio J. Vallejo-Vaz et al.   ATHEROSCLEROSIS

Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

(2015) Soo Min Han et al.   PLoS One

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

(2015) Li-Yuan Sun et al.   Scientific Reports

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

(2015) Aenne S. Thormaehlen et al.   PLoS Genetics

Refinement of Variant Selection for the LDL Cholesterol Genetic Risk Score in the Diagnosis of the Polygenic Form of Clinical Familial Hypercholesterolemia and Replication in Samples from 6 Countries

(2014) M. Futema et al.   CLINICAL CHEMISTRY

Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia

(2014) Simon-Pierre Guay et al.   Epigenetics

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

Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation

(2014) Gerald F. Watts et al.   Journal of Clinical Lipidology

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing

(2014) C. Maglio et al.   JOURNAL OF INTERNAL MEDICINE

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

(2014) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

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

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

(2013) Jana Vandrovcova et al.   GENETICS IN MEDICINE

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

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

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

Array-based resequencing for mutations causing familial hypercholesterolemia

(2011) Kuan-Rau Chiou et al.   ATHEROSCLEROSIS

Recurrent GNAS Mutations Define an Unexpected Pathway for Pancreatic Cyst Development

(2011) J. Wu et al.   Science Translational Medicine

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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

The LDL Receptor

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

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

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

Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database

(2008) S. E. A. Leigh et al.   ANNALS OF HUMAN GENETICS

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

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