The importance of an integrated analysis of clinical, molecular and functional data for the genetic diagnosis of familial hypercholesterolemia

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

Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants

(2014) Aitor Etxebarria et al.   HUMAN MUTATION

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment

(2014) Aitor Etxebarria et al.   PLoS One

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

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

In vitro functional characterization of missense mutations in the LDLR gene

(2012) S. Silva et al.   ATHEROSCLEROSIS

Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants

(2012) Roeland Huijgen et al.   EUROPEAN HEART JOURNAL

ESC/EAS Guidelines for the management of dyslipidaemias: The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS)

(2011) et al.   EUROPEAN HEART JOURNAL

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

(2011) Aitor Etxebarria et al.   HUMAN MUTATION

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

(2011) D. M. Kusters et al.   Netherlands Heart Journal

Update of the Portuguese Familial Hypercholesterolaemia Study

(2010) A.M. Medeiros et al.   ATHEROSCLEROSIS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Familial hypercholesterolaemia in Portugal

(2007) M. Bourbon et al.   ATHEROSCLEROSIS