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

Familial hypercholesterolaemia: A pressing issue for European health care

(2013) Philippa Brice et al.   ATHEROSCLEROSIS

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

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

Identification of people with heterozygous familial hypercholesterolemia

(2012) Annie Haase et al.   CURRENT OPINION IN LIPIDOLOGY

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cardiovascular Health: The Global Challenge

(2011) S A Waldman et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Chronic Diseases: The Emerging Pandemic

(2011) Andre Terzic et al.   CTS-Clinical and Translational Science

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

(2011) Aitor Etxebarria et al.   HUMAN MUTATION

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner et al.   HUMAN MUTATION

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations

(2011) Maria Romano et al.   JOURNAL OF LIPID RESEARCH

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

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

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

A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: Application of the CD3/CD28 assay in lymphocytes

(2008) Hayato Tada et al.   CLINICA CHIMICA ACTA