Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries

(2017) Raul D. Santos et al.   Journal of Clinical Lipidology

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

(2016) Thomas Grenkowitz et al.   ATHEROSCLEROSIS

2016 ESC/EAS Guidelines for the Management of Dyslipidaemias

(2016) Alberico L. Catapano et al.   EUROPEAN HEART JOURNAL

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

(2016) Sarah Leigh et al.   JOURNAL OF MEDICAL GENETICS

Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease

(2016) Amit V. Khera et al.   NEW ENGLAND JOURNAL OF MEDICINE

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population

(2015) Khalid Khalaf Alharbi et al.   ACTA BIOCHIMICA POLONICA

Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

(2015) Cinthia E. Jannes et al.   ATHEROSCLEROSIS

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

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

(2015) Asier Benito-Vicente et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Characterization of the First PCSK9 Gain of Function Homozygote

(2015) Ana Catarina Alves et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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 Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

(2013) Ana Catarina Alves et al.   HUMAN MOLECULAR GENETICS

In vitro functional characterization of missense mutations in the LDLR gene

(2012) S. Silva et al.   ATHEROSCLEROSIS

Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia

(2011) Gerardo Vaca et al.   ATHEROSCLEROSIS

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

(2011) Aitor Etxebarria et al.   HUMAN MUTATION

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

(2010) Marie Marduel et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

(2009) A Taylor et al.   CLINICAL GENETICS

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

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

Degradation of LDLR protein mediated by ‘gain of function’ PCSK9 mutants in normal and ARH cells

(2008) Tommaso Fasano et al.   ATHEROSCLEROSIS

Characterization of novel mutations in the catalytic domain of the PCSK9 gene

(2008) J. Cameron et al.   JOURNAL OF INTERNAL MEDICINE

Familial hypercholesterolaemia in Portugal

(2007) M. Bourbon et al.   ATHEROSCLEROSIS