Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

(2014) Ingrid Brænne et al.   BMC Cardiovascular Disorders

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

(2014) Sigrid W. Fouchier et al.   CIRCULATION RESEARCH

PCSK9 gene mutations and low-density lipoprotein cholesterol

(2014) Na-Qiong Wu et al.   CLINICA CHIMICA ACTA

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

What is new in familial hypercholesterolemia?

(2014) Raul D. Santos et al.   CURRENT OPINION IN LIPIDOLOGY

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

(2014) Martin Kircher et al.   NATURE GENETICS

Familial hypercholesterolaemia: A pressing issue for European health care

(2013) Philippa Brice et al.   ATHEROSCLEROSIS

Familial Hypercholesterolemia: An Under-recognized but Significant Concern in Cardiology Practice

(2013) JoAnne M. Foody   CLINICAL CARDIOLOGY

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

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green 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

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

(2012) Marianne Benn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

(2011) Lucie Dušková et al.   ATHEROSCLEROSIS

Accelerated subclinical coronary atherosclerosis in patients with familial hypercholesterolemia

(2011) Lisan A. Neefjes et al.   ATHEROSCLEROSIS

Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

(2011) Anne C. Goldberg et al.   Journal of Clinical Lipidology

Guía de la ESC/EAS sobre el manejo de las dislipemias

(2011) Željko Reiner et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

(2010) Radan Goldmann et al.   BMC Medical Genetics

Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene

(2010) M. T. Tejedor et al.   MOLECULAR GENETICS AND GENOMICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia

(2009) R Minhas et al.   HEART

New susceptibility locus for coronary artery disease on chromosome 3q22.3

(2009) Jeanette Erdmann et al.   NATURE GENETICS