Recent advances in genetic testing for familial hypercholesterolemia

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

(2017) Steven M. Harrison et al.   GENETICS IN MEDICINE

LDLR Variant Databases and Familial Hypercholesterolemia Population Studies

(2017) Lars Andersen et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

(2016) Robert C. Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial HypercholesterolaemiaHighlights

(2016) Leopoldo Pérez de Isla et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained ClinicallyHighlights

(2016) Jian Wang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United StatesCLINICAL PERSPECTIVE

(2016) Emil M. deGoma et al.   Circulation-Cardiovascular Genetics

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

(2016) Marianne Benn et al.   EUROPEAN HEART JOURNAL

Children with hypercholesterolemia of unknown cause: Value of genetic risk scores

(2016) Barbara Sjouke et al.   Journal of Clinical Lipidology

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

(2016) Amit V. Khera et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Child–Parent Familial Hypercholesterolemia Screening in Primary Care

(2016) David S. Wald et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United StatesCLINICAL PERSPECTIVE

(2016) Emil M. deGoma et al.   Circulation-Cardiovascular Genetics

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

(2016) Raul D Santos et al.   Lancet Diabetes & Endocrinology

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

(2015) Cinthia E. Jannes et al.   ATHEROSCLEROSIS

Cascade screening of familial hypercholesterolemia must go on

(2015) J.M.H. Galema-Boers et al.   ATHEROSCLEROSIS

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: An Australian experience

(2015) Damon A. Bell et al.   ATHEROSCLEROSIS

The Agenda for Familial Hypercholesterolemia

(2015) Samuel S. Gidding et al.   CIRCULATION

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

(2015) Albert Wiegman et al.   EUROPEAN HEART JOURNAL

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

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial

(2015) Frederick J Raal et al.   LANCET

Management of patients with familial hypercholesterolaemia

(2015) Željko Reiner   Nature Reviews Cardiology

Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia

(2014) Jacques Genest et al.   CANADIAN JOURNAL OF CARDIOLOGY

Sequencing: The Next Generation—What Is the Role of Whole-Exome Sequencing in the Diagnosis of Familial Cardiovascular Diseases?

(2014) Sali M.K. Farhan et al.   CANADIAN JOURNAL OF CARDIOLOGY

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

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

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias

(2014) Christopher T. Johansen et al.   JOURNAL OF LIPID RESEARCH

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

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

Exome Sequencing: New Insights into Lipoprotein Disorders

(2014) Sali M. K. Farhan et al.   Current Cardiology Reports

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

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

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

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

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Significance of Genome-Wide Analysis of Copy Number Alterations and UPD in Myelodysplastic Syndromes using Combined CGH – SNP Arrays

(2012) Ausaf Ahmad et al.   CURRENT MEDICINAL CHEMISTRY

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Diagnosis of Familial Hypercholesterolemia in General Practice Using Clinical Diagnostic Criteria or Genetic Testing as Part of Cascade Genetic Screening

(2008) Trond P. Leren et al.   Public Health Genomics