Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

(2014) Francesca Romana Lepri et al.   BMC Medical Genetics

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 use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

(2013) Jana Vandrovcova et al.   GENETICS IN MEDICINE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm 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

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Discriminative Ability of LDL-Cholesterol to Identify Patients With Familial Hypercholesterolemia

(2012) Roeland Huijgen et al.   Circulation-Cardiovascular Genetics

Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness

(2012) Blair H Smith et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

Next Generation Diagnostics in Inherited Arrhythmia Syndromes

(2012) James S. Ware et al.   Journal of Cardiovascular Translational Research

High total serum cholesterol, medication coverage and therapeutic control: an analysis of national health examination survey data from eight countries

(2011) Gregory A Roth et al.   BULLETIN OF THE WORLD HEALTH ORGANIZATION

Molecular Basis of Autosomal Dominant Hypercholesterolemia

(2011) Anouk van der Graaf et al.   CIRCULATION

Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies

(2011) L. Nherera et al.   HEART

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

(2010) Roeland Huijgen et al.   HUMAN MUTATION

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz 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

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

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

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

(2008) A. Neil et al.   EUROPEAN HEART JOURNAL

Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre

(2007) J Gray et al.   HEART