LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank

A Polygenic Risk Score for Low-density Lipoprotein Cholesterol is Associated with Risk of Ischemic Heart Disease and Enriches for Individuals with Familial Hypercholesterolemia

(2021) Haoyu Wu et al.   Circulation-Genomic and Precision Medicine

Genetic basis of hypercholesterolemia in adults

(2021) Seyedmohammad Saadatagah et al.   npj Genomic Medicine

The power of genetic diversity in genome-wide association studies of lipids

(2021) Sarah E. Graham et al.   NATURE

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

(2021) et al.   NATURE MEDICINE

The Genetic Architecture of Depression in Individuals of East Asian Ancestry

(2021) Olga Giannakopoulou et al.   JAMA Psychiatry

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

(2020) Cibelle Mariano et al.   CLINICAL GENETICS

Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease

(2020) Mark Trinder et al.   JAMA Cardiology

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia

(2018) Marta Futema et al.   ATHEROSCLEROSIS

Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

(2017) Almudena Amor-Salamanca et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis

(2017) Leo E Akioyamen et al.   BMJ Open

Incorporating a Genetic Risk Score Into Coronary Heart Disease Risk EstimatesCLINICAL PERSPECTIVE

(2016) Iftikhar J. Kullo et al.   CIRCULATION

mice: Multivariate Imputation by Chained Equations inR

(2015) Stef van Buuren et al.   Journal of Statistical Software

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

(2013) Marta Futema 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

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

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

(2012) Mohammad Mahdi Motazacker et al.   EUROPEAN HEART JOURNAL

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

(2010) Tanya M. Teslovich et al.   NATURE

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

(2009) A Taylor et al.   CLINICAL GENETICS