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

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

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

(2016) David J. Carey et al.   GENETICS IN MEDICINE

A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice

(2016) Lakkhina Troeung et al.   HEART

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

Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

(2016) Frederick E. Dewey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data

(2015) Jonathan S. Packer et al.   BIOINFORMATICS

The Agenda for Familial Hypercholesterolemia

(2015) Samuel S. Gidding et al.   CIRCULATION

Cost-effectiveness analysis of alternative screening and treatment strategies for heterozygous familial hypercholesterolemia in the United States

(2015) Christina X. Chen et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

A Public Health Perspective on a National Precision Medicine Cohort

(2015) Muin J. Khoury et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Precision Medicine Initiative

(2015) Euan A. Ashley   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia: Part 2

(2015) Terry A. Jacobson et al.   Journal of Clinical Lipidology

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent

(2014) Jeffrey Staples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

Multiple Associated Variants Increase the Heritability Explained for Plasma Lipids and Coronary Artery Disease

(2014) H. Tada et al.   Circulation-Cardiovascular Genetics

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome

(2014) Barbara Sjouke et al.   EUROPEAN HEART JOURNAL

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults

(2013) Neil J. Stone et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

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

Secondary Causes of Dyslipidemia

(2012) Deepthi Vodnala et al.   AMERICAN JOURNAL OF CARDIOLOGY

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

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

Public Health Action in Genomics Is Now Needed beyond Newborn Screening

(2012) M.S. Bowen et al.   Public Health Genomics

ESC/EAS Guidelines for the management of dyslipidaemias

(2011) Alberico L. Catapano et al.   ATHEROSCLEROSIS

Reduction in Mortality in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in Lipid-Lowering Therapy

(2011) Frederick J. Raal et al.   CIRCULATION

Treatment of adults with Familial Hypercholesterolemia and evidence for treatment: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

(2011) Jennifer G. Robinson et al.   Journal of Clinical Lipidology

Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

(2011) Paul N. Hopkins et al.   Journal of Clinical Lipidology

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

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

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial Defective Apolipoprotein B-100 and Increased Low-Density Lipoprotein Cholesterol and Coronary Artery Calcification in the Old Order Amish

(2010) Haiqing Shen et al.   ARCHIVES OF INTERNAL MEDICINE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) Tanya M. Teslovich et al.   NATURE

Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands

(2009) A.H. Pijlman et al.   ATHEROSCLEROSIS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Revisting wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

(2008) Anne Andermann   BULLETIN OF THE WORLD HEALTH ORGANIZATION