Genetic identification of familial hypercholesterolemia within a single U.S. health care system
出版年份 2016 全文链接
标题
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
作者
关键词
-
出版物
SCIENCE
Volume 354, Issue 6319, Pages aaf7000
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2016-12-23
DOI
10.1126/science.aaf7000
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started