Genetic identification of familial hypercholesterolemia within a single U.S. health care system (Q39070299)

8 September 2017

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

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familial hypercholesterolemia

8 September 2017

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based on heuristic

inferred from title

author

Claudia Gonzaga-Jauregui

6

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8 September 2017

21

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Omri Gottesman

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8 September 2017

Laney K Jones

3

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Marylyn D. Ritchie

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object named as

Marylyn D Ritchie

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8 September 2017

18

Ingrid B Borecki

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8 September 2017

23

David H Ledbetter

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8 September 2017

Noura S Abul-Husn

1

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8 September 2017

Kandamurugu Manickam

2

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8 September 2017

Eric A Wright

4

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8 September 2017

Dustin N Hartzel

5

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8 September 2017

Colm O'Dushlaine

7

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8 September 2017

Joseph B Leader

8

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8 September 2017

H Lester Kirchner

9

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8 September 2017

D'Andra M Lindbuchler

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8 September 2017

Marci L Barr

11

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8 September 2017

Monica A Giovanni

12

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8 September 2017

John D Overton

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8 September 2017

Jeffrey G Reid

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8 September 2017

Raghu P R Metpally

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8 September 2017

Amr H Wardeh

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8 September 2017

George D Yancopoulos

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8 September 2017

Aris Baras

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David J Carey

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8 September 2017

Frederick E Dewey

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8 September 2017

Michael F Murray

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8 September 2017

language of work or name

English

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publication date

1 December 2016

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8 September 2017

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354

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6319

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Public health action in genomics is now needed beyond newborn screening

8 September 2017

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The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association

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Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

21 January 2018

1 reference

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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

21 January 2018

1 reference

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Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

21 January 2018

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

21 January 2018

1 reference

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A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

21 January 2018

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

21 January 2018

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Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

21 January 2018

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Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish

21 January 2018

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Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study

21 January 2018

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

21 January 2018

1 reference

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Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

21 January 2018

1 reference

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Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

21 January 2018

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

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

21 January 2018

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2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent.

21 January 2018

1 reference

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Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

21 January 2018

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

21 January 2018

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Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease

21 January 2018

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

21 January 2018

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Secondary causes of dyslipidemia

21 January 2018

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

21 January 2018

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ESC/EAS Guidelines for the management of dyslipidaemias The Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS).

21 January 2018

1 reference

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Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication.

21 January 2018

1 reference

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Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy

21 January 2018

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

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Diagnostic clinical genome and exome sequencing

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Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands

21 January 2018

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

21 January 2018

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The precision medicine initiative: a new national effort

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A public health perspective on a national precision medicine cohort: balancing long-term knowledge generation with early health benefit

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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

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Fast and accurate short read alignment with Burrows-Wheeler transform

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

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From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

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A solution to the problem of separation in logistic regression.

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GCTA: a tool for genome-wide complex trait analysis

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Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

21 January 2018

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

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21 January 2018

Identifiers

DOI

10.1126/SCIENCE.AAF7000

1 reference

8 September 2017

1 reference