(Q30301147)

13 October 2017

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction (English)

1 reference

13 October 2017

myocardial infarction

1 reference

41

1 reference

13 October 2017

81

Eric S Lander

1 reference

13 October 2017

78

Charles Kooperberg

1 reference

13 October 2017

Nathan O Stitziel

2

0 references

Hong-Hee Won

Hong-Hee Won

3

0 references

Nicola Martinelli

Nicola Martinelli

18

0 references

Themistocles L Assimes

Themistocles L Assimes

48

0 references

Rosanna Asselta

Rosanna Asselta

12

0 references

Stefano Duga

Stefano Duga

5

0 references

Muredach P. Reilly

Muredach P Reilly

69

0 references

Robert A. Hegele

38

Robert A Hegele

0 references

John A. Spertus

70

John A Spertus

1 reference

13 October 2017

85

Anne Tybjaerg-Hansen

1 reference

13 October 2017

29

Nilesh J Samani

1 reference

13 October 2017

Peter Donnelly

59

0 references

Danish Saleheen

23

Danish Saleheen

1 reference

13 October 2017

94

Sekar Kathiresan

1 reference

13 October 2017

33

William E Kraus

1 reference

13 October 2017

54

Anders Hamsten

1 reference

13 October 2017

47

Yongmei Liu

1 reference

13 October 2017

49

Gerardo Heiss

1 reference

13 October 2017

51

Aaron R Folsom

1 reference

13 October 2017

92

David Altshuler

1 reference

13 October 2017

83

David S Siscovick

1 reference

13 October 2017

61

Bruce M Psaty

1 reference

13 October 2017

63

James G Wilson

1 reference

13 October 2017

24

John Danesh

1 reference

13 October 2017

68

Daniel J Rader

1 reference

13 October 2017

67

L Adrienne Cupples

1 reference

13 October 2017

Christopher J O'Donnell

91

Christopher J O'Donnell

1 reference

13 October 2017

Anuj Goel

9

1 reference

ORCID Public Data File 2021

Deborah A Nickerson

88

Deborah A Nickerson

1 reference

13 October 2017

10

Or Zuk

1 reference

13 October 2017

19

Deborah N Farlow

1 reference

13 October 2017

13

Leslie A Lange

1 reference

13 October 2017

62

David M Herrington

1 reference

13 October 2017

89

Diego Ardissino

1 reference

13 October 2017

15

Paul L Auer

1 reference

13 October 2017

86

Goncalo R Abecasis

1 reference

13 October 2017

66

Russell P Tracy

1 reference

13 October 2017

14

Gina M Peloso

1 reference

13 October 2017

28

John J Kastelein

1 reference

13 October 2017

52

Herman A Taylor

1 reference

13 October 2017

65

Michael J Bamshad

1 reference

NHLBI GO Exome Sequencing Project

13 October 2017

16

NHLBI Exome Sequencing Project

1 reference

13 October 2017

71

Sharon Cresci

1 reference

13 October 2017

82

Stephen M Schwartz

1 reference

13 October 2017

64

Stephen S Rich

1 reference

13 October 2017

32

Svati H Shah

1 reference

13 October 2017

40

Winfried Marz

1 reference

13 October 2017

74

Stanley L Hazen

1 reference

13 October 2017

Pier Angelica Merlini

6

Pier Angelica Merlini

1 reference

13 October 2017

20

Mark A DePristo

1 reference

13 October 2017

8

Martin Farrall

1 reference

13 October 2017

84

Ruth McPherson

1 reference

13 October 2017

27

G Kees Hovingh

1 reference

13 October 2017

Suthesh Sivapalaratnam

26

Suthesh Sivapalaratnam

1 reference

13 October 2017

35

Majid Nikpay

1 reference

13 October 2017

90

Shamil R Sunyaev

1 reference

13 October 2017

75

Hooman Allayee

1 reference

13 October 2017

72

Jaana Hartiala

1 reference

13 October 2017

39

Eliana Hechter

1 reference

13 October 2017

43

Andrew D Johnson

1 reference

13 October 2017

79

Rebecca D Jackson

1 reference

13 October 2017

Ron Do

1

1 reference

13 October 2017

Anders Berg Jørgensen

4

1 reference

13 October 2017

Illaria Guella

11

1 reference

13 October 2017

Robert Roberts

21

1 reference

13 October 2017

Alexander F R Stewart

22

1 reference

13 October 2017

Stephen E Epstein

25

1 reference

13 October 2017

Robert Davies

34

1 reference

13 October 2017

Christopher T Johansen

36

1 reference

13 October 2017

Jian Wang

37

1 reference

13 October 2017

Jie Huang

42

1 reference

13 October 2017

Mingyao Li

44

1 reference

13 October 2017

Greg L Burke

45

1 reference

13 October 2017

Myron Gross

46

1 reference

13 October 2017

Ethan M Lange

50

1 reference

13 October 2017

Robert Clarke

55

1 reference

13 October 2017

Dermot F Reilly

56

1 reference

13 October 2017

Wu Yin

57

1 reference

13 October 2017

Manuel A Rivas

58

1 reference

13 October 2017

Jacques E Rossouw

60

1 reference

13 October 2017

W H Wilson Tang

73

1 reference

13 October 2017

Alex P Reiner

76

1 reference

13 October 2017

Christopher S Carlson

77

1 reference

13 October 2017

language of work or name

English

0 references

publication date

10 December 2014

1 reference

13 October 2017

1 reference

13 October 2017

518

1 reference

13 October 2017

7537

1 reference

13 October 2017

102-106

1 reference

Loss-of-function mutations in APOC3 and risk of ischemic vascular disease

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A polygenic burden of rare disruptive mutations in schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Common variants associated with plasma triglycerides and risk for coronary artery disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Remnant cholesterol as a causal risk factor for ischemic heart disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Large-scale association analysis identifies new risk loci for coronary artery disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A framework for variation discovery and genotyping using next-generation DNA sequencing data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A map of human genome variation from population-scale sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

METAL: fast and efficient meta-analysis of genomewide association scans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Variance component model to account for sample structure in genome-wide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

The Sequence Alignment/Map format and SAMtools

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Fast and accurate short read alignment with Burrows-Wheeler transform

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Power of deep, all-exon resequencing for discovery of human trait genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

PLINK: a tool set for whole-genome association and population-based linkage analyses

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Genomewide association analysis of coronary artery disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A new multipoint method for genome-wide association studies by imputation of genotypes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A common allele on chromosome 9 associated with coronary heart disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A common variant on chromosome 9p21 affects the risk of myocardial infarction

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Principal components analysis corrects for stratification in genome-wide association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Automating sequence-based detection and genotyping of SNPs from diploid samples

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Parental cardiovascular disease as a risk factor for cardiovascular disease in middle-aged adults: a prospective study of parents and offspring

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Prediction of deleterious human alleles

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Myocardial infarction redefined--a consensus document of The Joint European Society of Cardiology/American College of Cardiology Committee for the redefinition of myocardial infarction

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Consed: a graphical tool for sequence finishing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

A receptor-mediated pathway for cholesterol homeostasis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE13917

Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE13917

Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4319990

Genetic susceptibility to death from coronary heart disease in a study of twins

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25487149

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Common variants at 30 loci contribute to polygenic dyslipidemia

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE13917

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE13917

1 reference

13 October 2017

1 reference

13 October 2017

1 reference