(Q37613798)

21 August 2017

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps (English)

1 reference

Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

21 August 2017

1 reference

corrigendum / erratum

1 reference

6

1 reference

21 August 2017

16

1 reference

21 August 2017

45

1 reference

21 August 2017

Hugh Christian Watkins

62

1 reference

21 August 2017

65

1 reference

21 August 2017

Cornelia M. van Duijn

61

Cornelia M van Duijn

0 references

Nicole Soranzo

68

Nicole Soranzo

0 references

Claudia Langenberg

55

Claudia Langenberg

0 references

Eleftheria Zeggini

63

Eleftheria Zeggini

1 reference

21 August 2017

54

Charles Kooperberg

1 reference

21 August 2017

Kalliope Panoutsopoulou

27

Kalliope Panoutsopoulou

0 references

Lu Chen

Lu Chen

8

0 references

John A Morris

John A Morris

3

0 references

Valentina Iotchkova

Valentina Iotchkova

1

0 references

Daniel Mead

Daniel Mead

24

0 references

Patrick Deelen

Patrick Deelen

11

0 references

Adam S. Butterworth

Adam Butterworth

42

0 references

Maria Sabater-Lleal

Maria Sabater-Lleal

31

0 references

Gianluigi Zaza

Gianluigi Zaza

38

0 references

Najaf Amin

Najaf Amin

41

0 references

Lude Franke

Lude Franke

47

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Oscar H Franco

Oscar H Franco

46

0 references

Morris A Swertz

58

Morris A Swertz

1 reference

21 August 2017

32

Bengt Sennblad

1 reference

21 August 2017

51

Anders Hamsten

1 reference

21 August 2017

30

Fernando Rivadeneira

1 reference

21 August 2017

17

Albert Hofman

1 reference

21 August 2017

53

Jaspal S Kooner

1 reference

21 August 2017

25

Yasin Memari

1 reference

21 August 2017

60

Andre G Uitterlinden

1 reference

21 August 2017

57

Robert A Scott

1 reference

21 August 2017

19

Marcus E Kleber

1 reference

21 August 2017

5

Caterina Barbieri

1 reference

21 August 2017

56

Winfried Marz

1 reference

21 August 2017

67

Paul L Auer

1 reference

21 August 2017

34

Lorraine Southam

1 reference

21 August 2017

13

Aliki-Eleni Farmaki

1 reference

21 August 2017

49

Giovanni Gambaro

1 reference

21 August 2017

23

Angela Matchan

1 reference

21 August 2017

26

Ioanna Ntalla

1 reference

21 August 2017

66

Alexander P Reiner

1 reference

21 August 2017

28

Raha Pazoki

1 reference

21 August 2017

59

Daniela Toniolo

1 reference

21 August 2017

35

Michela Traglia

1 reference

21 August 2017

22

Giovanni Malerba

1 reference

21 August 2017

Jie Huang

2

1 reference

21 August 2017

Deepti Jain

4

1 reference

21 August 2017

Josine L Min

7

1 reference

21 August 2017

William Astle

9

1 reference

21 August 2017

Massimilian Cocca

10

1 reference

21 August 2017

Heather Elding

12

1 reference

21 August 2017

Christopher S Franklin

14

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21 August 2017

Mattias Franberg

15

1 reference

21 August 2017

Tao Jiang

18

1 reference

21 August 2017

Genevieve Lachance

20

1 reference

21 August 2017

Jian'an Luan

21

1 reference

21 August 2017

Kalliope Panoutsopoulou

27

1 reference

21 August 2017

John R B Perry

29

1 reference

21 August 2017

So-Youn Shin

33

1 reference

21 August 2017

Freerk van Dijk

36

1 reference

21 August 2017

Elisabeth M van Leeuwen

37

1 reference

21 August 2017

Weihua Zhang

39

1 reference

21 August 2017

UK10K Consortium

40

1 reference

21 August 2017

John C Chambers

43

1 reference

21 August 2017

George Dedoussis

44

1 reference

21 August 2017

Mattia Frontini

48

1 reference

21 August 2017

Paolo Gasparini

50

1 reference

21 August 2017

Aaron Issacs

52

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21 August 2017

Mathew T Maurano

64

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21 August 2017

language of work or name

English

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publication date

26 September 2016

1 reference

21 August 2017

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21 August 2017

48

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11

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21 August 2017

1303-1312

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.3668

21 August 2017

0 references

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Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

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23 August 2017

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Large-scale identification of sequence variants influencing human transcription factor occupancy in vivo

23 August 2017

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From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation

23 August 2017

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dbSUPER: a database of super-enhancers in mouse and human genome

23 August 2017

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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

23 August 2017

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The UK10K project identifies rare variants in health and disease

23 August 2017

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Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels

23 August 2017

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Sphingosine 1-Phosphate Receptor 2 and 3 Mediate Bone Marrow-Derived Monocyte/Macrophage Motility in Cholestatic Liver Injury in Mice

23 August 2017

1 reference

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A method to predict the impact of regulatory variants from DNA sequence

23 August 2017

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The impact of low-frequency and rare variants on lipid levels

23 August 2017

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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

23 August 2017

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Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

23 August 2017

1 reference

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Whole-genome sequence-based analysis of thyroid function.

23 August 2017

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Integrative analysis of 111 reference human epigenomes

23 August 2017

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A genome-wide association study of marginal zone lymphoma shows association to the HLA region

23 August 2017

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Intronic locus determines SHROOM3 expression and potentiates renal allograft fibrosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Identifying causal variants at loci with multiple signals of association

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Trans-ethnic meta-analysis of white blood cell phenotypes

23 August 2017

1 reference

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Whole-genome sequence variation, population structure and demographic history of the Dutch population

23 August 2017

1 reference

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Functional analysis of the TRIB1 associated locus linked to plasma triglycerides and coronary artery disease.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

A dominant-negative GFI1B mutation in the gray platelet syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Super-enhancers in the control of cell identity and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Discovery and refinement of loci associated with lipid levels

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Transcriptome and genome sequencing uncovers functional variation in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Systematic identification of trans eQTLs as putative drivers of known disease associations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

GFI1B mutation causes a bleeding disorder with abnormal platelet function.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

The pathogenesis of the antiphospholipid syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

PKCα negatively regulates in vitro proplatelet formation and in vivo platelet production in mice.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

A comprehensive SNP and indel imputability database

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Seventy-five genetic loci influencing the human red blood cell

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Bayesian refinement of association signals for 14 loci in 3 common diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

The accessible chromatin landscape of the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

An integrated encyclopedia of DNA elements in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Induction of functional platelets from mouse and human fibroblasts by p45NF-E2/Maf

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Cohort profile: the 'children of the 90s'—the index offspring of the Avon Longitudinal Study of Parents and Children

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

New gene functions in megakaryopoiesis and platelet formation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

A linear complexity phasing method for thousands of genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

The variant call format and VCFtools

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

GWAMA: software for genome-wide association meta-analysis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

PKCalpha regulates platelet granule secretion and thrombus formation in mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

SLC2A9 is a high-capacity urate transporter in humans

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Shroom regulates epithelial cell shape via the apical positioning of an actomyosin network

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Dimers of beta 2-glycoprotein I increase platelet deposition to collagen via interaction with phospholipids and the apolipoprotein E receptor 2'

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Impaired megakaryopoiesis and behavioral defects in mafG-null mutant mice

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

The role of TRIB1 in lipid metabolism; from genetics to pathways.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

A short Gfi-1B isoform controls erythroid differentiation by recruiting the LSD1-CoREST complex through the dimethylation of its SNAG domain.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Recent developments in our understanding of the antiphospholipid syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Sphingosine-1-phosphate/S1P receptors signaling modulates cell migration in human bone marrow-derived mesenchymal stem cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Effects of age on genetic influence on bone loss over 17 years in women: the Healthy Ageing Twin Study (HATS).

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

BLUEPRINT to decode the epigenetic signature written in blood.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Identification of a common gene expression signature associated with immature clonal mesenchymal cell populations derived from bone marrow and dental tissues.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Bayes factors for genome-wide association studies: comparison with P-values

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

p53-Binding protein 1 is fused to the platelet-derived growth factor receptor beta in a patient with a t(5;15)(q33;q22) and an imatinib-responsive eosinophilic myeloproliferative disorder

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Binding of low density lipoprotein to platelet apolipoprotein E receptor 2' results in phosphorylation of p38MAPK.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5279872

Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27668658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of structural mutations in the fifth domain of apolipoprotein H (beta 2-glycoprotein I) which affect phospholipid binding

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27668658

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3668

1 reference

21 August 2017

1 reference

21 August 2017

1 reference