(Q37634534)

21 August 2017

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease (English)

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21 August 2017

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43

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21 August 2017

44

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55

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72

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21 August 2017

74

Nicole Soranzo

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Valentina Iotchkova

Valentina Iotchkova

45

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Daniel Mead

Daniel Mead

7

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David J Roberts

David J Roberts

71

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Daniel Rico

Daniel Rico

54

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Stuart Meacham

Stuart Meacham

32

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John J Lambourne

John J Lambourne

11

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Diego Garrido-Martín

Diego Garrido-Martín

60

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Kousik Kundu

Kousik Kundu

14

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Matthias Haimel

Matthias Haimel

24

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Dirk S Paul

Dirk S Paul

65

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Adam S. Butterworth

Adam S Butterworth

73

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John R Bradley

John R Bradley

17

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Kathleen Freson

Kathleen Freson

20

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Myrto Kostadima

Myrto A Kostadima

10

0 references

Guillaume Bourque

68

Guillaume Bourque

1 reference

21 August 2017

Roderic Guigó i Serra

63

Roderic Guigo

1 reference

21 August 2017

Alice L Mann

6

0 references

Jonathan Marchini

30

Jonathan Marchini

1 reference

21 August 2017

51

Taco W Kuijpers

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21 August 2017

56

Lu Chen

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Hendrik Gerard Stunnenberg

21 August 2017

48

Hendrik G Stunnenberg

1 reference

21 August 2017

Salih Tuna

39

0 references

Simon Sheard

Simon M Sheard

37

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David Bujold

David Bujold

67

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William Astle

William J Astle

1

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Olivier Delaneau

Olivier Delaneau

19

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Karyn Megy

Karyn Megy

33

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David Juan

David Juan

53

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John Danesh

70

John Danesh

1 reference

21 August 2017

13

Kate Downes

1 reference

21 August 2017

69

Mattia Frontini

1 reference

Romina Brignardello-Petersen

21 August 2017

35

Romina Petersen

1 reference

21 August 2017

5

Dace Ruklisa

1 reference

21 August 2017

2

Heather Elding

1 reference

21 August 2017

8

Heleen Bouman

1 reference

21 August 2017

31

Joost H A Martens

1 reference

21 August 2017

Martijn A van der Ent

40

Martijn van der Ent

1 reference

21 August 2017

16

Kim Berentsen

1 reference

21 August 2017

15

Lorenzo Bomba

1 reference

21 August 2017

25

Eva M Janssen-Megens

1 reference

21 August 2017

28

Bowon Kim

1 reference

21 August 2017

29

Amit Mandoli

1 reference

21 August 2017

36

Nilofar Sharifi

1 reference

21 August 2017

41

Klaudia Walter

1 reference

21 August 2017

66

Tomi Pastinen

1 reference

21 August 2017

26

Anita Kaan

1 reference

Enrique Carrillo de Santa Pau

21 August 2017

52

Enrique Carrillo-de-Santa-Pau

1 reference

21 August 2017

Tao Jiang

3

1 reference

21 August 2017

Dave Allen

4

1 reference

21 August 2017

Fernando Riveros-Mckay

9

1 reference

21 August 2017

Suthesh Sivapalaratnam

12

1 reference

21 August 2017

Louise C Daugherty

18

1 reference

21 August 2017

Stephen F Garner

21

1 reference

21 August 2017

Luigi Grassi

22

1 reference

21 August 2017

Jose Guerrero

23

1 reference

21 August 2017

Mihir Kamat

27

1 reference

21 August 2017

Jared O'Connell

34

1 reference

21 August 2017

James R Staley

38

1 reference

21 August 2017

Shuang-Yin Wang

42

1 reference

21 August 2017

Carmel Moore

46

1 reference

21 August 2017

Jennifer Sambrook

47

1 reference

21 August 2017

Emanuele Di Angelantonio

49

1 reference

21 August 2017

Stephen Kaptoge

50

1 reference

21 August 2017

Bing Ge

57

1 reference

21 August 2017

Louella Vasquez

58

1 reference

21 August 2017

Tony Kwan

59

1 reference

21 August 2017

Stephen Watt

61

1 reference

21 August 2017

Ying Yang

62

1 reference

21 August 2017

Stephan Beck

64

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21 August 2017

language of work or name

English

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publication date

1 November 2016

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21 August 2017

1 reference

21 August 2017

167

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21 August 2017

5

1 reference

21 August 2017

1415-1429.e19

1 reference

describes a project that uses

21 August 2017

1 reference

10 June 2022

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=5300907

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

23 August 2017

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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

23 August 2017

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A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias

23 August 2017

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Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.

23 August 2017

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23 August 2017

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Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

23 August 2017

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Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

23 August 2017

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23 August 2017

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Haplotype estimation for biobank-scale data sets

23 August 2017

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23 August 2017

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Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits

23 August 2017

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Inherited platelet disorders: toward DNA-based diagnosis

23 August 2017

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Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

23 August 2017

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23 August 2017

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Schizophrenia risk from complex variation of complement component 4

23 August 2017

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Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans

23 August 2017

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Quantifying prion disease penetrance using large population control cohorts

23 August 2017

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ClinVar: public archive of interpretations of clinically relevant variants

23 August 2017

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A global reference for human genetic variation

23 August 2017

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Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

23 August 2017

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Partitioning heritability by functional annotation using genome-wide association summary statistics

23 August 2017

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The UK10K project identifies rare variants in health and disease

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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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

23 August 2017

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Macrophages: development and tissue specialization

23 August 2017

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UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age

23 August 2017

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Second-generation PLINK: rising to the challenge of larger and richer datasets

23 August 2017

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Integrative analysis of 111 reference human epigenomes

23 August 2017

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Efficient Bayesian mixed-model analysis increases association power in large cohorts.

23 August 2017

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Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

23 August 2017

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The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial

23 August 2017

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GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database

23 August 2017

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Analytical validation of whole exome and whole genome sequencing for clinical applications

23 August 2017

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Fast principal component analysis of large-scale genome-wide data

23 August 2017

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Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

23 August 2017

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The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

23 August 2017

1 reference

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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

23 August 2017

1 reference

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Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory 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=5300907

Cytoskeleton in action: lissencephaly, a neuronal migration disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

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=5300907

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Meta-analysis of lymphocytes in schizophrenia: clinical status and antipsychotic effects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Genotype imputation with 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=5300907

ChromHMM: automating chromatin-state discovery and characterization

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Hepcidin and iron homeostasis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

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=5300907

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Differential white blood cell count and type 2 diabetes: systematic review and meta-analysis of cross-sectional and prospective studies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Integrating common and rare genetic variation in diverse human 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=5300907

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

The dual roles of red blood cells in tissue oxygen delivery: oxygen carriers and regulators of local blood flow

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Potential etiologic and functional implications of genome-wide association loci for human diseases and 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=5300907

Loss of pleckstrin defines a novel pathway for PKC-mediated exocytosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Inhibition of PCSK9 as a novel strategy for the treatment of hypercholesterolemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Cell-free hemoglobin-based blood substitutes and risk of myocardial infarction and death: a 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=5300907

Very young children with uncomplicated falciparum malaria have higher risk of hypoglycaemia: a study from Suriname

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

TACI is mutant in common variable immunodeficiency and IgA deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Hemochromatosis and iron-overload screening in a racially diverse population.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Red blood cell hemolysis during processing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Identification of the haemoglobin scavenger receptor.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

dbSNP: the NCBI database of genetic variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Mean platelet volume and coronary artery disease: a systematic review and meta-analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

ICON: the early diagnosis of congenital immunodeficiencies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Hypereosinophilia and seroconversion of rheumatoid arthritis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Assaying hematopoiesis using zebrafish

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Validating therapeutic targets through human genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Platelets: bridging hemostasis, inflammation, and immunity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Distinct routes of lineage development reshape the human blood hierarchy across ontogeny

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Transcriptional Heterogeneity and Lineage Commitment in Myeloid Progenitors

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Crosstalk between red blood cells and the immune system and its impact on atherosclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Estimating genome-wide significance for whole-genome sequencing studies

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Single-nucleotide substitution in pyruvate kinase deficiency.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Impact of red blood cells count on the relationship between high density lipoproteins and the prevalence and extent of coronary artery disease: a single centre study [corrected].

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

"Aged sample" software on automated routine hematology analyzer enables differentiation between pathological and non-pathological WBC flagging in aging samples.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Red cell distribution width, haemoglobin A1c and incidence of diabetes mellitus.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Haptoglobin 2 allele associates with unstable carotid plaque and major cardiovascular events

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Improved whole-chromosome phasing for disease and population genetic studies

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

LAD-1/variant syndrome is caused by mutations in FERMT3.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Haptoglobin genotype- and diabetes-dependent differences in iron-mediated oxidative stress in vitro and in vivo

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Haptoglobin phenotype is an independent risk factor for cardiovascular disease in individuals with diabetes: The Strong Heart Study.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5300907

Biochemical and molecular characterization of hereditary myeloperoxidase deficiency

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27863252

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Associations between differential leucocyte count and incident coronary heart disease: 1764 incident cases from seven prospective studies of 30,374 individuals

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27863252

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELL.2016.10.042

1 reference

21 August 2017

1 reference

21 August 2017

1 reference