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Lista de obras de Willem H. Ouwehand

A HaemAtlas: characterizing gene expression in differentiated human blood cells

artículo científico publicado en 2009

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A coagulation defect arising from heterozygous premature termination of tissue factor

scientific article published on 14 July 2020

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

artículo científico publicado en 2016

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways.

artículo científico publicado en 2009

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

artículo científico publicado en 2016

A genome-wide association study identifies three loci associated with mean platelet volume

artículo científico publicado en 2008

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

artículo científico publicado en 2009

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

artículo científico publicado en 2016

A loss of function screen of identified genome-wide association study Loci reveals new genes controlling hematopoiesis

artículo científico publicado en 2014

A multicenter validation of recombinant β3 integrin-coupled beads to detect human platelet antigen-1 alloantibodies in 498 cases of fetomaternal alloimmune thrombocytopenia

artículo científico publicado en 2015

A mutation of the human EPHB2 gene leads to a major platelet functional defect

article

A mutation of the human gene leads to a major platelet functional defect

article

A naturally occurring LeuVal mutation in beta3-integrin impairs the HPA-1a epitope: the third allele of HPA-1.

artículo científico publicado en 2006

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

artículo científico publicado en 2007

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

artículo científico publicado en 2009

A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis

artículo científico publicado en 2015

A single-nucleotide polymorphism in the human ITGB3 gene is associated with the platelet-specific alloantigen Va (HPA-17bw) involved in fetal maternal alloimmune thrombocytopenia

artículo científico publicado en 2008

A synthesis approach of mouse studies to identify genes and proteins in arterial thrombosis and bleeding

article

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

artículo científico publicado en 2010

A tyrosine703serine polymorphism of CD109 defines the Gov platelet alloantigens

artículo científico publicado en 2002

Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data

artículo científico publicado en 2008

Allelic expression mapping across cellular lineages to establish impact of non-coding SNPs

artículo científico publicado en 2014

Alloantibodies against low-frequency human platelet antigens do not account for a significant proportion of cases of fetomaternal alloimmune thrombocytopenia: evidence from 1054 cases

artículo científico publicado en 2009

An International Reference Reagent (minimum sensitivity) for the detection of anti-human platelet antigen 1a.

artículo científico publicado en 2009

An experimentally validated network of nine haematopoietic transcription factors reveals mechanisms of cell state stability.

artículo científico publicado en 2016

Apheresis donors and platelet function: inherent platelet responsiveness influences platelet quality

scientific article published on 10 January 2008

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

artículo científico publicado en 2010

Association between walking speed and age in healthy, free-living individuals using mobile accelerometry--a cross-sectional study

artículo científico publicado en 2011

Association of variants in the fat mass and obesity associated (FTO) gene with polycystic ovary syndrome

artículo científico publicado en 2008

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

artículo científico publicado en 2007

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

artículo científico publicado en 2018

BLUEPRINT to decode the epigenetic signature written in blood.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Blood pressure loci identified with a gene-centric array

artículo científico publicado en 2011

Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts

artículo científico publicado en 2013

Cell type specific novel lncRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas

scientific article published on 23 July 2020

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource

artículo científico publicado en 2009

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

scientific article published on 01 March 2020

Chromosome contacts in activated T cells identify autoimmune disease candidate genes

artículo científico publicado en 2017

Chromosome contacts in activated T cells identify autoimmune disease candidate genes

article

Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation

artículo científico publicado en 2014

Combinatorial transcriptional control in blood stem/progenitor cells: genome-wide analysis of ten major transcriptional regulators.

artículo científico publicado en 2010

Common genetic variants do not associate with CAD in familial hypercholesterolemia

artículo científico publicado en 2013

Common genetic variation drives molecular heterogeneity in human iPSCs

artículo científico publicado en 2017

Common genetic variation drives molecular heterogeneity in human iPSCs

Common variants near MC4R are associated with fat mass, weight and risk of obesity

artículo científico publicado en 2008

Common variants near TERC are associated with mean telomere length

artículo científico publicado en 2010

Comparative analysis of neutrophil and monocyte epigenomes

Comparison of four methods to measure haemoglobin concentrations in whole blood donors (COMPARE): A diagnostic accuracy study

artículo científico publicado en 2020

Comparison of methods for competitive tests of pathway analysis

artículo científico publicado en 2012

Complex exon-intron marking by histone modifications is not determined solely by nucleosome distribution

artículo científico publicado en 2010

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

article

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

artículo científico publicado en 2012

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

artículo científico publicado en 2016

Comprehensive exploration of the effects of miRNA SNPs on monocyte gene expression

artículo científico publicado en 2012

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies

artículo científico publicado en 2008

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

artículo científico publicado en 2018

Consequences Of Natural Perturbations In The Human Plasma Proteome

article

Correction: Comprehensive Exploration of the Effects of miRNA SNPs on Monocyte Gene Expression.

artículo científico publicado en 2012

Correction: Maps of Open Chromatin Guide the Functional Follow-Up of Genome-Wide Association Signals: Application to Hematological Traits.

artículo científico publicado en 2011

Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs

artículo científico publicado en 2017

Corrigendum: Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming

artículo científico publicado en 2017

Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2015

Cross-domain inhibition of TACE ectodomain

artículo científico publicado en 2011

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

artículo científico publicado en 2019

Cutting edge: TREM-like transcript-1, a platelet immunoreceptor tyrosine-based inhibition motif encoding costimulatory immunoreceptor that enhances, rather than inhibits, calcium signaling via SHP-2

artículo científico publicado en 2004

DNA Methylation Dynamics of Human Hematopoietic Stem Cell Differentiation

artículo científico publicado en 2016

DNA methylation and body-mass index: a genome-wide analysis

artículo científico publicado en 2014

Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management

artículo científico publicado en 2016

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms

artículo científico publicado en 2006

Detection of Atherosclerotic Inflammation by 68Ga-DOTATATE PET Compared to [18F]FDG PET Imaging

artículo científico publicado en 2017

Detection of human platelet antigen-1a alloantibodies in cases of fetomaternal alloimmune thrombocytopenia using recombinant β3 integrin fragments coupled to fluorescently labeled beads

artículo científico publicado en 2010

Developing recombinant HPA-1a-specific antibodies with abrogated Fcgamma receptor binding for the treatment of fetomaternal alloimmune thrombocytopenia

artículo científico publicado en 2008

Development and validation of a universal blood donor genotyping platform: a multinational prospective study

artículo científico publicado en 2020

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

scientific article published on 01 December 2019

Dindel: accurate indel calls from short-read data

artículo científico publicado en 2010

Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems

artículo científico publicado en 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

artículo científico publicado en 2016

Dynamics of Transcription Regulation in Human Bone Marrow Myeloid Differentiation to Mature Blood Neutrophils

artículo científico publicado en 2018

Efficiency and safety of varying the frequency of whole blood donation (INTERVAL): a randomised trial of 45 000 donors

artículo científico publicado en 2017

Elucidating the chromatin architecture of loci associated with blood traits and coronary artery disease

scholarly article by D.S. Paul et al published April 2010 in New Biotechnology

Epigenetic programming of monocyte-to-macrophage differentiation and trained innate immunity.

artículo científico publicado en 2014

Epigenomic and functional dynamics of human bone marrow myeloid differentiation to mature blood neutrophils

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

artículo científico publicado en 2011

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

artículo científico publicado en 2017

Expression of a single-chain human leukocyte antigen-DRA/DRB3*01:01 molecule and differential binding of a monoclonal antibody in the presence of specifically bound human platelet antigen-1a peptide.

artículo científico publicado en 2013

F.5. Cell-specific CD25 Expression is Determined by Type 1 Diabetes Associated IL2RA Haplotypes

Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy

artículo científico publicado en 2011

Functional genomics in zebrafish permits rapid characterization of novel platelet membrane proteins

artículo científico publicado en 2008

GRID - Genomics of Rare Immune Disorders: a highly sensitive and specific diagnostic gene panel for patients with primary immunodeficiencies

article

Gain- and loss-of-function mutants confirm the importance of apical residues to the primary interaction of human glycoprotein VI with collagen

artículo científico publicado en 2005

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

artículo científico publicado en 2016

Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

artículo científico publicado en 2010

Genetic determinants of risk and survival in pulmonary arterial hypertension

article

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

artículo científico publicado en 2018

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

artículo científico publicado en 2008

Genetic evidence of assortative mating in humans

article

Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators.

artículo científico publicado en 2011

Genome-wide association analysis identifies 20 loci that influence adult height

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

artículo científico publicado en 2010

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

artículo científico publicado en 2016

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

artículo científico publicado en 2009

Genome-wide haplotype analysis of cis expression quantitative trait loci in monocytes

artículo científico publicado en 2013

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease

artículo científico publicado en 2009

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genomewide association analysis of coronary artery disease

artículo científico publicado en 2007

Genomic atlas of the human plasma proteome

artículo científico publicado en 2018

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

scientific article published on 01 December 2019

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors

artículo científico publicado en 2016

Glycoprotein V: the predominant target antigen in gold-induced autoimmune thrombocytopenia

artículo científico publicado en 2002

Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

scientific journal article

HPA-1a antibody potency and bioactivity do not predict severity of fetomaternal alloimmune thrombocytopenia

artículo científico publicado en 2007

HPA-1a phenotype-genotype discrepancy reveals a naturally occurring Arg93Gln substitution in the platelet beta 3 integrin that disrupts the HPA-1a epitope

artículo científico publicado en 2002

High-throughput elucidation of thrombus formation reveals sources of platelet function variability

artículo científico publicado en 2018

Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias

artículo científico publicado en 2012

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Identification of Tspan9 as a novel platelet tetraspanin and the collagen receptor GPVI as a component of tetraspanin microdomains

artículo científico publicado en 2009

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

artículo científico publicado en 2020

Identification of candidate genes linking systemic inflammation to atherosclerosis; results of a human in vivo LPS infusion study

artículo científico publicado en 2011

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

artículo científico publicado en 2017

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

artículo científico publicado en 2018

Identification of seven loci affecting mean telomere length and their association with disease

artículo científico publicado en 2013

Identification of the primary collagen-binding surface on human glycoprotein VI by site-directed mutagenesis and by a blocking phage antibody

artículo científico publicado en 2003

Image-based characterization of thrombus formation in time-lapse DIC microscopy

artículo científico publicado en 2012

Improving the power to detect differentially expressed genes in comparative microarray experiments by including information from self-self hybridizations.

artículo científico publicado en 2007

Increased DNA methylation variability in type 1 diabetes across three immune effector cell types.

artículo científico publicado en 2016

Information recovery from low coverage whole-genome bisulfite sequencing.

artículo científico publicado en 2016

Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome

artículo científico publicado en 2012

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

artículo científico publicado en 2018

Inherited platelet disorders: toward DNA-based diagnosis

artículo científico publicado en 2016

Inherited variation in vitamin D genes is associated with predisposition to autoimmune disease type 1 diabetes

artículo científico publicado en 2011

Inhibition of MT1-MMP activity using functional antibody fragments selected against its hemopexin domain

artículo científico publicado en 2011

Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans

artículo científico publicado en 2011

Integrin activation state determines selectivity for novel recognition sites in fibrillar collagens

artículo científico publicado en 2004

Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies

artículo científico publicado en 2012

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship

artículo científico publicado en 2008

Joint thrombus and vessel segmentation using dynamic texture likelihoods and shape prior

scientific article published on 01 January 2011

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

artículo científico publicado en 2010

Large genome-wide association study identifies three novel risk variants for restless legs syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

artículo científico publicado en 2012

Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming

artículo científico publicado en 2016

Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis

artículo científico publicado en 2015

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

artículo científico publicado en 2016

Loci influencing blood pressure identified using a cardiovascular gene-centric array

artículo científico publicado en 2013

Loci influencing blood pressure identified using a cardiovascular gene-centric array.

artículo científico publicado en 2013

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

artículo científico publicado en 2011

Longer-term efficiency and safety of increasing the frequency of whole blood donation (INTERVAL): extension study of a randomised trial of 20 757 blood donors

artículo científico publicado en 2019

Loss of function of a lupus-associated FcγRIIb polymorphism through exclusion from lipid rafts

scientific article published on 18 September 2005

Management and outcome of 200 cases of fetomaternal alloimmune thrombocytopenia

artículo científico publicado en 2007

Mapping the platelet profile for functional genomic studies and demonstration of the effect size of the GP6 locus

artículo científico publicado en 2007

Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

artículo científico publicado en 2011

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

artículo científico publicado en 2013

Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations

artículo científico publicado en 2017

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

artículo científico publicado en 2009

Microarray-based genotyping for blood groups: comparison of gene array and 5'-nuclease assay techniques with human platelet antigen as a model

artículo científico publicado en 2005

Molecular characterization of the variable domains of an alphaIIbbeta3-specific immunoglobulin M kappa platelet cold agglutinin in a follicular lymphoma patient with treatment refractory autoimmune thrombocytopenia: idiotypic overlap between alphaII

artículo científico publicado en 2007

Monoclonal platelet antigen capture assays (MAIPA) and reagents: a statement.

artículo científico publicado en 2007

Monocyte gene expression signature of patients with early onset coronary artery disease

artículo científico publicado en 2012

Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry

artículo científico publicado en 2020

Multiple loci are associated with white blood cell phenotypes

artículo científico publicado en 2011

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

artículo científico publicado en 2009

Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis

artículo científico publicado en 2014

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

artículo científico publicado en 2017

NBEAL2 is required for neutrophil and NK cell function and pathogen defense

artículo científico publicado en 2017

Nbeal2 interacts with Dock7, Sec16a, and Vac14.

artículo científico publicado en 2017

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

artículo científico publicado en 2013

New susceptibility locus for coronary artery disease on chromosome 3q22.3.

artículo científico publicado en 2009

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

scientific article published on 15 October 2019

Nomenclature of human platelet antigens ⬇️

artículo científico publicado el 1 de octubre de 2003

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

artículo científico publicado en 2014

PECAM-1 expression and activity negatively regulate multiple platelet signaling pathways.

artículo científico publicado en 2009

Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells

scientific article published on 09 November 2020

Phenotype description and response to thrombopoietin receptor agonist in -related disorder

artículo científico publicado en 2018

Platelet Genomics

Platelet alphaIIbbeta3 recombinant autoantibodies from the B-cell repertoire of a post-transfusion purpura patient

artículo científico publicado en 2002

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

artículo científico publicado en 2017

Platelet genomics and proteomics in human health and disease

artículo científico publicado en 2005

Platelet integrin alpha2 I-domain specific antibodies produced via domain specific DNA vaccination combined with variable gene phage display

artículo científico publicado en 2005

Platelet receptor interplay regulates collagen-induced thrombus formation in flowing human blood

artículo científico publicado en 2003

Platelets release novel thiol isomerase enzymes which are recruited to the cell surface following activation

artículo científico publicado en 2010

Powerful identification of cis-regulatory SNPs in human primary monocytes using allele-specific gene expression

artículo científico publicado en 2012

Production of calmodulin-tagged proteins in Drosophila Schneider S2 cells: a novel system for antigen production and phage antibody isolation

artículo científico publicado en 2006

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort

scientific article published on 17 July 2020

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

artículo científico publicado en 2011

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

artículo científico publicado en 2016

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

artículo científico publicado en 2016

Reactome - a curated knowledgebase of biological pathways: megakaryocytes and platelets

artículo científico publicado en 2012

Recombinant HPA-1a antibody therapy for treatment of fetomaternal alloimmune thrombocytopenia: proof of principle in human volunteers

artículo científico publicado en 2013

Recruitment and representativeness of blood donors in the INTERVAL randomised trial assessing varying inter-donation intervals

artículo científico publicado en 2016

Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease

scientific article published on 24 March 2008

Report on the 13th International Society of Blood Transfusion Platelet Immunology Workshop

artículo científico publicado en 2007

Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages

artículo científico publicado en 2015

SMIM1 underlies the Vel blood group and influences red blood cell traits

artículo científico publicado en 2013

SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume

artículo científico publicado en 2017

Saturation analysis for whole-genome bisulfite sequencing data

artículo científico publicado en 2016

Sensitivity of assays for the detection of HPA-1a antibodies: results of an international workshop demonstrating the impact of cation chelation from integrin αIIbβ3 on three widely used assays

artículo científico publicado en 2013

Sensitivity of the platelet immunofluorescence test (PIFT) and the MAIPA assay for the detection of platelet-reactive alloantibodies: a report on two U.K. National Platelet Workshop exercises

artículo científico publicado en 1994

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Silencing of RhoA nucleotide exchange factor, ARHGEF3, reveals its unexpected role in iron uptake

artículo científico publicado en 2011

Single domain antibodies against the collagen signalling receptor glycoprotein VI are inhibitors of collagen induced thrombus formation

artículo científico publicado en 2009

Single nucleotide polymorphisms with cis-regulatory effects on long non-coding transcripts in human primary monocytes

artículo científico publicado en 2014

Single nucleotide variants in the protein C pathway and mortality in dialysis patients

artículo científico publicado en 2014

Single-chain antibody fragments derived from a human synthetic phage-display library bind thrombospondin and inhibit sickle cell adhesion

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

artículo científico publicado en 2020

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia

artículo científico publicado en 2019

Teicoplanin-dependent antibodies: detection and characterization

artículo científico publicado en 2005

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

artículo científico publicado en 2016

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

artículo científico publicado en 2014

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

artículo científico publicado en 2014

The Polygenic and Monogenic Basis of Blood Traits and Diseases

artículo científico publicado en 2020

The effect of recombinant IgG antibodies against the leucine-33 form of the platelet beta3 integrin (HPA-1a) on platelet function

artículo científico publicado en 2004

The effect of variation in donor platelet function on transfusion outcome: a semirandomized controlled trial

artículo científico publicado en 2017

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

The influence of rare variants in circulating metabolic biomarkers

artículo científico publicado en 2020

The low-frequency allele of the platelet collagen signaling receptor glycoprotein VI is associated with reduced functional responses and expression

artículo científico publicado en 2003

The novel inhibitory receptor G6B is expressed on the surface of platelets and attenuates platelet function in vitro

artículo científico publicado en 2007

The role of haematological traits in risk of ischaemic stroke and its subtypes

artículo científico publicado en 2020

The role of meis1 in primitive and definitive hematopoiesis during zebrafish development

artículo científico publicado en 2010

Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

artículo científico publicado en 2020

Transcription factor co-localization patterns affect human cell type-specific gene expression

artículo científico publicado en 2012

Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function

artículo científico publicado en 2010

Transcriptional diversity during lineage commitment of human blood progenitors

artículo científico publicado en 2014

Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report

artículo científico publicado en 2020

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

artículo científico publicado en 2010

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Use of a novel floxed mouse to characterise the cellular source of plasma coagulation FXIII-A.

artículo científico publicado en 2015

Whole Genome Sequencing of Primary Immunodeficiency reveals a role for common and rare variants in coding and non-coding sequences

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

artículo científico publicado en 2020

Whole-genome sequencing of patients with rare diseases in a national health system

artículo científico publicado en 2020

eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data

artículo científico publicado en 2016

variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

scholarly article by Shoshana Revel-Vilk et al published 25 October 2018 in Blood

αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia

artículo científico publicado en 2015

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