K. Downes

Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis.
20250 citationsauthor #4
Correction: Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
20250 citationsauthor #9
A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk
20236 citationsauthor #11
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
20230 citationsauthor #139
Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617].
20230 citationsauthor #2
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
20239 citationsauthor #31
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology
202321 citationsauthor #9
Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results
202216 citationsauthor #15
Detection of enterovirus RNA in peripheral blood mononuclear cells correlates with the presence of the predisposing allele of the type 1 diabetes risk gene IFIH1 and with disease stage
202210 citationsauthor #7
Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time
20227 citationsauthor #10
Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus
202214 citationsauthor #10
Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial
202212 citationsauthor #10
Publisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus
20220 citationsauthor #10
Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus
20220 citationsauthor #10
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model
202235 citationsauthor #9
Effectiveness and costs of a stepwise versus an all‐in‐one approach to diagnose mild bleeding disorders
20222 citationsauthor #8
Publisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus
20221 citationsauthor #10
Thrombomodulin in patients with mild to moderate bleeding tendency
20217 citationsauthor #6
F11 Gene Duplication Causes Elevated FXI Plasma Levels and Is a Risk for Venous Thrombosis
20213 citationsauthor #5
Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.
202117 citationsauthor #8
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
202137 citationsauthor #21
Multiparameter phenotyping of platelet reactivity for stratification of human cohorts
202119 citationsauthor #11
G protein–coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1
20218 citationsauthor #1
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
20211,605 citationsauthor #99
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
202131 citationsauthor #2
Current practice and registration patterns among United Kingdom Haemophilia Centre Doctors’ Organisation centers for patients with unclassified bleeding disorders
20218 citationsauthor #2
A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder
20216 citationsauthor #4
Transcriptional characterization of human megakaryocyte polyploidization and lineage commitment
202116 citationsauthor #10
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
2021187 citationsauthor #7
Neutrophil specific granule and NETosis defects in gray platelet syndrome.
202123 citationsauthor #2
Unravelling the disease mechanism for TSPYL1 deficiency.
20203 citationsauthor #7
Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia
20201 citationsauthor #9
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
20208 citationsauthor #18
Investigation of patients with unclassified bleeding disorder and abnormal thrombin generation for physiological coagulation inhibitors reveals multiple abnormalities and a subset of patients with increased tissue factor pathway inhibitor activity
202016 citationsauthor #4
NIHR BioResource (2020). Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia. Blood Advances , 4 (5), 920-924.
20200 citationsauthor #8
Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells
20201 citationsauthor #9
Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.
202017 citationsauthor #8
Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference
20207 citationsauthor #9
Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas
202017 citationsauthor #18
Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders
202041 citationsauthor #2
Whole-genome sequencing of patients with rare diseases in a national health system
2020470 citationsauthor #14
Elucidating mechanisms of genetic cross-disease associations: an integrative approach implicates protein C as a causal pathway in arterial and venous diseases
20204 citationsauthor #9
Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia.
202060 citationsauthor #3
Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells
202027 citationsauthor #9
Single cell transcriptional characterization of human megakaryocyte lineage commitment and maturation
20202 citationsauthor #10
Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes
20207 citationsauthor #30
Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH
202027 citationsauthor #1
Extreme phenotypes define epigenetic and metabolic signatures in cardiometabolic syndrome
20206 citationsauthor #29
A new pedigree with thrombomodulin‐associated coagulopathy in which delayed fibrinolysis is partially attenuated by co‐inherited TAFI deficiency
202020 citationsauthor #4
Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
2020102 citationsauthor #113
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort
20203 citationsauthor #179
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
202042 citationsauthor #57
Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and management
202033 citationsauthor #2
Diagnostic work up of patients with increased bleeding tendency: Comment
20200 citationsauthor #4
Variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility
20191 citationsauthor #21
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets
201924 citationsauthor #10
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
201936 citationsauthor #15
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
201982 citationsauthor #139
Cell type specific novel lincRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas
20199 citationsauthor #18
Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.
2019171 citationsauthor #1
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses
201911 citationsauthor #15
Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
201965 citationsauthor #2
proplatelet formation causing thrombocytopenia Sphingolipid dysregulation due to lack of functional KDSR impairs Version 3 HAEMATOL / 2018 / 204784
20190 citationsauthor #56
How common are single gene mutations as a cause for lacunar stroke?
201933 citationsauthor #10
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family
201911 citationsauthor #3
Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes
20191 citationsauthor #5
Characterization of a large cohort of patients with unclassified bleeding disorder; clinical features, management of haemostatic challenges and use of global haemostatic assessment with proposed recommendations for diagnosis and treatment
201928 citationsauthor #4
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
201836 citationsauthor #2
GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
201850 citationsauthor #17
Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis
2018506 citationsauthor #92
Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations
201886 citationsauthor #202
High-throughput elucidation of thrombus formation reveals sources of platelet function variability
201863 citationsauthor #19
DNA methylation oscillation defines classes of enhancers
20183 citationsauthor #7
NIHR BioResource (2019). Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses. Haematologica , 104 (6), e260-e264.
20180 citationsauthor #16
TNFR2 ligation in human T regulatory cells enhances IL2-induced cell proliferation through the non-canonical NF-κB pathway
201836 citationsauthor #5
Whole genome sequencing of a sporadic primary immunodeficiency cohort
2018173 citationsauthor #179
Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1
20182 citationsauthor #12
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
2017927 citationsauthor #15
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
201742 citationsauthor #12
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
201774 citationsauthor #29
Platelet function is modified by common sequence variation in megakaryocyte super enhancers
201750 citationsauthor #57
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
201723 citationsauthor #29
Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells
201745 citationsauthor #3
Comparative analysis of neutrophil and monocyte epigenomes
20173 citationsauthor #3
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
201759 citationsauthor #14
Chromosome contacts in activated T cells identify autoimmune disease candidate genes
201791 citationsauthor #14
Cell Reports Resource Distinct Trends of DNAMethylation Patterning in the Innate and Adaptive Immune Systems
20170 citationsauthor #11
Chromosome contacts in activated T cells identify autoimmune disease candidate genes
20170 citationsauthor #14
Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types
2016109 citationsauthor #17
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
2016112 citationsauthor #11
Resource Distinct Trends of DNAMe thylation Patterning in the Innate and Adaptive Immune Systems Graphical Abstract Highlights
20160 citationsauthor #11
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
201652 citationsauthor #15
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
2016350 citationsauthor #13
Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems
201661 citationsauthor #11
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
2016607 citationsauthor #74
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types
2016139 citationsauthor #18
Allelic Landscape of Human Blood Cell Trait Variation and Links
2016801 citationsauthor #13
181 Genes Involved in Platelet Activity and Thrombosis are Overexpressed in Human CD34+ Derived Megakaryocytes Driven to High Ploidy
20150 citationsauthor #3
ANALYSIS OF NEW GFI1B VARIANTS IN PATIENTS WITH INHERITED BLEEDING AND PLATELET DISORDERS
20152 citationsauthor #11
Transcriptional diversity during lineage commitment of human blood progenitors
2014306 citationsauthor #7

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