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Author Details

Kate Downes
2004
87
35
PMIDPaper TitleJournal TitlePublished Year
36737374Corrigendum 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].J Thromb Haemost2023
36444397Effectiveness and costs of a stepwise versus an all-in-one approach to diagnose mild bleeding disorders.Br J Haematol2023
37596262A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.Nat Commun2023
37647652A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk.Blood2023
37647632The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants.Blood2023
36649146Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.Cancer Epidemiol Biomarkers Prev2023
35001370Multiparameter platelet function analysis of bleeding patients with a prolonged platelet function analyser closure time.Br J Haematol2022
35388009Publisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus.Nat Commun2022
35681696Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial.Cancers (Basel)2022
35867130Detection 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.Diabetologia2022
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
33616470A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder.Platelets2022
34581777G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1.Blood Adv2022
35279219Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes.Clin Epigenetics2022
35041713Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results.PLoS One2022
35264566Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus.Nat Commun2022
34781376F11 Gene Duplication Causes Elevated FXI Plasma Levels and Is a Risk for Venous Thrombosis.Thromb Haemost2022
34474473Multiparameter phenotyping of platelet reactivity for stratification of human cohorts.Blood advances2021
33587817Transcriptional characterization of human megakaryocyte polyploidization and lineage commitment.J Thromb Haemost2021
34355501GoldVariants, 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 Haemost2021
33863903Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease.Nat Commun2021
33496751Neutrophil specific granule and NETosis defects in gray platelet syndrome.Blood Adv2021
33496735Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.Blood Adv2021
32703790Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas.Haematologica2021
34628704Thrombomodulin in patients with mild to moderate bleeding tendency.Haemophilia2021
34382329Current practice and registration patterns among United Kingdom Haemophilia Centre Doctors' Organisation centers for patients with unclassified bleeding disorders.Journal of Thrombosis and Haemostasis2021
34475573Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.Nat Genet2021
33168820Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells.Sci Data2020
31747136Characterization 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.Int J Lab Hematol2020
32311812Diagnostic work up of patients with increased bleeding tendency: Comment.Haemophilia2020
32003946Investigation 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.International Journal of Laboratory Hematology2020
31562665Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Hum Mutat2020
32150607Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.Blood Adv2020
33094877Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and management.Haemophilia2020
32693407Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Blood2020
33079472Clinical 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.J Thromb Haemost2020
32521110Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders.J Thromb Haemost2020
33075815Unravelling the disease mechanism for TSPYL1 deficiency.Hum Mol Genet2020
32573726Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.Blood2020
31240161A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.JIMD Rep2019
31719132How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.Neurology2019
30545925High-throughput elucidation of thrombus formation reveals sources of platelet function variability.Haematologica2019
30573501Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.Haematologica2019
31179617Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.J Thromb Haemost2019
31064749Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood2019
31064398Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome.Genome Biol2019
31204551De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.Platelets2019
30232087Phenotype description and response to thrombopoietin receptor agonist in <i>DIAPH1</i>-related disorder.Blood Adv2018
30171045<i>GNE</i> variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.Blood2018
30104686TNFR2 ligation in human T regulatory cells enhances IL2-induced cell proliferation through the non-canonical NF-κB pathway.Sci Rep2018
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