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K. Downes · SciRah

Researcher profile · Semantic Scholar

K. Downes

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K. Downes — researcher profile on SciRah

h-index: 46
Works: 125
Citations: 27K

Most-cited papers

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
U. Võsa, A. Claringbould, H. Westra, M. Bonder +104 more
2021Nature Genetics2,043 citations Open access
Semantic Scholar
Epigenetic programming during monocyte to macrophage differentiation and trained innate immunity
S. Saeed, J. Quintin, H. Kerstens, N. A. Rao +26 more
2014Science1,612 citations Open access
Semantic Scholar
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
B. Javierre, O. Burren, S. Wilder, Roman Kreuzhuber +24 more
2017918 citations
Semantic Scholar
Allelic Landscape of Human Blood Cell Trait Variation and Links
W. Astle, H. Elding, T. Jiang, D. Allen +37 more
2016732 citations
Semantic Scholar
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Lu Chen, B. Ge, F. Casale, L. Vasquez +72 more
2016Cell634 citations Open access
Semantic Scholar
Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis
U. Võsa, A. Claringbould, H. Westra, M. Bonder +96 more
2018bioRxiv512 citations Open access
Semantic Scholar
Whole-genome sequencing of patients with rare diseases in a national health system
E. Turro, W. Astle, K. Megy, S. Gräf +59 more
2020Nature502 citations Open access
Semantic Scholar
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
W. Astle, H. Elding, T. Jiang, Dave Allen +70 more
2016Cell460 citations Open access
Semantic Scholar
A mutation in the thyroid hormone receptor alpha gene.
E. Bochukova, N. Schoenmakers, M. Agostini, E. Schoenmakers +19 more
2012New England Journal of Medicine394 citations Open access
Semantic Scholar
Transcriptional diversity during lineage commitment of human blood progenitors
Lu Chen, Myrto A. Kostadima, J. Martens, Giovanni Canu +63 more
2014Science311 citations Open access
Semantic Scholar
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
J. Ellingford, J. Ahn, R. Bagnall, D. Baralle +23 more
2021Genome Medicine230 citations Open access
Semantic Scholar
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
B. Javierre, O. Burren, S. Wilder, Roman Kreuzhuber +35 more
2016Cell208 citations Open access
Semantic Scholar
Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.
K. Downes, Karyn Megy, Daniel Duarte, Minka J. A. Vries +33 more
2019Blood191 citations Open access
Semantic Scholar
Increased DNA methylation variability in type 1 diabetes across three immune effector cell types
D. Paul, A. Teschendorff, M. Dang, Robert Lowe +41 more
2016Nature Communications145 citations Open access
Semantic Scholar
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Tiziana Lorenzini, M. Fliegauf, N. Klammer, N. Frede +234 more
2020Journal of Allergy and Clinical Immunology123 citations Open access
Semantic Scholar
eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data
C. Breeze, D. Paul, J. van Dongen, L. Butcher +23 more
2016Cell Reports121 citations Open access
Semantic Scholar
Chromosome contacts in activated T cells identify autoimmune disease candidate genes
O. Burren, Arcadio Rubio García, B. Javierre, Daniel B. Rainbow +19 more
2017Genome Biology92 citations Open access
Semantic Scholar
Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data
A. Romagnoni, S. Jégou, K. van Steen, G. Wainrib +341 more
2019Scientific Reports88 citations Open access
Semantic Scholar
Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Warren A. Cheung, Xiao-Jian Shao, A. Morin, V. Siroux +29 more
2017Genome Biology79 citations Open access
Semantic Scholar
Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
K. Megy, K. Downes, Ilenia Simeoni, L. Bury +10 more
2019Journal of Thrombosis and Haemostasis77 citations Open access
Semantic Scholar
High-throughput elucidation of thrombus formation reveals sources of platelet function variability
J. P. van Geffen, S. Brouns, Joana Batista, Harriet McKinney +16 more
2018Haematologica68 citations Open access
Semantic Scholar
Mutational and phenotypic characterisation of hereditary hemorrhagic telangiectasia.
C. Shovlin, Ilenia Simeoni, K. Downes, Zoe Frazer +13 more
2020Blood67 citations Open access
Semantic Scholar
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Irina Pleines, Joanne Woods, S. Chappaz, Verity G. Kew +26 more
2017Journal of Clinical Investigation63 citations Open access
Semantic Scholar
Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems
Ronald P. Schuyler, A. Merkel, E. Raineri, L. Altucci +17 more
2016Cell Reports61 citations Open access
Semantic Scholar
Postthymic Expansion in Human CD4 Naive T Cells Defined by Expression of Functional High-Affinity IL-2 Receptors
M. Pekalski, R. Ferreira, Richard M. R. Coulson, Antony J. Cutler +16 more
2013Journal of Immunology57 citations Open access
Semantic Scholar
GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.
S. Revel-Vilk, E. Shai, E. Turro, Nivin Jahshan +16 more
2018Blood52 citations Open access
Semantic Scholar
Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells
Dipali Patel, J. Rorbach, K. Downes, Maciej Szukszto +2 more
2017Scientific Reports50 citations Open access
Semantic Scholar
Platelet function is modified by common sequence variation in megakaryocyte super enhancers
Romina Petersen, J. Lambourne, B. Javierre, Luigi Grassi +55 more
2017Nature Communications50 citations Open access
Semantic Scholar
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
Matthew C. Sims, Louisa Mayer, Janine H. Collins, T. Bariana +60 more
2020medRxiv48 citations Open access
Semantic Scholar
Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders
Fabienne Ver Donck, K. Downes, K. Freson
2020Journal of Thrombosis and Haemostasis46 citations Open access
Semantic Scholar
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
S. Westbury, M. Canault, D. Greene, E. Bermejo +17 more
2017Blood44 citations Open access
Semantic Scholar
Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and management
W. Thomas, K. Downes, M. Desborough
2020Haemophilia43 citations
Semantic Scholar
TNFR2 ligation in human T regulatory cells enhances IL2-induced cell proliferation through the non-canonical NF-κB pathway
Jun Wang, R. Ferreira, Wan-Hua Lu, Sam Farrow +6 more
2018Scientific Reports42 citations Open access
Semantic Scholar
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
S. Watt, L. Vasquez, Klaudia Walter, A. Mann +23 more
2021Nature Communications41 citations Open access
Semantic Scholar
Incorporating alternative Polygenic Risk Scores into the BOADICEA breast cancer risk prediction model
N. Mavaddat, L. Ficorella, T. Carver, Andrew Lee +21 more
2022medRxiv39 citations Open access
Semantic Scholar
Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
S. Westbury, K. Downes, C. Burney, M. Lozano +15 more
2018Blood Advances38 citations Open access
Semantic Scholar
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
L. Bury, K. Megy, J. Stephens, Luigi Grassi +33 more
2019Human Mutation37 citations Open access
Semantic Scholar
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
K. Megy, K. Downes, M. Morel-Kopp, J. Bastida +12 more
2021Journal of Thrombosis and Haemostasis36 citations Open access
Semantic Scholar
Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients
K. Downes, M. Marcovecchio, Pamela Clarke, Jason D. Cooper +9 more
2013Diabetologia34 citations Open access
Semantic Scholar
How common are single gene mutations as a cause for lacunar stroke?
R. Tan, M. Traylor, Karyn Megy, Daniel Duarte +7 more
2019Neurology33 citations Open access
Semantic Scholar
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology
P. Akbari, D. Vuckovic, L. Stefanucci, T. Jiang +28 more
2023Nature Communications32 citations Open access
Semantic Scholar
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
K. Downes, P. Borry, Katrin Ericson, K. Gomez +6 more
2020Journal of Thrombosis and Haemostasis32 citations Open access
Semantic Scholar
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
S. MacDonald, A. Wright, Frederik Beuche, K. Downes +4 more
2019International Journal of Laboratory Hematology32 citations
Semantic Scholar
Paired rRNA-depleted and polyA-selected RNA sequencing data and supporting multi-omics data from human T cells
Li Chen, Rui-rui Yang, T. Kwan, Chao Tang +11 more
2020Scientific Data28 citations Open access
Semantic Scholar
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets
Manisha Padmakumar, J. Jaeken, V. Ramaekers, L. Lagae +8 more
2019JIMD Reports27 citations Open access
Semantic Scholar
Neutrophil specific granule and NETosis defects in gray platelet syndrome.
Cathelijn E. M. Aarts, K. Downes, Arie J. Hoogendijk, Evelien G. G. Sprenkeler +17 more
2021Blood Advances24 citations Open access
Semantic Scholar
Multiparameter phenotyping of platelet reactivity for stratification of human cohorts
J. Dunster, A. Bye, N. Kriek, T. Sage +9 more
2021Blood Advances23 citations Open access
Semantic Scholar
Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.
D. Mehic, A. Tolios, S. Hofer, C. Ay +7 more
2021Blood Advances22 citations Open access
Semantic Scholar
A new pedigree with thrombomodulin‐associated coagulopathy in which delayed fibrinolysis is partially attenuated by co‐inherited TAFI deficiency
S. Westbury, C. Whyte, J. Stephens, K. Downes +10 more
2020Journal of Thrombosis and Haemostasis22 citations Open access
Semantic Scholar
Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome
Warren A. Cheung, Xiao-Jian Shao, A. Morin, V. Siroux +29 more
2017Genome Biology22 citations Open access
Semantic Scholar

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