Search Results - Kate Downes

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  1. 1

    De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family by Lore De Kock, Chantal Thys, Kate Downes, Daniel Duarte, Karyn Megy, Chris Van Geet, Kathleen Freson

    Published in Platelets (2019-10-01)
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  2. 2

    SNP allele frequency estimation in DNA pools and variance components analysis by Kate Downes, Bryan J. Barratt, Pelin Akan, Sue J. Bumpstead, Stacey D. Taylor, David G. Clayton, Panos Deloukas

    Published in BioTechniques (2004-05-01)
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  3. 3

    Reduced expression of IFIH1 is protective for type 1 diabetes. by Kate Downes, Marcin Pekalski, Karen L Angus, Matthew Hardy, Sarah Nutland, Deborah J Smyth, Neil M Walker, Chris Wallace, John A Todd

    Published in PLoS ONE (2010-09-01)
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  4. 4

    A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder by Ibrahim Almazni, Pavel Chudakou, Alison Dawson-Meadows, Kate Downes, Kathleen Freson, Joanne Mason, Paula Page, Kim Reay, Bethan Myers, Neil V Morgan

    Published in Platelets (2022-02-01)
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  5. 5

    Platelet Receptor Glycoprotein VI-Dimer Is Overexpressed in Patients with Atrial Fibrillation at High Risk of Ischemic Stroke by Isuru Induruwa, Carly Kempster, Patrick Thomas, Harriet McKinney, Jean-Daniel Malcor, Arkadiusz Bonna, Joana Batista, Kenji Soejima, Willem Ouwehand, Richard W. Farndale, Kate Downes, Masaaki Moroi, Stephanie M. Jung, Elizabeth A. Warburton

    Published in TH Open (2023-10-01)
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  6. 6

    Platelet surface receptor glycoprotein VI-dimer is overexpressed in stroke: The Glycoprotein VI in Stroke (GYPSIE) study results. by Isuru Induruwa, Harriet McKinney, Carly Kempster, Patrick Thomas, Joana Batista, Jean-Daniel Malcor, Arkadiusz Bonna, Joanne McGee, Elaine Bumanlag-Amis, Karola Rehnstrom, Sophie Ashford, Kenji Soejima, Willem Ouwehand, Richard Farndale, Kate Downes, Elizabeth Warburton, Masaaki Moroi, Stephanie Jung

    Published in PLoS ONE (2022-01-01)
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  7. 7

    The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding by Matthew C. Sims, Magdalena Gierula, Jonathan C. Stephens, Alex Tokolyi, Luca Stefanucci, Elodie Persyn, Luanluan Sun, Janine H. Collins, Emma E. Davenport, Emanuele Di Angelantonio, Kate Downes, Michael Inouye, Dirk S. Paul, Will Thomas, Alexander Tolios, Willem H. Ouwehand, Nicholas S. Gleadall, James T. B. Crawley, Adam S. Butterworth, Mattia Frontini, Josefin Ahnström

    Published in Blood Advances (2025-01-01)
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  8. 8

    IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production. by Lisa M Maier, Christopher E Lowe, Jason Cooper, Kate Downes, David E Anderson, Christopher Severson, Pamela M Clark, Brian Healy, Neil Walker, Cristin Aubin, Jorge R Oksenberg, Stephen L Hauser, Alistair Compston, Stephen Sawcer, International Multiple Sclerosis Genetics Consortium, Philip L De Jager, Linda S Wicker, John A Todd, David A Hafler

    Published in PLoS Genetics (2009-01-01)
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  9. 9

    High-throughput elucidation of thrombus formation reveals sources of platelet function variability by Johanna P. van Geffen, Sanne L.N. Brouns, Joana Batista, Harriet McKinney, Carly Kempster, Magdolna Nagy, Suthesh Sivapalaratnam, Constance C.F.M.J. Baaten, Nikki Bourry, Mattia Frontini, Kerstin Jurk, Manuela Krause, Daniele Pillitteri, Frauke Swieringa, Remco Verdoold, Rachel Cavill, Marijke J. E. Kuijpers, Willem H. Ouwehand, Kate Downes, Johan W.M. Heemskerk

    Published in Haematologica (2019-06-01)
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  10. 10

    Chromosome contacts in activated T cells identify autoimmune disease candidate genes by Oliver S. Burren, Arcadio Rubio García, Biola-Maria Javierre, Daniel B. Rainbow, Jonathan Cairns, Nicholas J. Cooper, John J. Lambourne, Ellen Schofield, Xaquin Castro Dopico, Ricardo C. Ferreira, Richard Coulson, Frances Burden, Sophia P. Rowlston, Kate Downes, Steven W. Wingett, Mattia Frontini, Willem H. Ouwehand, Peter Fraser, Mikhail Spivakov, John A. Todd, Linda S. Wicker, Antony J. Cutler, Chris Wallace

    Published in Genome Biology (2017-09-01)
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  11. 11

    Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses by Rinske van Oorschot, Anna E. Marneth, Saskia M. Bergevoet, Maaike G.J.M. van Bergen, Kathelijne Peerlinck, Claire E. Lentaigne, Carolyn M. Millar, Sarah K. Westbury, Remi Favier, Wendy N. Erber, Ernest Turro, Joop H. Jansen, Willem H. Ouwehand, Harriet L. McKinney, NIHR BioResource Collaborative Group, Kate Downes, Kathleen Freson, Bert A. van der Reijden

    Published in Haematologica (2019-06-01)
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  12. 12

    Identification of a homozygous recessive variant in <i>PTGS1</i> resulting in a congenital aspirin-like defect in platelet function by Melissa V. Chan, Melissa A. Hayman, Suthesh Sivapalaratnam, Marilena Crescente, Harriet E. Allan, Matthew L. Edin, Darryl C. Zeldin, Ginger L. Milne, Jonathan Stephens, Daniel Greene, Moghees Hanif, Valerie B. O'Donnell, Liang Dong, Michael G. Malkowski, Claire Lentaigne, Katherine Wedderburn, Matthew Stubbs, Kate Downes, Willem H. Ouwehand, Ernest Turro, NIHR BioResource, Daniel P. Hart, Kathleen Freson, Michael A. Laffan, Timothy D. Warner

    Published in Haematologica (2020-04-01)
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  13. 13

    Cell type-specific novel long non-coding RNA and circular RNA in the BLUEPRINT hematopoietic transcriptomes atlas by Luigi Grassi, Osagie G. Izuogu, Natasha A.N. Jorge, Denis Seyres, Mariona Bustamante, Frances Burden, Samantha Farrow, Neda Farahi, Fergal J. Martin, Adam Frankish, Jonathan M. Mudge, Myrto Kostadima, Romina Petersen, John J. Lambourne, Sophia Rowlston, Enca Martin-Rendon, Laura Clarke, Kate Downes, Xavier Estivill, Paul Flicek, Joost H.A. Martens, Marie-Laure Yaspo, Hendrik G. Stunnenberg, Willem H. Ouwehand, Fabio Passetti, Ernest Turro, Mattia Frontini

    Published in Haematologica (2020-07-01)
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  14. 14

    Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome by Warren A. Cheung, Xiaojian Shao, Andréanne Morin, Valérie Siroux, Tony Kwan, Bing Ge, Dylan Aïssi, Lu Chen, Louella Vasquez, Fiona Allum, Frédéric Guénard, Emmanuelle Bouzigon, Marie-Michelle Simon, Elodie Boulier, Adriana Redensek, Stephen Watt, Avik Datta, Laura Clarke, Paul Flicek, Daniel Mead, Dirk S. Paul, Stephan Beck, Guillaume Bourque, Mark Lathrop, André Tchernof, Marie-Claude Vohl, Florence Demenais, Isabelle Pin, Kate Downes, Hendrick G. Stunnenberg, Nicole Soranzo, Tomi Pastinen, Elin Grundberg

    Published in Genome Biology (2019-05-01)
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  15. 15

    Publisher Correction: Elucidating mechanisms of genetic cross-disease associations at the PROCR vascular disease locus by David Stacey, Lingyan Chen, Paulina J. Stanczyk, Joanna M. M. Howson, Amy M. Mason, Stephen Burgess, Stephen MacDonald, Jonathan Langdown, Harriett McKinney, Kate Downes, Neda Farahi, James E. Peters, Saonli Basu, James S. Pankow, Weihong Tang, Nathan Pankratz, Maria Sabater-Lleal, Paul S. de Vries, Nicholas L. Smith, CHARGE Hemostasis Working Group, Amy D. Gelinas, Daniel J. Schneider, Nebojsa Janjic, Nilesh J. Samani, Shu Ye, Charlotte Summers, Edwin R. Chilvers, John Danesh, Dirk S. Paul

    Published in Nature Communications (2022-04-01)
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  16. 16

    Recommendations for clinical interpretation of variants found in non-coding regions of the genome by Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

    Published in Genome Medicine (2022-07-01)
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  17. 17

    A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology by Parsa Akbari, Dragana Vuckovic, Luca Stefanucci, Tao Jiang, Kousik Kundu, Roman Kreuzhuber, Erik L. Bao, Janine H. Collins, Kate Downes, Luigi Grassi, Jose A. Guerrero, Stephen Kaptoge, Julian C. Knight, Stuart Meacham, Jennifer Sambrook, Denis Seyres, Oliver Stegle, Jeffrey M. Verboon, Klaudia Walter, Nicholas A. Watkins, John Danesh, David J. Roberts, Emanuele Di Angelantonio, Vijay G. Sankaran, Mattia Frontini, Stephen Burgess, Taco Kuijpers, James E. Peters, Adam S. Butterworth, Willem H. Ouwehand, Nicole Soranzo, William J. Astle

    Published in Nature Communications (2023-08-01)
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