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Journal Articles

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

Clinical Trials & Observations
Luca Stefanucci, Janine Collins, Matthew C. Sims, Inigo Barrio-Hernandez, Luanluan Sun, Oliver S. Burren, Livia Perfetto, Isobel Bender, Tiffany J. Callahan, Kathryn Fleming, Jose A. Guerrero, Henning Hermjakob, Maria J. Martin, James Stephenson, Kalpana Paneerselvam, Slavé Petrovski, Pablo Porras, Peter N. Robinson, Quanli Wang, Xavier Watkins, Mattia Frontini, Roman A. Laskowski, Pedro Beltrao, Emanuele Di Angelantonio, Keith Gomez, Mike Laffan, Willem H. Ouwehand, Andrew D. Mumford, Kathleen Freson, Keren Carss, Kate Downes, Nick Gleadall, Karyn Megy, Elspeth Bruford, Dragana Vuckovic
Journal: Blood
Blood (2023) 142 (24): 2055–2068.
https://doi.org/10.1182/blood.2023020118
Published: 2023
Includes: Supplemental data
Journal Articles

A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk

Hippolyte Verdier, Patrick Thomas, Joana Batista, Carly Kempster, Harriet McKinney, Nicholas Gleadall, John Danesh, Andrew Mumford, Johan W. M. Heemskerk, Willem H. Ouwehand, Kate Downes, William J. Astle, Ernest Turro
Journal: Blood
Blood (2023) 142 (22): 1895–1908.
https://doi.org/10.1182/blood.2023021100
Published: 2023
Includes: Supplemental data
Journal Articles

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

Rachel C Peck, BSc,MRCP, Sarah Westbury, MBBChir, MRCP, Lucy Fitzgibbon, Neil V Morgan, Jose Rivera, PhD, Walter H. Kahr, MDPhDFRCPC, Nihr BioResource, Karyn Megy, Kate Downes, PhD, Daniel Greene, Ernest Turro, PhD, Andrew David Mumford
Journal: Blood
Blood (2020) 136 (Supplement 1): 34–35.
https://doi.org/10.1182/blood-2020-133987
Published: 2020
Journal Articles

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Clinical Trials & Observations
Claire L. Shovlin, Ilenia Simeoni, Kate Downes, Zoe C. Frazer, Karyn Megy, Maria E. Bernabeu-Herrero, Abigail Shurr, Jennifer Brimley, Dilipkumar Patel, Loren Kell, Jonathan Stephens, Isobel G. Turbin, Micheala A. Aldred, Christopher J. Penkett, Willem H. Ouwehand, Luca Jovine, Ernest Turro
Journal: Blood
Blood (2020) 136 (17): 1907–1918.
https://doi.org/10.1182/blood.2019004560
Published: 2020
Includes: Supplemental data
Journal Articles

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Clinical Trials & Observations
Matthew C. Sims, Louisa Mayer, Janine H. Collins, Tadbir K. Bariana, Karyn Megy, Cecile Lavenu-Bombled, Denis Seyres, Laxmikanth Kollipara, Frances S. Burden, Daniel Greene, Dave Lee, Antonio Rodriguez-Romera, Marie-Christine Alessi, William J. Astle, Wadie F. Bahou, Loredana Bury, Elizabeth Chalmers, Rachael Da Silva, Erica De Candia, Sri V. V. Deevi, Samantha Farrow, Keith Gomez, Luigi Grassi, Andreas Greinacher, Paolo Gresele, Dan Hart, Marie-Françoise Hurtaud, Anne M. Kelly, Ron Kerr, Sandra Le Quellec, Thierry Leblanc, Eva B. Leinøe, Rutendo Mapeta, Harriet McKinney, Alan D. Michelson, Sara Morais, Diane Nugent, Sofia Papadia, Soo J. Park, John Pasi, Gian Marco Podda, Man-Chiu Poon, Rachel Reed, Mallika Sekhar, Hanna Shalev, Suthesh Sivapalaratnam, Orna Steinberg-Shemer, Jonathan C. Stephens, Robert C. Tait, Ernest Turro, John K. M. Wu, Barbara Zieger, NIHR BioResource, Taco W. Kuijpers, Anthony D. Whetton, Albert Sickmann, Kathleen Freson, Kate Downes, Wendy N. Erber, Mattia Frontini, Paquita Nurden, Willem H. Ouwehand, Remi Favier, Jose A. Guerrero
Journal: Blood
Blood (2020) 136 (17): 1956–1967.
https://doi.org/10.1182/blood.2019004776
Published: 2020
Includes: Supplemental data
Journal Articles

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

Kate Downes, Karyn Megy, Daniel Duarte, Minka Vries, Johanna Gebhart, Stefanie Hofer, Olga Shamardina, Sri V. V. Deevi, Jonathan Stephens, Rutendo Mapeta, Salih Tuna, Namir Al Hasso, Martin W. Besser, Nichola Cooper, Louise Daugherty, Nick Gleadall, Daniel Greene, Matthias Haimel, Howard Martin, Sofia Papadia, Shoshana Revel-Vilk, Suthesh Sivapalaratnam, Emily Symington, Will Thomas, Chantal Thys, Alexander Tolios, Christopher J. Penkett, NIHR BioResource, Willem H. Ouwehand, Stephen Abbs, Michael A. Laffan, Ernest Turro, Ilenia Simeoni, Andrew D. Mumford, Yvonne M. C. Henskens, Ingrid Pabinger, Keith Gomez, Kathleen Freson
Journal: Blood
Blood (2019) 134 (23): 2082–2091.
https://doi.org/10.1182/blood.2018891192
Published: 2019
Includes: Supplemental data
Journal Articles

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Shruthi Mohan, PhD, Kristy Lee, MS, CGC, Manuel Carcao, Bhavya S Doshi, MD, Kate Downes, PhD, Geoff Kemball-Cook, PhD, Frank Leebeek, MD PhD, Jamie McCreery, MS, CGC, Connie H. Miller, PhD, Amanda B Payne, MPH,PhD, Valerie Trapp-Stamborski, PhD, Barbara A. Konkle, MD, Keith Gomez, MBBS, PhD MRCP, FRCPath
Journal: Blood
Blood (2019) 134 (Supplement_1): 5794.
https://doi.org/10.1182/blood-2019-124842
Published: 2019
Journal Articles

Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1

Suthesh Sivapalaratnam, MD PhD, Hayman Melissa, PhD, Claire Lentaigne, BSc, MB, MRCP, Melissa Chan, PhD, Marilena Crescente, PhD, Harriet Allan, Katherine Wedderburn, Moghees Hanif, Ernest Turro, PhD, Dan P Hart, PhD MBBChir, FRCPath, FRCP, Kathleen Freson, PhD, Kate Downes, PhD, NIHR Bioresource, Willem Ouwehand, MDPhD, Michael Laffan, DM, FRCP, FRCPath, Tim Warner, PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1156.
https://doi.org/10.1182/blood-2018-99-118958
Published: 2018
Journal Articles

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Clinical Trials & Observations
Shoshana Revel-Vilk, Ela Shai, Ernest Turro, Nivin Jahshan, Esti Hi-Am, Galia Spectre, Hagit Daum, Yossef Kalish, Karina Althaus, Andreas Greinacher, Chaim Kaplinsky, Shai Izraeli, Rutendo Mapeta, Sri V. V. Deevi, Danuta Jarocha, Willem H. Ouwehand, Kate Downes, Mortimer Poncz, David Varon, Michele P. Lambert
Journal: Blood
Blood (2018) 132 (17): 1851–1854.
https://doi.org/10.1182/blood-2018-04-845545
Published: 2018
Includes: Supplemental data
Journal Articles

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

Clinical Trials & Observations Brief Report
Sarah K. Westbury, Matthias Canault, Daniel Greene, Emilse Bermejo, Katharine Hanlon, Michele P. Lambert, Carolyn M. Millar, Paquita Nurden, Samya G. Obaji, Shoshana Revel-Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher Watt, NIHR BioResource–Rare Diseases Consortium, Kathleen Freson, Michael A. Laffan, Willem H. Ouwehand, Marie-Christine Alessi, Ernest Turro, Andrew D. Mumford
Journal: Blood
Blood (2017) 130 (8): 1026–1030.
https://doi.org/10.1182/blood-2017-03-776773
Published: 2017
Includes: Supplemental data
Journal Articles

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Brief Report
Suthesh Sivapalaratnam, Sarah K. Westbury, Jonathan C. Stephens, Daniel Greene, Kate Downes, Anne M. Kelly, Claire Lentaigne, William J. Astle, Eric G. Huizinga, Paquita Nurden, Sofia Papadia, Kathelijne Peerlinck, Christopher J. Penkett, David J. Perry, Catherine Roughley, Ilenia Simeoni, Kathleen Stirrups, Daniel P. Hart, R. Campbell Tait, Andrew D. Mumford, NIHR BioResource, Michael A. Laffan, Kathleen Freson, Willem H. Ouwehand, Shinji Kunishima, Ernest Turro
Journal: Blood
Blood (2017) 129 (4): 520–524.
https://doi.org/10.1182/blood-2016-08-732248
Published: 2017
Includes: Supplemental data