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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

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

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, Remi Favier, Denis Seyres, Chantal Thys, Luigi Grassi, Sarah Mangles, Keith Sibson, Matthew Stubbs, Frances Burden, Jean-Claude Bordet, Corinne Armari-Alla, Wendy Erber, Samantha Farrow, Nicholas Gleadall, Keith Gomez, Karyn Megy, Sofia Papadia, Christopher J. Penkett, Matthew C. Sims, Luca Stefanucci, Jonathan C. Stephens, Randy J. Read, Kathleen E. Stirrups, Willem H. Ouwehand, Michael A. Laffan, NIHR BioResource, Mattia Frontini, Kathleen Freson, Ernest Turro
Journal: Blood
Blood (2019) 134 (23): 2070–2081.
https://doi.org/10.1182/blood.2019000782
Published: 2019
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

The Rare Diseases Pilot for the 100,000 Genomes Project: Findings in Known and New Genes by Analysis of 3,549 Whole Genome Sequenced Samples from Patients and Relatives with Haematological, Haemostasis and Immune Disorders

Suthesh Sivapalaratnam, MD PhD, Nihr Bioresource
Journal: Blood
Blood (2018) 132 (Supplement 1): 504.
https://doi.org/10.1182/blood-2018-99-119068
Published: 2018
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

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
Journal Articles

Whole Genome Sequencing of 10,000 Rare Disease Patients Reveals Digenic Inheritance of Blood Disorders

Ernest Turro, PhD, Nihr BioResource
Journal: Blood
Blood (2016) 128 (22): 2540.
https://doi.org/10.1182/blood.V128.22.2540.2540
Published: 2016
Journal Articles

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy

Brief Report
Kate Burley, Claire S. Whyte, Sarah K. Westbury, Mary Walker, Kathleen E. Stirrups, Ernest Turro, NIHR BioResource, Oliver G. Chapman, Christopher Reilly-Stitt, Nicola J. Mutch, Andrew D. Mumford
Journal: Blood
Blood (2016) 128 (14): 1879–1883.
https://doi.org/10.1182/blood-2016-05-716092
Published: 2016
Includes: Supplemental data