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Journal Articles

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

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

Blood (2017) 129 (4): 520–524.

https://doi.org/10.1182/blood-2016-08-732248

Published: 2017

Includes: Supplemental data

Journal Articles

Pathogenic Variants in Thrombocytopenia Genes in 119 Cases with Undiagnosed Heritable Thrombocytopenia

Sarah K Westbury, BA(Hons) BM BCh MRCP, Bridge Consortium, ThromboGenomics Consortium

Blood (2016) 128 (22): 362.

https://doi.org/10.1182/blood.V128.22.362.362

Published: 2016

Journal Articles

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy

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

Blood (2016) 128 (14): 1879–1883.

https://doi.org/10.1182/blood-2016-05-716092

Published: 2016

Includes: Supplemental data

Journal Articles

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Blood (2016) 127 (23): 2903–2914.

https://doi.org/10.1182/blood-2015-10-675629

Published: 2016

Includes: Supplemental data

Journal Articles

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Ilenia Simeoni, Jonathan C. Stephens, Fengyuan Hu, Sri V. V. Deevi, Karyn Megy, Tadbir K. Bariana, Claire Lentaigne, Sol Schulman, Suthesh Sivapalaratnam, Minka J. A. Vries, Sarah K. Westbury, Daniel Greene, Sofia Papadia, Marie-Christine Alessi, Antony P. Attwood, Matthias Ballmaier, Gareth Baynam, Emilse Bermejo, Marta Bertoli, Paul F. Bray, Loredana Bury, Marco Cattaneo, Peter Collins, Louise C. Daugherty, Rémi Favier, Deborah L. French, Bruce Furie, Michael Gattens, Manuela Germeshausen, Cedric Ghevaert, Anne C. Goodeve, Jose A. Guerrero, Daniel J. Hampshire, Daniel P. Hart, Johan W. M. Heemskerk, Yvonne M. C. Henskens, Marian Hill, Nancy Hogg, Jennifer D. Jolley, Walter H. Kahr, Anne M. Kelly, Ron Kerr, Myrto Kostadima, Shinji Kunishima, Michele P. Lambert, Ri Liesner, José A. López, Rutendo P. Mapeta, Mary Mathias, Carolyn M. Millar, Amit Nathwani, Marguerite Neerman-Arbez, Alan T. Nurden, Paquita Nurden, Maha Othman, Kathelijne Peerlinck, David J. Perry, Pawan Poudel, Pieter Reitsma, Matthew T. Rondina, Peter A. Smethurst, William Stevenson, Artur Szkotak, Salih Tuna, Christel van Geet, Deborah Whitehorn, David A. Wilcox, Bin Zhang, Shoshana Revel-Vilk, Paolo Gresele, Daniel B. Bellissimo, Christopher J. Penkett, Michael A. Laffan, Andrew D. Mumford, Augusto Rendon, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Ernest Turro

Blood (2016) 127 (23): 2791–2803.

https://doi.org/10.1182/blood-2015-12-688267

Published: 2016

Includes: Supplemental data

Journal Articles

A Novel F2RL3 Variant Predicting a Tyr157Cys Substitution in Protease-Activated Receptor 4 Is Associated with Reduced Receptor Function in Platelets

Jane E Norman, Margaret R Cunningham, Matthew L Jones, Sarah K Westbury, Mary Walker, Stuart J Mundell, Andrew D Mumford

Blood (2014) 124 (21): 4149.

https://doi.org/10.1182/blood.V124.21.4149.4149

Published: 2014

Journal Articles

Mutations in Tropomyosin 4 Cause Macrothrombocytopenia in Mice and Humans

Irina Pleines, PhD, Joanne Woods, PhD, Ernest Turro, PhD, Nicola Foad, PhD, Stephane Chappaz, PhD, Rachael M. Lane, Harriet Manning, Galina Schevzov, PhD, Sarah K Westbury, Andrew D Mumford, Remi Favier, MD, Peter Gunning, PhD, Willem H. Ouwehand, MDPhDFRCPath FMedSci #, Marloes R Tijssen, PhD, Benjamin T Kile, PhD

Blood (2014) 124 (21): 571.

https://doi.org/10.1182/blood.V124.21.571.571

Published: 2014

Journal Articles

Dysfunction of the PI3 kinase/Rap1/integrin α IIb β 3 pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia

Samantha F. Moore, Roger W. Hunter, Matthew T. Harper, Joshua S. Savage, Samreen Siddiq, Sarah K. Westbury, Alastair W. Poole, Andrew D. Mumford, Ingeborg Hers

Blood (2013) 121 (7): 1209–1219.

https://doi.org/10.1182/blood-2012-05-431288

Published: 2013

NARROW

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

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Pathogenic Variants in Thrombocytopenia Genes in 119 Cases with Undiagnosed Heritable Thrombocytopenia

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

A Novel F2RL3 Variant Predicting a Tyr157Cys Substitution in Protease-Activated Receptor 4 Is Associated with Reduced Receptor Function in Platelets

Mutations in Tropomyosin 4 Cause Macrothrombocytopenia in Mice and Humans

Dysfunction of the PI3 kinase/Rap1/integrin α IIb β 3 pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia

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American Society of Hematology

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American Society of Hematology

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