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Journal Articles

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

Blood (2023) 142 (24): 2055–2068.

https://doi.org/10.1182/blood.2023020118

Published: 2023

Includes: Supplemental data

Journal Articles

How I diagnose and treat neonatal thrombocytopenia

Simon J. Stanworth, Andrew D. Mumford

Blood (2023) 141 (22): 2685–2697.

https://doi.org/10.1182/blood.2022018017

Published: 2023

Journal Articles

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

Blood (2019) 134 (23): 2082–2091.

https://doi.org/10.1182/blood.2018891192

Published: 2019

Includes: Supplemental data

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

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

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

Danai Bem, Holly Smith, Blerida Banushi, Jemima J. Burden, Ian J. White, Joanna Hanley, Nadia Jeremiah, Frédéric Rieux-Laucat, Ruth Bettels, Gema Ariceta, Andrew D. Mumford, Steven G. Thomas, Steve P. Watson, Paul Gissen

Blood (2015) 126 (2): 133–143.

https://doi.org/10.1182/blood-2014-12-614677

Published: 2015

Includes: Supplemental data

Journal Articles

Prospective Data Collection on Patients with Fibrinogen and Factor XIII Deficiencies: Prelimary Results of the PRO-RBDD Project

Blood (2014) 124 (21): 2838.

https://doi.org/10.1182/blood.V124.21.2838.2838

Published: 2014

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

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

Marie Lordkipanidzé, Gillian C. Lowe, Nicholas S. Kirkby, Melissa V. Chan, Martina H. Lundberg, Neil V. Morgan, Danai Bem, Shaista P. Nisar, Vincenzo C. Leo, Matthew L. Jones, Stuart J. Mundell, Martina E. Daly, Andrew D. Mumford, Timothy D. Warner, Steve P. Watson

Blood (2014) 123 (8): e11–e22.

https://doi.org/10.1182/blood-2013-08-520387

Published: 2014

Includes: Supplemental data

Journal Articles

Functional Variations In Genes Encoding Platelet G-Protein Coupled Receptors In Unselected and Platelet Function Disorder Populations

Jane E Norman, Matthew L Jones, Neil V Morgan, Jacqui Stockley, Martina E Daly, Stuart J Mundell, Steve P Watson, Andrew D Mumford, UK GAPP study group

Blood (2013) 122 (21): 3511.

https://doi.org/10.1182/blood.V122.21.3511.3511

Published: 2013

Journal Articles

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

Blood (2013) 121 (15): 2943–2951.

https://doi.org/10.1182/blood-2012-10-463166

Published: 2013

Includes: Supplemental data

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

Journal Articles

An intact PDZ motif is essential for correct P2Y 12 purinoceptor traffic in human platelets

Shaista Nisar, Martina E. Daly, Augusto B. Federici, Andrea Artoni, Andrew D. Mumford, Stephen P. Watson, Stuart J. Mundell

Blood (2011) 118 (20): 5641–5651.

https://doi.org/10.1182/blood-2011-02-336826

Published: 2011

Includes: Supplemental data

Journal Articles

A novel thromboxane A 2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis

Andrew D. Mumford, Ban B. Dawood, Martina E. Daly, Sherina L. Murden, Michael D. Williams, Majd B. Protty, Jennifer C. Spalton, Mark Wheatley, Stuart J. Mundell, Steve P. Watson

Blood (2010) 115 (2): 363–369.

https://doi.org/10.1182/blood-2009-08-236976

Published: 2010

Journal Articles

Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

Martina E. Daly, Ban B. Dawood, William A. Lester, Ian R. Peake, Francesco Rodeghiero, Anne C. Goodeve, Michael Makris, Jonathan T. Wilde, Andrew D. Mumford, Stephen P. Watson, Stuart J. Mundell

Blood (2009) 113 (17): 4110–4113.

https://doi.org/10.1182/blood-2008-11-190850

Published: 2009

Journal Articles

A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome

Christiane Albrecht, John H. McVey, James I. Elliott, Alessandro Sardini, Ildiko Kasza, Andrew D. Mumford, Rossi P. Naoumova, Edward G. D. Tuddenham, Katalin Szabo, Christopher F. Higgins

Blood (2005) 106 (2): 542–549.

https://doi.org/10.1182/blood-2004-05-2056

Published: 2005

NARROW

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

How I diagnose and treat neonatal thrombocytopenia

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

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

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

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

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

Prospective Data Collection on Patients with Fibrinogen and Factor XIII Deficiencies: Prelimary Results of the PRO-RBDD Project

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

Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay

Functional Variations In Genes Encoding Platelet G-Protein Coupled Receptors In Unselected and Platelet Function Disorder Populations

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

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

An intact PDZ motif is essential for correct P2Y 12 purinoceptor traffic in human platelets

A novel thromboxane A 2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis

Identification and characterization of a novel P2Y 12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study

A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome

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American Society of Hematology

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ASH Publications

American Society of Hematology

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