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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

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

Blood (2023) 142 (22): 1895–1908.

https://doi.org/10.1182/blood.2023021100

Published: 2023

Includes: Supplemental data

Journal Articles

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

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

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

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

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

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

Blood (2019) 134 (23): 2082–2091.

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

Published: 2019

Includes: Supplemental data

Journal Articles

A synthesis approach of mouse studies to identify genes and proteins in arterial thrombosis and bleeding

Constance C. F. M. J. Baaten, Stuart Meacham, Susanne M. de Witt, Marion A. H. Feijge, David J. Adams, Jan-Willem N. Akkerman, Judith M. E. M. Cosemans, Luigi Grassi, Steve Jupe, Myrto Kostadima, Nadine J. A. Mattheij, Martin H. Prins, Ramiro Ramirez-Solis, Oliver Soehnlein, Frauke Swieringa, Christian Weber, Jacqueline K. White, Willem H. Ouwehand, Johan W. M. Heemskerk

Blood (2018) 132 (24): e35–e46.

https://doi.org/10.1182/blood-2018-02-831982

Published: 2018

Includes: Supplemental data

Journal Articles

A mutation of the human EPHB2 gene leads to a major platelet functional defect

Blood (2018) 132 (19): 2067–2077.

https://doi.org/10.1182/blood-2018-04-845644

Published: 2018

Includes: Supplemental data

Journal Articles

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Blood (2018) 132 (17): 1851–1854.

https://doi.org/10.1182/blood-2018-04-845545

Published: 2018

Includes: Supplemental data

Journal Articles

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Blood (2018) 132 (13): 1399–1412.

https://doi.org/10.1182/blood-2017-08-802769

Published: 2018

Includes: Supplemental data

Journal Articles

Nbeal2 interacts with Dock7, Sec16a, and Vac14

Louisa Mayer, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst, Luigi Grassi, Romina Petersen, Paquita Nurden, Rémi Favier, Lu Yu, Stuart Meacham, William J. Astle, Jyoti Choudhary, Wyatt W. Yue, Willem H. Ouwehand, Jose A. Guerrero

Blood (2018) 131 (9): 1000–1011.

https://doi.org/10.1182/blood-2017-08-800359

Published: 2018

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

The effect of variation in donor platelet function on transfusion outcome: a semirandomized controlled trial

Anne M. Kelly, Stephen F. Garner, Theodora Foukaneli, Thomas R. Godec, Nina Herbert, Brennan C. Kahan, Alison Deary, Lekha Bakrania, Charlotte Llewelyn, Willem H. Ouwehand, Lorna M. Williamson, Rebecca A. Cardigan

Blood (2017) 130 (2): 214–220.

https://doi.org/10.1182/blood-2017-01-759258

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

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

Inherited platelet disorders: toward DNA-based diagnosis

Claire Lentaigne, Kathleen Freson, Michael A. Laffan, Ernest Turro, Willem H. Ouwehand

Blood (2016) 127 (23): 2814–2823.

https://doi.org/10.1182/blood-2016-03-378588

Published: 2016

Includes: Supplemental data

Journal Articles

αIIbβ3 Variants Defined By Next Generation Sequencing: Implications for Predicting Variants Likely to Cause Glanzmann Thrombasthenia and Alloimmune Disorders

Claudia Lorena Buitrago, PhD#, Augusto Rendon, PhD#~, Ernest Turro, PhD, Yupu Liang, PhD, Ilenia Simeoni, PhD, Ana Negri, PhD, ThromboGenomics Consortium, Marta Filizola, PhD, Willem H. Ouwehand, MDPhDFRCPath FMedSci #, Barry S. Coller, MD#

Blood (2014) 124 (21): 4151.

https://doi.org/10.1182/blood.V124.21.4151.4151

Published: 2014

Journal Articles

The Effect of Variation in Donor Platelet Function on Transfusion Outcome: A Semi-Randomised, Double Blind, Controlled Trial (PROmPT)

Anne M Kelly, MA MB BChir MRCPCH, Stephen F Garner, MSc, Nina Herbert, SEN RGN, Thomas R Godec, BSc MSc, Brennan C Kahan, MSc, Alison J Deary, BSc MSc, Lekha Bakrania, BSc, Theodora Foukaneli, FRCPath, Charlotte A Llewelyn, BSc PhD, Willem H. Ouwehand, MDPhDFRCPath FMedSci #, Lorna W Williamson, BSc MDFRCP FRCPath, Rebecca A Cardigan, BSc PhDFRCPath

Blood (2014) 124 (21): 595.

https://doi.org/10.1182/blood.V124.21.595.595

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

NARROW

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

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

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

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

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

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

A synthesis approach of mouse studies to identify genes and proteins in arterial thrombosis and bleeding

A mutation of the human EPHB2 gene leads to a major platelet functional defect

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Nbeal2 interacts with Dock7, Sec16a, and Vac14

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

The effect of variation in donor platelet function on transfusion outcome: a semirandomized controlled trial

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

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

Inherited platelet disorders: toward DNA-based diagnosis

αIIbβ3 Variants Defined By Next Generation Sequencing: Implications for Predicting Variants Likely to Cause Glanzmann Thrombasthenia and Alloimmune Disorders

The Effect of Variation in Donor Platelet Function on Transfusion Outcome: A Semi-Randomised, Double Blind, Controlled Trial (PROmPT)

Mutations in Tropomyosin 4 Cause Macrothrombocytopenia in Mice and Humans

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American Society of Hematology

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ASH Publications

American Society of Hematology

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