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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

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

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

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

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

Blood (2018) 132 (Supplement 1): 1156.

https://doi.org/10.1182/blood-2018-99-118958

Published: 2018

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

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

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

Ernest Turro, PhD, Nihr BioResource

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

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

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

A Dominant Gain-of-Function Mutation in Universal Tyrosine Kinase SRC Causes Enhanced Podosome Formation in a Syndrome with Thrombocytopenia, Myelofibrosis, Bleeding and Bone Pathologies

Kathleen Freson, Ernest Turro, Willem Ouwehand, MD, PhD

Blood (2015) 126 (23): LBA-7.

https://doi.org/10.1182/blood.V126.23.LBA-7.LBA-7

Published: 2015

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

A Novel β3 Intracytoplasmic Domain Mutation Associated with Macrothrombocytopenia: Structural Analysis in Comparison with Previously Reported Cases

Paquita Nurden, MD PhD, Ernest Turro, PhD, Xavier Pillois, PhD, Daniel Greene, PhD, Willem Ouwehand, MD PhD, Alan Nurden, PhD

Blood (2014) 124 (21): 1454.

https://doi.org/10.1182/blood.V124.21.1454.1454

Published: 2014

NARROW

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

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

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

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

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

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

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

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

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

Inherited platelet disorders: toward DNA-based diagnosis

A Dominant Gain-of-Function Mutation in Universal Tyrosine Kinase SRC Causes Enhanced Podosome Formation in a Syndrome with Thrombocytopenia, Myelofibrosis, Bleeding and Bone Pathologies

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

A Novel β3 Intracytoplasmic Domain Mutation Associated with Macrothrombocytopenia: Structural Analysis in Comparison with Previously Reported Cases

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American Society of Hematology

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American Society of Hematology

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