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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

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

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

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

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

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

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

NARROW

Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia

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

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

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

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

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American Society of Hematology

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American Society of Hematology

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