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Journal Articles

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

Kate Downes, Karyn Megy, Daniel Duarte, Minka Vries, Johanna Gebhart, Stefanie Hofer, Olga Shamardina, Sri V. V. Deevi, Jonathan Stephens, Rutendo Mapeta, Salih Tuna, Namir Al Hasso, Martin W. Besser, Nichola Cooper, Louise Daugherty, Nick Gleadall, Daniel Greene, Matthias Haimel, Howard Martin, Sofia Papadia, Shoshana Revel-Vilk, Suthesh Sivapalaratnam, Emily Symington, Will Thomas, Chantal Thys, Alexander Tolios, Christopher J. Penkett, NIHR BioResource, Willem H. Ouwehand, Stephen Abbs, Michael A. Laffan, Ernest Turro, Ilenia Simeoni, Andrew D. Mumford, Yvonne M. C. Henskens, Ingrid Pabinger, Keith Gomez, Kathleen Freson
Journal: Blood
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

Clinical Trials & Observations Brief Report
Sarah K. Westbury, Matthias Canault, Daniel Greene, Emilse Bermejo, Katharine Hanlon, Michele P. Lambert, Carolyn M. Millar, Paquita Nurden, Samya G. Obaji, Shoshana Revel-Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher Watt, NIHR BioResource–Rare Diseases Consortium, Kathleen Freson, Michael A. Laffan, Willem H. Ouwehand, Marie-Christine Alessi, Ernest Turro, Andrew D. Mumford
Journal: Blood
Blood (2017) 130 (8): 1026–1030.
https://doi.org/10.1182/blood-2017-03-776773
Published: 2017
Includes: Supplemental data
Journal Articles

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

Simon Stritt, Paquita Nurden, Ernest Turro, Daniel Greene, Sjoert B. Jansen, Sarah K. Westbury, Romina Petersen, William J. Astle, Sandrine Marlin, Tadbir K. Bariana, Myrto Kostadima, Claire Lentaigne, Stephanie Maiwald, Sofia Papadia, Anne M. Kelly, Jonathan C. Stephens, Christopher J. Penkett, Sofie Ashford, Salih Tuna, Steve Austin, Tamam Bakchoul, Peter Collins, Rémi Favier, Michele P. Lambert, Mary Mathias, Carolyn M. Millar, Rutendo Mapeta, David J. Perry, Sol Schulman, Ilenia Simeoni, Chantal Thys, BRIDGE-BPD Consortium, Keith Gomez, Wendy N. Erber, Kathleen Stirrups, Augusto Rendon, John R. Bradley, Chris van Geet, F. Lucy Raymond, Michael A. Laffan, Alan T. Nurden, Bernhard Nieswandt, Sylvia Richardson, Kathleen Freson, Willem H. Ouwehand, Andrew D. Mumford
Journal: Blood
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
Journal: Blood
Blood (2016) 127 (23): 2791–2803.
https://doi.org/10.1182/blood-2015-12-688267
Published: 2016
Includes: Supplemental data