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Kathleen Stirrups
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Journal Articles

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Brief Report
Suthesh Sivapalaratnam, Sarah K. Westbury, Jonathan C. Stephens, Daniel Greene, Kate Downes, Anne M. Kelly, Claire Lentaigne, William J. Astle, Eric G. Huizinga, Paquita Nurden, Sofia Papadia, Kathelijne Peerlinck, Christopher J. Penkett, David J. Perry, Catherine Roughley, Ilenia Simeoni, Kathleen Stirrups, Daniel P. Hart, R. Campbell Tait, Andrew D. Mumford, NIHR BioResource, Michael A. Laffan, Kathleen Freson, Willem H. Ouwehand, Shinji Kunishima, Ernest Turro
Journal: Blood
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

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