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Jonathan Stephens
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Journal Articles

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Clinical Trials & Observations
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
Journal: Blood
Blood (2020) 136 (17): 1907–1918.
https://doi.org/10.1182/blood.2019004560
Published: 2020
Includes: Supplemental data
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

Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function

Alison H. Goodall, Philippa Burns, Isabelle Salles, Iain C. Macaulay, Chris I. Jones, Diego Ardissino, Bernard de Bono, Sarah L. Bray, Hans Deckmyn, Frank Dudbridge, Desmond J. Fitzgerald, Stephen F. Garner, Arief Gusnanto, Kerstin Koch, Cordelia Langford, Marie N. O'Connor, Catherine M. Rice, Derek Stemple, Jonathan Stephens, Mieke D. Trip, Jaap-Jan Zwaginga, Nilesh J. Samani, Nicholas A. Watkins, Patricia B. Maguire, Willem H. Ouwehand, on behalf of the Bloodomics Consortium
Journal: Blood
Blood (2010) 116 (22): 4646–4656.
https://doi.org/10.1182/blood-2010-04-280925
Published: 2010
Includes: Supplemental data
Journal Articles

A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways

Chris I. Jones, Sarah Bray, Stephen F. Garner, Jonathan Stephens, Bernard de Bono, Will G. J. Angenent, David Bentley, Philippa Burns, Alison Coffey, Panos Deloukas, Mark Earthrowl, Richard W. Farndale, Marc F. Hoylaerts, Kerstin Koch, Angela Rankin, Catherine M. Rice, Jane Rogers, Nilesh J. Samani, Michael Steward, Adam Walker, Nicholas A. Watkins, Jan-Willem Akkerman, Frank Dudbridge, Alison H. Goodall, Willem H. Ouwehand
Journal: Blood
Blood (2009) 114 (7): 1405–1416.
https://doi.org/10.1182/blood-2009-02-202614
Published: 2009
Includes: Supplemental data
Journal Articles

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

Nicole Soranzo, Augusto Rendon, Christian Gieger, Chris I. Jones, Nicholas A. Watkins, Stephan Menzel, Angela Döring, Jonathan Stephens, Holger Prokisch, Wendy Erber, Simon C. Potter, Sarah L. Bray, Philippa Burns, Jennifer Jolley, Mario Falchi, Brigitte Kühnel, Jeanette Erdmann, Heribert Schunkert, Nilesh J. Samani, Thomas Illig, Stephen F. Garner, Angela Rankin, Christa Meisinger, John R. Bradley, Swee Lay Thein, Alison H. Goodall, Tim D. Spector, Panos Deloukas, Willem H. Ouwehand
Journal: Blood
Blood (2009) 113 (16): 3831–3837.
https://doi.org/10.1182/blood-2008-10-184234
Published: 2009
Includes: Supplemental data
Journal Articles

Functional Genomics of the Platelet ADP and Collagen Signalling Pathways.

Stephen F Garner, Chris I Jones, Jonathan Stephens, Sarah L Bray, Will Angenent, Philippa Burns, Richard W Farndale, Catherine Rice, Frank Dudbridge, Nick Watkins, Bernard de Bono, Panos Deloukas, Alison H Goodall, Willem Ouwehand
Journal: Blood
Blood (2008) 112 (11): 1844.
https://doi.org/10.1182/blood.V112.11.1844.1844
Published: 2008
Journal Articles

A Common Single Nucleotide Polymorphism in the Chromosome 7q22.3 Region, Which Is Frequently Deleted in Myeloid Malignancies, Is Associated with Mean Platelet Volume and Platelet Function in Healthy Individuals

Nicole Soranzo, Marloes R. Tijssen, Augusto Rendon, Christine Meisinger, Chris I. Jones, Christian Gieger, Nicholas A. Watkins, Stephan Menzel, Holger Prokisch, Jonathan Stephens, Angela Doering, Wendy N. Erber, Simon C. Potter, Philippa Burns, Jennifer Jolley, Mario Falchi, Stephen F. Garner, Angela Rankin, Swee Lay Thein, H-Erich Wichmann, Alison H. Goodall, Thomas Illig, Tim D. Spector, Panos Deloukas, Willem H. Ouwehand
Journal: Blood
Blood (2008) 112 (11): 86.
https://doi.org/10.1182/blood.V112.11.86.86
Published: 2008
Journal Articles

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the α IIb β 3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

Cedric Ghevaert, Alexandre Salsmann, Nicholas A. Watkins, Elisabeth Schaffner-Reckinger, Angela Rankin, Stephen F. Garner, Jonathan Stephens, Graham A. Smith, Najet Debili, William Vainchenker, Philip G. de Groot, James A. Huntington, Mike Laffan, Nelly Kieffer, Willem H. Ouwehand
Journal: Blood
Blood (2008) 111 (7): 3407–3414.
https://doi.org/10.1182/blood-2007-09-112615
Published: 2008
Includes: Supplemental data