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Journal Articles

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Blood (2023) 142 (24): 2055–2068.

https://doi.org/10.1182/blood.2023020118

Published: 2023

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

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Shruthi Mohan, PhD, Kristy Lee, MS, CGC, Manuel Carcao, Bhavya S Doshi, MD, Kate Downes, PhD, Geoff Kemball-Cook, PhD, Frank Leebeek, MD PhD, Jamie McCreery, MS, CGC, Connie H. Miller, PhD, Amanda B Payne, MPH,PhD, Valerie Trapp-Stamborski, PhD, Barbara A. Konkle, MD, Keith Gomez, MBBS, PhD MRCP, FRCPath

Blood (2019) 134 (Supplement_1): 5794.

https://doi.org/10.1182/blood-2019-124842

Published: 2019

Journal Articles

A Novel Lysine to Arginine Substitution at Position 301 Enhances Activity of Factor IX

Daniel Verhoef, Jonathan H. Foley, Andrew Goodale, Emma Macrae, Jenny McIntosh, PhD, Romuald Corbau, PhD, Keith Gomez, Anne Riddell, Amit C Nathwani, MD PhD

Blood (2018) 132 (Supplement 1): 3772.

https://doi.org/10.1182/blood-2018-99-112832

Published: 2018

Journal Articles

Patients with Splanchnic Vein Thrombosis Demonstrate Significantly Increased Platelet Activity

Anicee Danaee, Keith Gomez, MBBS, PhD FRCPath, Mike Laffan, MBBS, FRCP, FRCPath, PhD, David w PATCH, MBBS, FRCP, Khalid Saja, MBBS, FRCPath, Frederick Chen, MBBS, PhD FRCPath, Mallika Sekhar, MBBS, MD FRCPath, FRCP

Blood (2016) 128 (22): 1430.

https://doi.org/10.1182/blood.V128.22.1430.1430

Published: 2016

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

Use of Prothrombin Complex Concentrate (Beriplex/Octaplex) in Acquired Bleeding Disorders: A Two-Year Single Centre Experience.

Anja Drebes, Alexander Gatt, Susan Mallett, Keith Gomez, Thynn Yee, Edward Tuddenham, Pratima Chowdary

Blood (2009) 114 (22): 3160.

https://doi.org/10.1182/blood.V114.22.3160.3160

Published: 2009

Journal Articles

Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

Anne F. Riddell, Keith Gomez, Carolyn M. Millar, Gillian Mellars, Saher Gill, Simon A. Brown, Megan Sutherland, Mike A. Laffan, Thomas A. J. McKinnon

Blood (2009) 114 (16): 3489–3496.

https://doi.org/10.1182/blood-2008-10-184317

Published: 2009

Journal Articles

Characterisation of W1745C and S1783A, Two Novel Collagen Binding Defects in the A3 Domain of Von Willebrand Factor

Anne Riddell, Keith Gomez, Carolyn Millar, G. Mellars, Simon A Brown, Saher Gill, Michael Laffan, Thomas A J McKinnon

Blood (2008) 112 (11): 424.

https://doi.org/10.1182/blood.V112.11.424.424

Published: 2008

NARROW

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

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

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

A Novel Lysine to Arginine Substitution at Position 301 Enhances Activity of Factor IX

Patients with Splanchnic Vein Thrombosis Demonstrate Significantly Increased Platelet Activity

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

Use of Prothrombin Complex Concentrate (Beriplex/Octaplex) in Acquired Bleeding Disorders: A Two-Year Single Centre Experience.

Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor

Characterisation of W1745C and S1783A, Two Novel Collagen Binding Defects in the A3 Domain of Von Willebrand Factor

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American Society of Hematology

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ASH Publications

American Society of Hematology

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