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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
Journal: Blood
Blood (2020) 136 (Supplement 1): 34–35.
https://doi.org/10.1182/blood-2020-133987
Published: 2020
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
Journal: Blood
Blood (2019) 134 (Supplement_1): 5794.
https://doi.org/10.1182/blood-2019-124842
Published: 2019
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
Journal: Blood
Blood (2018) 132 (Supplement 1): 1156.
https://doi.org/10.1182/blood-2018-99-118958
Published: 2018