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Luca Stefanucci
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Journal Articles

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

Clinical Trials & Observations
Luca Stefanucci, Janine Collins, Matthew C. Sims, Inigo Barrio-Hernandez, Luanluan Sun, Oliver S. Burren, Livia Perfetto, Isobel Bender, Tiffany J. Callahan, Kathryn Fleming, Jose A. Guerrero, Henning Hermjakob, Maria J. Martin, James Stephenson, Kalpana Paneerselvam, Slavé Petrovski, Pablo Porras, Peter N. Robinson, Quanli Wang, Xavier Watkins, Mattia Frontini, Roman A. Laskowski, Pedro Beltrao, Emanuele Di Angelantonio, Keith Gomez, Mike Laffan, Willem H. Ouwehand, Andrew D. Mumford, Kathleen Freson, Keren Carss, Kate Downes, Nick Gleadall, Karyn Megy, Elspeth Bruford, Dragana Vuckovic
Journal: Blood
Blood (2023) 142 (24): 2055–2068.
https://doi.org/10.1182/blood.2023020118
Published: 2023
Includes: Supplemental data
Journal Articles

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, Remi Favier, Denis Seyres, Chantal Thys, Luigi Grassi, Sarah Mangles, Keith Sibson, Matthew Stubbs, Frances Burden, Jean-Claude Bordet, Corinne Armari-Alla, Wendy Erber, Samantha Farrow, Nicholas Gleadall, Keith Gomez, Karyn Megy, Sofia Papadia, Christopher J. Penkett, Matthew C. Sims, Luca Stefanucci, Jonathan C. Stephens, Randy J. Read, Kathleen E. Stirrups, Willem H. Ouwehand, Michael A. Laffan, NIHR BioResource, Mattia Frontini, Kathleen Freson, Ernest Turro
Journal: Blood
Blood (2019) 134 (23): 2070–2081.
https://doi.org/10.1182/blood.2019000782
Published: 2019
Includes: Supplemental data