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 PapadiaShoshana Revel-Vilk, Suthesh Sivapalaratnam, Emily Symington, Will Thomas, Chantal Thys, Alexander Tolios, Christopher J. Penkett, 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, NIHR BioResource

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2082-2091
Number of pages10
JournalBlood
Volume134
Issue number23
DOIs
Publication statusPublished - 5 Dec 2019

Keywords

  • GENETIC DIAGNOSIS
  • INHERITED THROMBOCYTOPENIA
  • VARIANTS
  • MUTATION
  • BIOBANK
  • DYSFUNCTION

Cite this

Downes, K., Megy, K., Duarte, D., Vries, M., Gebhart, J., Hofer, S., Shamardina, O., Deevi, S. V. V., Stephens, J., Mapeta, R., Tuna, S., Al Hasso, N., Besser, M. W., Cooper, N., Daugherty, L., Gleadall, N., Greene, D., Haimel, M., Martin, H., ... NIHR BioResource (2019). Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. Blood, 134(23), 2082-2091. https://doi.org/10.1182/blood.2018891192