A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders Academic Article uri icon

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abstract

  • Key Points Developed a targeted sequencing platform covering 63 genes linked to heritable bleeding, thrombotic, and platelet disorders. The ThromboGenomics platform provides a sensitive genetic test to obtain molecular diagnoses in patients with a suspected etiology.

authors

  • Schulman, Sam
  • Simeoni, Ilenia
  • Stephens, Jonathan C
  • Hu, Fengyuan
  • Deevi, Sri VV
  • Megy, Karyn
  • Bariana, Tadbir K
  • Lentaigne, Claire
  • Schulman, Sol
  • Sivapalaratnam, Suthesh
  • Vries, Minka JA
  • Westbury, Sarah K
  • Greene, Daniel
  • Papadia, Sofia
  • Alessi, Marie-Christine
  • Attwood, Antony P
  • Ballmaier, Matthias
  • Baynam, Gareth
  • Bermejo, Emilse
  • Bertoli, Marta
  • Bray, Paul F
  • Bury, Loredana
  • Cattaneo, Marco
  • Collins, Peter
  • Daugherty, Louise C
  • Favier, Rémi
  • French, Deborah L
  • Furie, Bruce
  • Gattens, Michael
  • Germeshausen, Manuela
  • Ghevaert, Cedric
  • Goodeve, Anne C
  • Guerrero, Jose A
  • Hampshire, Daniel J
  • Hart, Daniel P
  • Heemskerk, Johan WM
  • Henskens, Yvonne MC
  • Hill, Marian
  • Hogg, Nancy
  • Jolley, Jennifer D
  • Kahr, Walter H
  • Kelly, Anne M
  • Kerr, Ron
  • Kostadima, Myrto
  • Kunishima, Shinji
  • Lambert, Michele P
  • Liesner, Ri
  • López, José A
  • Mapeta, Rutendo P
  • Mathias, Mary
  • Millar, Carolyn M
  • Nathwani, Amit
  • Neerman-Arbez, Marguerite
  • Nurden, Alan T
  • Nurden, Paquita
  • Othman, Maha
  • Peerlinck, Kathelijne
  • Perry, David J
  • Poudel, Pawan
  • Reitsma, Pieter
  • Rondina, Matthew T
  • Smethurst, Peter A
  • Stevenson, William
  • Szkotak, Artur
  • Tuna, Salih
  • van Geet, Christel
  • Whitehorn, Deborah
  • Wilcox, David A
  • Zhang, Bin
  • Revel-Vilk, Shoshana
  • Gresele, Paolo
  • Bellissimo, Daniel B
  • Penkett, Christopher J
  • Laffan, Michael A
  • Mumford, Andrew D
  • Rendon, Augusto
  • Gomez, Keith
  • Freson, Kathleen
  • Ouwehand, Willem H
  • Turro, Ernest

publication date

  • June 9, 2016

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