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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource; Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K. Downes K, et al. Among authors: besser mw. Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192. Blood. 2019. PMID: 31064749 Free PMC article.
Characterization of a large cohort of patients with unclassified bleeding disorder; clinical features, management of haemostatic challenges and use of global haemostatic assessment with proposed recommendations for diagnosis and treatment.
MacDonald S, Wright A, Beuche F, Downes K, Besser M, Symington E, Kelly A, Thomas W. MacDonald S, et al. Int J Lab Hematol. 2020 Apr;42(2):116-125. doi: 10.1111/ijlh.13124. Epub 2019 Nov 20. Int J Lab Hematol. 2020. PMID: 31747136 Clinical Trial.
78 results