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Journal of Thrombosis and Haemostasis : JTH|June 11, 2020
Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disordersFabienne Ver Donck, Kate Downes, Kathleen Freson
Haemophilia : the Official Journal of the World Federation of Hemophilia|October 23, 2020
Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and managementWill Thomas, Kate Downes, Michael J R Desborough
International Journal of Laboratory Hematology|February 1, 2020
Investigation of patients with unclassified bleeding disorder and abnormal thrombin generation for physiological coagulation inhibitors reveals multiple abnormalities and a subset of patients with increased tissue factor pathway inhibitor activityStephen MacDonald, Danielle White, Jon Langdown, et al.
Scientific Reports|October 12, 2017
Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cellsDipali Patel, Joanna Rorbach, Kate Downes, et al.
Platelets|June 18, 2019
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second familyLore De Kock, Chantal Thys, Kate Downes, et al.
International Journal of Laboratory Hematology|November 21, 2019
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 treatmentStephen MacDonald, Alfie Wright, Frederik Beuche, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|October 10, 2021
Thrombomodulin in patients with mild to moderate bleeding tendencyDino Mehic, Alexander Tolios, Stefanie Hofer, et al.
European Journal of Medical Genetics|October 1, 2025
Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysisRavi Prabhakar More, Dulika Sumathipala, Helen Dolling, et al.
Biotechniques|May 22, 2004
SNP allele frequency estimation in DNA pools and variance components analysisKate Downes, Bryan J Barratt, Pelin Akan, et al.
Blood Advances|January 14, 2025
The role of genetic sequencing in the diagnostic workup for chronic immune thrombocytopeniaNehal Joshi, Hana Lango-Allen, Kate Downes, et al.
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