1. 181 Genes Involved in Platelet Activity and Thrombosis are Overexpressed in Human CD34+ Derived Megakaryocytes Driven to High Ploidy. (6th June 2015) Authors: Choudry, Fizzah; Garcia, Sara; Downes, Kate; Kostadima, Myrto; Frontini, Mattia; Ouwehand, Willem; Martin, John; Mathur, Anthony Journal: Heart Issue: Volume 101(2015)Supplement 4 Page Start: A102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new pedigree with thrombomodulin‐associated coagulopathy in which delayed fibrinolysis is partially attenuated by co‐inherited TAFI deficiency. (23rd July 2020) Authors: Westbury, Sarah K.; Whyte, Claire S.; Stephens, Jonathan; Downes, Kate; Turro, Ernest; Claesen, Karen; Mertens, Joachim C.; Hendriks, Dirk; Latif, Anne‐Louise; Leishman, Emma J.; Mutch, Nicola J.; Tait, R. Campbell; Mumford, Andrew D. Journal: Journal of thrombosis and haemostasis Issue: Volume 18:Number 9(2020) Page Start: 2209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. Issue 1 (25th March 2019) Authors: Padmakumar, Manisha; Jaeken, Jaak; Ramaekers, Vincent; Lagae, Lieven; Greene, Daniel; Thys, Chantal; Van Geet, Chris; BioResource, NIHR; Stirrups, Kathleen; Downes, Kate; Turro, Ernest; Freson, Kathleen Journal: JIMD reports Issue: Volume 47:Issue 1(2019) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. (17th February 2022) Authors: Almazni, Ibrahim; Chudakou, Pavel; Dawson-Meadows, Alison; Downes, Kate; Freson, Kathleen; Mason, Joanne; Page, Paula; Reay, Kim; Myers, Bethan; Morgan, Neil V Journal: Platelets Issue: Volume 33:Number 2(2022) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bleeding of unknown cause and unclassified bleeding disorders; diagnosis, pathophysiology and management. Issue 6 (23rd October 2020) Authors: Thomas, Will; Downes, Kate; Desborough, Michael J. R. Journal: Haemophilia Issue: Volume 26:Issue 6(2020) Page Start: 946 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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. (20th November 2019) Authors: MacDonald, Stephen; Wright, Alfie; Beuche, Frederik; Downes, Kate; Besser, Martin; Symington, Emily; Kelly, Anne; Thomas, Will Journal: International journal of laboratory hematology Issue: Volume 42:Number 2(2020:Apr.) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH. (1st October 2020) Authors: Downes, Kate; Borry, Pascal; Ericson, Katrin; Gomez, Keith; Greinacher, Andreas; Lambert, Michele; Leinoe, Eva; Noris, Patrizia; Van Geet, Chris; Freson, Kathleen Journal: Journal of thrombosis and haemostasis Issue: Volume 18:Number 10(2020) Page Start: 2751 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH. (9th June 2019) Authors: Megy, Karyn; Downes, Kate; Simeoni, Ilenia; Bury, Loredana; Morales, Joannella; Mapeta, Rutendo; Bellissimo, Daniel B.; Bray, Paul F.; Goodeve, Anne C.; Gresele, Paolo; Lambert, Michele; Reitsma, Pieter; Ouwehand, Willem H.; Freson, Kathleen Journal: Journal of thrombosis and haemostasis Issue: Volume 17:Number 8(2019) Page Start: 1253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Current practice and registration patterns among United Kingdom Haemophilia Centre Doctors' Organisation centers for patients with unclassified bleeding disorders. (25th August 2021) Authors: Thomas, Will; Downes, Kate; Evans, Gillian; Gidley, Gillian; Lowe, Gill; MacDonald, Stephen; Obaji, Samya; O'Donnell, James S.; Palmer, Ben; Pinto, Fernando; Desborough, Michael Journal: Journal of thrombosis and haemostasis Issue: Volume 19:Number 11(2021) Page Start: 2738 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family. (3rd October 2019) Authors: De Kock, Lore; Thys, Chantal; Downes, Kate; Duarte, Daniel; Megy, Karyn; Van Geet, Chris; Freson, Kathleen Journal: Platelets Issue: Volume 30:Number 7(2019) Page Start: 931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗