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Rachel J Stapley

Showing results (1-10 of 6) with videos related to

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Human Mutation|September 16, 2020
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variantsIbrahim Almazni, Rachel J Stapley, Abdullah O Khan, et al.
Journal of Thrombosis and Haemostasis : JTH|October 6, 2020
Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression dataAbdullah O Khan, Rachel J Stapley, Jeremy A Pike, et al.
Journal of Thrombosis and Haemostasis : JTH|November 10, 2021
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleedingRachel J Stapley, Natalie S Poulter, Abdullah O Khan, et al.
Blood Advances|January 26, 2021
Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitmentRachel J Stapley, Christopher W Smith, Elizabeth J Haining, et al.
The Journal of Clinical Investigation|August 12, 2025
Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expressionRachel J Stapley, Xenia Sawkulycz, Gabriel Hm Da Mota Araujo, et al.
Cardiovascular Research|August 12, 2024
PITX2 deficiency leads to atrial mitochondrial dysfunctionJasmeet S Reyat, Laura C Sommerfeld, Molly O'Reilly, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Human Mutation|September 16, 2020
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variantsIbrahim Almazni, Rachel J Stapley, Abdullah O Khan, et al.
Journal of Thrombosis and Haemostasis : JTH|October 6, 2020
Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression dataAbdullah O Khan, Rachel J Stapley, Jeremy A Pike, et al.
Journal of Thrombosis and Haemostasis : JTH|November 10, 2021
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleedingRachel J Stapley, Natalie S Poulter, Abdullah O Khan, et al.
Blood Advances|January 26, 2021
Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitmentRachel J Stapley, Christopher W Smith, Elizabeth J Haining, et al.
The Journal of Clinical Investigation|August 12, 2025
Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expressionRachel J Stapley, Xenia Sawkulycz, Gabriel Hm Da Mota Araujo, et al.
Cardiovascular Research|August 12, 2024
PITX2 deficiency leads to atrial mitochondrial dysfunctionJasmeet S Reyat, Laura C Sommerfeld, Molly O'Reilly, et al.
Pageof 1