Inherited thrombocytopenia: update on genes and genetic variants which may be associated with bleeding I Almazni, R Stapley, NV Morgan Frontiers in cardiovascular medicine 6, 80, 2019 | 58 | 2019 |
Post-translational polymodification of b1-tubulin regulates motor protein localization in platelet production and function AO Khan, A Slater, A Maclachlan, PLR Nicolson, JA Pike, JS Reyat, ... Haematologica 107 (1), 243, 2020 | 27 | 2020 |
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants I Almazni, RJ Stapley, AO Khan, NV Morgan Human Mutation 41 (11), 1848-1865, 2020 | 21 | 2020 |
SLFN14 gene mutations associated with bleeding RJ Stapley, VP Pisareva, AV Pisarev, NV Morgan Platelets 31 (3), 407-410, 2020 | 15 | 2020 |
Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitment RJ Stapley, CW Smith, EJ Haining, A Bacon, S Lax, VP Pisareva, ... Blood Advances 5 (2), 377-390, 2021 | 12 | 2021 |
Novel gene variants in patients with platelet‐based bleeding using combined exome sequencing and RNAseq murine expression data AO Khan, RJ Stapley, JA Pike, SN Wijesinghe, JS Reyat, I Almazni, ... Journal of Thrombosis and Haemostasis 19 (1), 262-268, 2021 | 7 | 2021 |
Rare missense variants in Tropomyosin‐4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding RJ Stapley, NS Poulter, AO Khan, CW Smith, P Bignell, C Fratter, ... Journal of Thrombosis and Haemostasis 20 (2), 478-485, 2022 | 5 | 2022 |
PITX2 deficiency leads to atrial mitochondrial dysfunction JS Reyat, LC Sommerfeld, M O’Reilly, V Roth Cardoso, E Thiemann, ... Cardiovascular Research 120 (15), 1907-1923, 2024 | 3 | 2024 |
Investigating the role of SLFN14 mutations in inherited thrombocytopenia and haematopoiesis RJ Stapley University of Birmingham, 2021 | | 2021 |