Search results
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2026
Scott syndrome with novel compound heterozygous pathogenic variants in ANO6 and reduced thrombin generation
Ahmed, A., Montague, S. J., Vyas, H., Mistry, J., Pavey, N. J., Smith, S. R. M., Griffith, L., Clothier, I., Hudson, R., Faulkner, E., Buka, R., Bignell, P., Fratter, C., Marshall, K., Bailiff, B., Poulter, N. S., de Laat, B., Huskens, D., Lowe, G. C. & Thomas, S. G. & 1 others, , 26 Feb 2026, (E-pub ahead of print) In: Haematologica.Research output: Contribution to journal › Letter › peer-review
Open Access -
2025
Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression
Stapley, R. J., Sawkulycz, X., Da Mota Araujo, G. H. M., Englert, M., Garcia-Quintanilla, L., Smith, S. R. M., Ahmed, A., Haining, E. J., Kaur, N., Bacon, A., Pisarev, A. V., Poulter, N. S., Kavanagh, D. P. J., Thomas, S. G., Montague, S. J., Rayes, J., Nagy, Z. & Morgan, N. V., 12 Aug 2025, (E-pub ahead of print) In: Journal of Clinical Investigation.Research output: Contribution to journal › Article › peer-review
Open Access -
The diagnostic utility of genetic testing in inherited thrombocytopenia: regional multicenter tertiary experience
Hassan, E., Fratter, C., Lester, W., Percy, C., Saad, W., Alkhedir, A., Motwani, J., Bagnell, P., Nicolson, P. L. R., Morgan, N. V., Potluri, S. & Lowe, G., 24 Apr 2025, In: Research and Practice in Thrombosis and Haemostasis. 9, 3, 5 p., 102869.Research output: Contribution to journal › Letter › peer-review
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