Research output per year
Research output per year
Search results
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2024
Comprehensive functional characterisation of a novel ANO6 variant in a new patient with Scott Syndrome
Montague, S., Price, J., Pennycott, K., Pavey, N., Slater, E., Thirlwell, I., Kemble, S., Monteiro, C., Redmond-Motteram, L., Lawson, N., Reynolds, K., Fratter, C., Bignell, P., Groenheide, A., Huskens, D., Laat, B. D., Pike, J. A., Poulter, N., Thomas, S., Lowe, G., & 3 others, 15 Mar 2024, (E-pub ahead of print) In: Journal of Thrombosis and Haemostasis.Research output: Contribution to journal › Article › peer-review
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2022
Prevalence and natural history of variants in the ANKRD26 gene: a short review and update of reported cases
Vyas, H., Alcheikh, A., Lowe, G., Stevenson, W. S., Morgan, N. & Rabbolini, D. J., 17 Nov 2022, In: Platelets. 33, 8, p. 1107-1112 6 p.Research output: Contribution to journal › Review article › peer-review
Open AccessFile104 Downloads (Pure) -
2021
Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data
UK GAPP Study Group, Jan 2021, In: Journal of Thrombosis and Haemostasis. 19, 1, p. 262-268 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Citations (Scopus)179 Downloads (Pure) -
Rare missense variants in Tropomyosin-4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects and excessive bleeding
The UK GAPP Study Group, Stapley, R., Poulter, N., Khan, A., Smith, C., Bignell, P., Fratter, C., Lester, W., Lowe, G. & Morgan, N., 10 Nov 2021, In: Journal of Thrombosis and Haemostasis. 8 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile47 Downloads (Pure) -
2020
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants
Almazni, I. A. F., Stapley, R., Khan, A. & Morgan, N., 28 Oct 2020, In: Human Mutation. 41, 11, p. 1848-1865Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus)223 Downloads (Pure) -
New insights into Glycoprotein Ibα desialylation-mediated platelet clearance
Yule, J., Morgan, N. & Poulter, N., 3 Jul 2020, In: Platelets. 31, 5, p. 621-623 3 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile167 Downloads (Pure)