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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2021
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 AccessFile48 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)227 Downloads (Pure) -
2018
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Bastida, J. M., Lozano, M. L., Benito, R., Janusz, K., Palma-Barqueros, V., Del Rey, M., Hernández-Sánchez, J. M., Riesco, S., Bermejo, N., González-García, H., Rodriguez-Alén, A., Aguilar, C., Sevivas, T., López-Fernández, M. F., Marneth, A. E., van der Reijden, B. A., Morgan, N. V., Watson, S. P., Vicente, V., Hernández-Rivas, J. M., & 2 others, Jan 2018, In: Haematologica. 103, 1, p. 148-162 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile53 Citations (Scopus)179 Downloads (Pure) -
Investigation of the contribution of an underlying platelet defect in women with unexplained heavy menstrual bleeding
Lowe, G., Fickowska, R., Al Ghaithi, R. H. R., Maclachlan, A., Harrison, P., Lester, W., Watson, S., Myers, B., Clark, T. J. & Morgan, N., 6 Dec 2018, (E-pub ahead of print) In: Platelets.Research output: Contribution to journal › Article › peer-review
Open AccessFile3 Citations (Scopus)213 Downloads (Pure) -
2017
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function
Maclachlan, A., Watson, S., Morgan, N., Dolan, G. & Grimley, C., 2017, In: Platelets. 28, 6, p. 611-613Research output: Contribution to journal › Article › peer-review
Open AccessFile7 Citations (Scopus)156 Downloads (Pure)