Research output per year
Research output per year
- 13 results
Search results
-
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
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) -
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) -
2018
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia
Morgan, N., Johnson, B., Doke, R., Allsup, D., Astwood, E., Evans, G., Grimley, C., James, B., Myers, B., Stokley, S., Thachil, J., Wilde, J., Williams, M., Makris, M., Lowe, G., Wallis, Y. & Daly, M., 10 Oct 2018, In: Research and Practice in Thrombosis and Haemostasis. 2, 4, p. 640–652 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile259 Downloads (Pure) -
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)177 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) -
Role of the novel endoribonuclease SLFN14 and its disease causing mutations in ribosomal degradation
Morgan, N., Fletcher, S., Khan, A., Pisarev, A., Pisareva, V. & Tcherepanov, A., Jul 2018, In: RNA. 24, 7, p. 939-949Research output: Contribution to journal › Article › peer-review
Open AccessFile5 Citations (Scopus)163 Downloads (Pure) -
Significant hypo-responsiveness to GPVI and CLEC-2 agonists in pre-term and full term neonatal platelets and following immune thrombocytopenia
Hardy, A., Palma-Barqueros, V., Watson, S., Malcor, J-D., Eble, J. A., Gardiner, E., Blanco, J., Guijarro-Campillo, R., Delgado, J., Lozano, M. L., Teruel-Montoya, R., Vicente, V., Watson, S., Rivera, J. & Ferrer-Marin, F., Jun 2018, In: Journal of Thrombosis and Haemostasis. 118, 6, p. 1009-1020Research output: Contribution to journal › Article › peer-review
Open AccessFile11 Citations (Scopus)150 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) -
2016
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
UK GAPP Study Group & Harrison, P., Jun 2016, In: Haematologica. 101, p. 1170-1179Research output: Contribution to journal › Article › peer-review
Open AccessFile75 Citations (Scopus)464 Downloads (Pure) -
2015
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects
Fletcher, S. J., Johnson, B., Lowe, G. C., Bem, D., Drake, S., Lordkipanidzé, M., Guiú, I. S., Dawood, B., Rivera, J., Simpson, M. A., Daly, M. E., Motwani, J., Collins, P. W., Watson, S. P., Morgan, N. V. & UK Genotyping and Phenotyping of Platelets study group, 1 Sept 2015, In: Journal of Clinical Investigation. 125, 9, p. 3600-3605 6 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile48 Citations (Scopus)180 Downloads (Pure) -
2014
What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?
Daly, M. E., Leo, V. C., Lowe, G. C., Watson, S. P. & Morgan, N. V., Apr 2014, In: British Journal of Haematology. 165, 2, p. 193-203 11 p.Research output: Contribution to journal › Article › peer-review
18 Citations (Scopus) -
2013
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects
Stockley, J., Morgan, N. V., Bem, D., Lowe, G. C., Lordkipanidze, M., Dawood, B., Simpson, M. A., Macfarlane, K., Horner, K., Leo, V. C., Talks, K., Motwani, J., Wilde, J. T., Collins, P. W., Makris, M., Watson, S. P. & Daly, M. E., 12 Dec 2013, In: Blood. 122, 25, p. 4090-4093Research output: Contribution to journal › Article › peer-review
Open AccessFile81 Citations (Scopus)778 Downloads (Pure)