A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia

Johnson, Ben; Doak, Rachel; Allsup, David; Astwood, Emma; Evans, Gillian; Grimley, Charlotte; James, Beki; Myers, Bethan; Stokley, Simone; Thachil, Jecko; Wilde, Jonathan; Williams, Mike; Makris, Mike; Lowe, Gillian C.; Wallis, Yvonne; Daly, Martina E.; Morgan, Neil V.; the UK GAPP Study Group

doi:10.1002/rth2.12151

All Outputs (2)

Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology (2018)
Journal Article
Went, M., Sud, A., Speedy, H., Sunter, N. J., Försti, A., Law, P. J., Johnson, D. C., Mirabella, F., Holroyd, A., Li, N., Orlando, G., Weinhold, N., van Duin, M., Chen, B., Mitchell, J. S., Mansouri, L., Juliusson, G., Smedby, K. E., Jayne, S., Majid, A., …Houlston, R. S. (2019). Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology. Blood Cancer Journal, 9(1), Article 1. https://doi.org/10.1038/s41408-018-0162-8

© 2018, The Author(s). The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma (MM) a... Read More about Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.

A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia (2018)
Journal Article
Johnson, B., Doak, 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. C., Wallis, Y., Daly, M. E., Morgan, N. V., & the UK GAPP Study Group. (2018). A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia. Research and Practice in Thrombosis and Haemostasis, 2(4), 640-652. https://doi.org/10.1002/rth2.12151

Background: Inherited thrombocytopenias (ITs) are a heterogeneous group of disorders characterized by low platelet counts and often disproportionate bleeding with over 30 genes currently implicated. Previously the UK-GAPP study using whole exome sequ... Read More about A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.