All Outputs (3)

In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion (2016)
Journal Article
Cartwright, A., Peake, I. R., Goodeve, A. C., & Hampshire, D. J. (2016). In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion. Haemophilia, 22(5), e484-e487. https://doi.org/10.1111/hae.13059

Letter to the editor

Congenital macrothrombocytopenia is a heterogeneous disorder in India (2016)
Journal Article
Ali, S., Ghosh, K., Daly, M. E., Hampshire, D. J., Makris, M., Ghosh, M., Mukherjee, L., Bhattacharya, M., & Shetty, S. (2016). Congenital macrothrombocytopenia is a heterogeneous disorder in India. Haemophilia, 22(4), 570-582. https://doi.org/10.1111/hae.12917

Introduction: Inherited macrothrombocytopenia represents a heterogeneous group of disorders which are characterized by the presence of a reduced number of abnormally large platelets in the circulation, which may or may not be associated with a bleedi... Read More about Congenital macrothrombocytopenia is a heterogeneous disorder in India.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders (2016)
Journal Article
Simeoni, I., Stephens, J. C., Hu, F., Deevi, S. V. V., Megy, K., Bariana, T. K., Lentaigne, C., Schulman, S., Sivapalaratnam, S., Vries, M. J. A., Westbury, S. K., Greene, D., Papadia, S., Alessi, M. C., Attwood, A. P., Ballmaier, M., Baynam, G., Bermejo, E., Bertoli, M., Bray, P. F., …Turro, E. (2016). A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood, 127(23), 2791-2803. https://doi.org/10.1182/blood-2015-12-688267

Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often un... Read More about A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.