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Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms (2020)
Journal Article
Cartwright, A., Webster, S. J., de Jong, A., Dirven, R. J., Bloomer, L. D. S., Al-Buhairan, A. M., …Hampshire, D. J. (2020). Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms. Blood Advances, 4(13), 2979-2990. https://doi.org/10.1182/bloodadvances.2018027813

Copy number variation (CNV) is known to cause all von Willebrand disease (VWD) types, although the associated pathogenic mechanisms involved have not been extensively studied. Notably, in-frame CNV provides a unique opportunity to investigate how spe... Read More about Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.

The EAHAD blood coagulation factor VII variant database (2020)
Journal Article
Kemball-Cook, G., Giansily-Blaizot, M., Giansily‐Blaizot, M., Rallapalli, P. M., Perkins, S. J., Kemball‐Cook, G., …McVey, J. H. (2020). The EAHAD blood coagulation factor VII variant database. Human Mutation, 41(7), 1209-1219. https://doi.org/10.1002/humu.24025

Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7 ). Integration of genetic variation with functional consequences on protein function is es... Read More about The EAHAD blood coagulation factor VII variant database.

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers (2020)
Journal Article
McVey, J. H., Rallapalli, P. M., Kemball‐Cook, G., Hampshire, D. J., Giansily‐Blaizot, M., Gomez, K., …Ludlam, C. A. (2020). The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers. Haemophilia, 26(2), 306-313. https://doi.org/10.1111/hae.13947

Haemophilia published by John Wiley & Sons Ltd Introduction: Advances in genomic sequencing have facilitated the sequencing of genes associated with disorders of haemostasis. The identification of variants within genes and access to curated data in... Read More about The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.