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Factor VII deficiency: a cause of (or risk factor for) bleeding? (2023)
Journal Article
Hampshire, D. J. (2023). Factor VII deficiency: a cause of (or risk factor for) bleeding?. British journal of haematology, 202(3), 457-458. https://doi.org/10.1111/bjh.18806

Among the rare bleeding disorders factor VII deficiency is the most common, but correlating deficiency with bleeding phenotype is challenging. In their study Lou and colleagues investigate a large cohort of unrelated factor VII deficient patients pro... Read More about Factor VII deficiency: a cause of (or risk factor for) bleeding?.

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., Budde, U., Halldén, C., Habart, D., Goudemand, J., Peake, I. R., Eikenboom, J. C. J., Goodeve, A. C., & 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., Hampshire, D. J., Gomez, K., Ludlam, C. A., & 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., Perkins, S. J., & 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.

A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation (2019)
Journal Article
Webster, S. J., Aldossary, M. A., & Hampshire, D. J. (2019). A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation. Seminars in Thrombosis and Hemostasis, 45(7), 674-684. https://doi.org/10.1055/s-0039-1692978

With the advent of large-scale next-generation sequencing initiatives, there is an increasing importance to interpret and understand the potential phenotypic influence of identified genetic variation and its significance in the human genome. Bioinfor... Read More about A bioinformatics toolkit: in silico tools and online resources for investigating genetic variation.

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance (2018)
Journal Article
Mufti, A. H., Ogiwara, K., Swystun, L. L., Eikenboom, J. C. J., Budde, U., Hopman, W. M., Halldén, C., Goudemand, J., Peake, I. R., Goodeve, A. C., Lillicrap, D., Hampshire, D. J., & on behalf of the European Group on von Willebrand disease (EU-VWD) and Zimmerman Program for the Molecular and Clinical Biology of von Willebrand disease (ZPMCB-VWD) Study Groups. (2018). The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance. Blood Advances, 2(13), 1585-1594. https://doi.org/10.1182/bloodadvances.2017011643

Plasma levels of von Willebrand factor (VWF) vary considerably in the general population and this variation has been linked to several genetic and environmental factors. Genetic factors include 2 common single nucleotide variants (SNVs) located in VW... Read More about The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.

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.

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia (2015)
Journal Article
Buitrago, L., Rendon, A., Liang, Y., Simeoni, I., Negri, A., ThromboGenomics Consortium, Filizola, M., Ouwehand, W. H., & Coller, B. S. (2015). αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. Proceedings of the National Academy of Sciences of the United States of America, 112(15), E1898-E1907. https://doi.org/10.1073/pnas.1422238112

Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents challenges. We analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and... Read More about αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia.

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort (2013)
Journal Article
Hampshire, D. J., Abuzenadah, A. M., Cartwright, A., Al-Shammari, N. S., Coyle, R. E., Eckert, M., Al-Buhairan, A. M., Messenger, S. L., Budde, U., Gürsel, T., Ingerslev, J., Peake, I. R., & Goodeve, A. C. (2013). Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort. Thrombosis and haemostasis, 110(2), 264-274. https://doi.org/10.1160/TH13-02-0135

Several cohort studies have investigated the molecular basis of von Willebrand disease (VWD); however, these have mostly focused on European and North American populations. This study aimed to investigate mutation spectrum in 26 index cases (IC) from... Read More about Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

The International Society on Thrombosis and Haematosis von Willebrand disease database: An update (2011)
Journal Article
Hampshire, D. J., & Goodeve, A. C. (2011). The International Society on Thrombosis and Haematosis von Willebrand disease database: An update. Seminars in Thrombosis and Hemostasis, 37(5), 470-479. https://doi.org/10.1055/s-0031-1281031

The online locus-specific database for von Willebrand disease (VWFdb) acts as a repository for sequence variant data and associated resources for those with an interest in the disorder. It currently holds details of 561 mutations and 217 polymorphism... Read More about The International Society on Thrombosis and Haematosis von Willebrand disease database: An update.

Effect of the VWF promoter (GT) n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions (2011)
Journal Article
Hickson, N., Hampshire, D., Castaman, G., Eikenboom, J., Rodeghiero, F., Peake, I., & Goodeve, A. (2011). Effect of the VWF promoter (GT) n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions. Journal of thrombosis and haemostasis : JTH, 9(3), 603-605. https://doi.org/10.1111/j.1538-7836.2010.04161.x