Professor Ian Peake
Clinical Medicine, School of Medicine and Population Health
Emeritus Professor of Molecular Medicine
+44 7785 247 928
Full contact details
Clinical Medicine, School of Medicine and Population Health
The Medical School
Beech Hill Road
Sheffield
S10 2RX
- Profile
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For enquiries, please contact – iicd-om-operational@sheffield.ac.uk
I joined the University in 1990 as the Sir Edward Mellanby Professor of Molecular Medicine and also hold an Honorary Consultant position with the Sheffield Teaching Hospitals NHS Foundation Trust. I have been Deputy Director of the Division of Genomic Medicine and Director of Research for Medicine.
I am currently focused on my research into inherited bleeding disorders in particular von Willebrands disease.
- Research interests
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My research interests are inherited disorders of Haemostasis and Thrombosis.
My current research interests focus on von Willebrands Disease. I was a co-applicant on an NIH funded PPG (the Zimmerman Project) with collaborators in Canada and USA. I also co-chaired the EU von Willebrands disease collaborative group which has projects continuing from the EU funded MCMDM-1VWD project which I directed.
Since 2011 I have been a coordinator of an International EU/Iran study of severe Von Willebrands Disease (3WINTERS IPS) sponsored by the a Medical research Charity in Milan Italy.
- Publications
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Show: Featured publications All publications
Featured publications
Journal articles
- Bleeding symptoms in patients diagnosed as type 3 von willebrand disease: results from 3WINTERS‐IPS, an international and collaborative cross‐sectional study. Journal of Thrombosis and Haemostasis. View this article in WRRO
- The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance. Blood Advances, 2(13), 1585-1594.
- In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion.. Haemophilia, 22(5), e484-e487. View this article in WRRO
- Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood, 127(20), 2481-2488. View this article in WRRO
- Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort. Thrombosis and Haemostasis, 110(2), 264-274. View this article in WRRO
- VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease. Blood, 121(12), 2336-2339.
- von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. Journal of Thrombosis and Haemostasis, 8(9), 1986-1993. View this article in WRRO
- Genetic testing for von Willebrand disease: the case for. Journal of Thrombosis and Haemostasis, 8(1), 13-16.
- Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood, 111(7), 3531-3539.
- Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). Journal of Thrombosis and Haemostasis, 6(5), 762-771.
- Type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis, 5(s1), 7-11.
- Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood, 109(1), 112-121.
- Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. Journal of Thrombosis and Haemostasis, 4(4), 774-782.
- A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). Journal of Thrombosis and Haemostasis, 4(4), 766-773.
Conference proceedings papers
All publications
Journal articles
- Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms. Blood Advances, 4(13), 2979-2990.
- Bleeding symptoms in patients diagnosed as type 3 von willebrand disease: results from 3WINTERS‐IPS, an international and collaborative cross‐sectional study. Journal of Thrombosis and Haemostasis. View this article in WRRO
- The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance. Blood Advances, 2(13), 1585-1594.
- In silico analysis highlights the copy number variation mechanism responsible for the historically reported VWF exon 42 deletion.. Haemophilia, 22(5), e484-e487. View this article in WRRO
- Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood, 127(20), 2481-2488. View this article in WRRO
- Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease. PLOS ONE, 10(12), e0143913-e0143913. View this article in WRRO
- Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort. Thrombosis and Haemostasis, 110(2), 264-274. View this article in WRRO
- VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease. Blood, 121(12), 2336-2339.
- Intracellular Retention, Enhanced Clearance, and Defective FVIII Binding Are Common Features of Von Willebrand Factor D'-D3 Domain Mutations in Patients with Von Willebrand Disease Type 1 From the European Mcmdm-1VWD Study. Blood, 120(21), 99-99.
- von Willebrand's disease: a report from a meeting in the Åland islands. Haemophilia, 18(s6), 1-13. View this article in WRRO
- 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, 9(3), 603-605. View this article in WRRO
- A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease. Haemophilia, 17(1), 165-166.
- Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort. Haematologica, 95(12), 2163-2165.
- Investigation of the Role of Copy Number Variation In the Pathogenesis of Type 1 Von Willebrand Disease. Blood, 116(21), 2218-2218.
- von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. Journal of Thrombosis and Haemostasis, 8(9), 1986-1993. View this article in WRRO
- Validation of a rapid test (VWF-LIA) for the quantitative determination of von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD. Thrombosis Research, 126(3), 227-231.
- Genetic testing for von Willebrand disease: the case for. Journal of Thrombosis and Haemostasis, 8(1), 13-16.
- The impact of bleeding history, von Willebrand factor and PFA-100® on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWD. British Journal of Haematology, 151(3), 245-251.
- Identification and characterization of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study. Blood, 113(17), 4110-4113.
- Expression of 14 von Willebrand factor mutations identified in patients with type.1 von Willebrand disease from the MCMDM-1VWD study. Journal of Thrombosis and Haemostasis, 7(8), 1304-1312.
- Re-evaluation of three Israeli families initially diagnosed with type 1 von Willebrand disease in light of the ISTH update on von Willebrand factor pathophysiology and classification. Haemophilia, 14(3), 621-624.
- Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood, 111(7), 3531-3539.
- Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). Journal of Thrombosis and Haemostasis, 6(5), 762-771.
- Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD). Blood, 111(10), 4979-4985.
- Type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis, 5(s1), 7-11.
- Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques. Haematologica, 92(4), 550-553.
- Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood, 109(1), 112-121.
- Impact of plasma von Willebrand factor levels in the diagnosis of type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1VWD). Journal of Thrombosis and Haemostasis, 5(4), 715-721.
- Regulation of the human protein S gene promoter by liver enriched transcription factors. British Journal of Haematology, 135(4), 538-546.
- Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. Journal of Thrombosis and Haemostasis, 4(4), 774-782.
- A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). Journal of Thrombosis and Haemostasis, 4(4), 766-773.
- A framework for genetic service provision for haemophilia and other inherited bleeding disorders. Haemophilia, 11(2), 145-163.
- The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization. Haemophilia, 10(3), 199-217.
- Management of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization. Haemophilia, 10(3), 218-231.
- Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia. British Journal of Haematology, 124(6), 843-844.
- c-FMSmutational analysis in acute myeloid leukaemia. British Journal of Haematology, 123(4), 749-750.
- Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias. British Journal of Haematology, 121(5), 775-777.
- The Molecular Basis of Hemophilia A: Genotype-Phenotype Relationships and Inhibitor Development. Seminars in Thrombosis and Hemostasis, 29(1), 023-030.
- Mutational analysis of class III receptor tyrosine kinases (C-KIT, C-FMS, FLT3) in idiopathic myelofibrosis. British Journal of Haematology, 120(3), 464-470.
- The future for clinical scientists in laboratory medicine. Clinical and Laboratory Haematology, 24(4), 197-204.
- FLT3 internal tandem duplication mutations are rare in agnogenic myeloid metaplasia. Blood, 100(1), 364-364.
- Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region. Human Molecular Genetics, 11(7), 723-731.
- A SECOND CASE OF Hb RENERT [β133(H11)Val → Ala]. Hemoglobin, 25(3), 337-340.
- Somatic Mosaicism in Hemophilia A: A Fairly Common Event. The American Journal of Human Genetics, 69(1), 75-87.
- Genomic structure of human FLT3: implications for mutational analysis. British Journal of Haematology, 113(4), 1076-1077.
- Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia. British Journal of Haematology, 113(4), 983-988.
- A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. Best Practice & Research Clinical Haematology, 14(2), 235-240.
- A Standard Nomenclature for von Willebrand Factor Gene Mutations and Polymorphisms. Thrombosis and Haemostasis, 85(05), 929-931.
- Endoplasmic Reticulum Retention and Prolonged Association of a von Willebrand's Disease-Causing von Willebrand Factor Variant with ERp57 and Calnexin. Biochemical and Biophysical Research Communications, 280(2), 448-453.
- Are aberrant BCR-ABL transcripts more common than previously thought?. British Journal of Haematology, 111(4), 1109-1111.
- FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group. British Journal of Haematology, 111(1), 190-195.
- A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. Blood, 96(2), 560-568.
- Influence of the -675 4G/5G dimorphism of the plasminogen activator inhibitor 1 promoter on thrombotic risk in patients with factor V Leiden. British Journal of Haematology, 110(1), 135-138.
- Relationship between Factor VIII Mutation Type and Inhibitor Development in a Cohort of Previously Untreated Patients Treated with Recombinant Factor VIII (Recombinate™). Thrombosis and Haemostasis, 83(06), 844-848.
- Major Structural Defects in the Antithrombin Gene in Four Families with Type I Antithrombin Deficiency. Thrombosis and Haemostasis, 83(05), 715-721.
- Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. Blood, 95(6), 2000-2007.
- Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. Blood, 95(6), 1935-1941.
- Null Alleles Are not a Common Cause of Type 1 von Willebrand Disease in the British Population. Thrombosis and Haemostasis, 82(10), 1373-1375.
- A Common Splice Site Mutation Is Shared by Two Families with Different Type 2N von Willebrand Disease Mutations. Thrombosis and Haemostasis, 82(09), 1061-1064.
- c-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia. British Journal of Haematology, 105(4), 894-900.
- A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis. British Journal of Haematology, 104(4), 915-918.
- A study of Wilson disease mutations in Britain. Human Mutation, 14(4), 304-311.
- Antithrombins Wibble and Wobble (T85M/K): Archetypal Conformational Diseases With In Vivo Latent-Transition, Thrombosis, and Heparin Activation. Blood, 92(8), 2696-2706.
- Antithrombins Wibble and Wobble (T85M/K): Archetypal Conformational Diseases With In Vivo Latent-Transition, Thrombosis, and Heparin Activation. Blood, 92(8), 2696-2706.
- Late Relapsing Childhood Lymphoblastic Leukemia. Blood, 92(7), 2334-2337.
- The molecular basis of haemophilia A. Haemophilia, 4(4), 346-349.
- A Novel Mutation in Intron K of the PROS1 Gene Causes Aberrant RNA Splicing and Is a Common Cause of Protein S Deficiency in a UK Thrombophilia Cohort. Thrombosis and Haemostasis, 79(06), 1086-1091.
- Precise Carrier Diagnosis in Families with Haemophilia A: Use of Conformation Sensitive Gel Electrophoresis for Mutation Screening and Polymorphism Analysis. Thrombosis and Haemostasis, 79(04), 723-726.
- Factor VIII Inhibitors in Mild and Moderate-severity Haemophilia A. Thrombosis and Haemostasis, 79(04), 762-766.
- Genetic services available for counselling and prenatal diagnosis of haemophilia. Haemophilia, 4(s2), 24-25.
- Co-inheritance of the 20210A Allele of the Prothrombin Gene Increases the Risk of Thrombosis in Subjects with Familial Thrombophilia. Thrombosis and Haemostasis, 78(06), 1426-1429.
- Clonal stability in late-relapsing childhood lymphoblastic leukaemia. British Journal of Haematology, 98(4), 992-994.
- BCR-ABL Transcript With an e19a2 (c3a2) Junction in Classical Chronic Myeloid Leukemia. Blood, 89(8), 3064-3064.
- HLA Class II Profile: A Weak Determinant of Factor VIII Inhibitor Development in Severe Haemophilia A. Thrombosis and Haemostasis, 77(02), 234-237.
- von Willebrand Factor/Factor VIII Binding Is not Affected by the Arg89Gln Polymorphism in von Willebrand Factor. Thrombosis and Haemostasis, 76(05), 820-821.
- P9 The molecular basis of antithrombin deficiency. Blood Coagulation & Fibrinolysis, 7(7), 734-734.
- A rapid and cost effective method for analysis of dinucleotide repeat polymorphisms in the factor VIII gene. Blood Coagulation & Fibrinolysis, 7(7), 672-677.
- Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. Blood, 88(5), 1700-1707.
- Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden. Blood, 88(5), 1700-1707.
- Characterisation of Type 2N von Willebrand Disease Using Phenotypic and Molecular Techniques. Thrombosis and Haemostasis, 75(06), 959-964.
- A novel DNA inversion causing severe hemophilia A. BLOOD, 87(8), 3255-3261.
- Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood, 86(6), 2206-2212.
- Genetic risk factors for venous thrombosis: laboratory assessment. International Journal of Laboratory Hematology, 17(3), 264-266.
- A chromogenic assay for activated protein C resistance. British Journal of Haematology, 90(4), 884-891.
- Molecular Genetics and Counselling in Haemophilia. Thrombosis and Haemostasis, 74(01), 040-044.
- The laboratory diagnosis of haemophilia: Recommendations by the Laboratory Activities Committee of the World Federation of Hemophilia. Haemophilia, 1(3), 159-164.
- A novel FVIII gene inversion which causes severe haemophilia A. Blood Coagulation & Fibrinolysis, 6(2), 155-155.
- A case of recessive type 2N von Willebrand's disease due to Arg 53 Trp substitution. American Journal of Hematology, 48(2), 140-140.
- The role of gene therapy in haemophilia. Haemophilia, 1(S1), 40-43.
- Rapid genotype analysis in type 2B von Willebrand's disease using a universal heteroduplex generator. British Journal of Haematology, 89(1), 152-156.
- A Single Base Pair Deletion in the Promoter Region of the Factor IX Gene Is Associated with Haemophilia B. Thrombosis and Haemostasis, 72(06), 799-803.
- Rapid two-stage PCR for detecting factor V G1691A mutation. The Lancet, 344(8923), 694-695.
- Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Research, 22(17), 3511-3533.
- High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. British Journal of Haematology, 88(1), 219-222.
- Peripheral mononuclear cells of haemophiliacs with chronic liver disease are infected with replicating hepatitis C virus. British Journal of Haematology, 87(1), 215-217.
- Factor VIII gene rearrangements in patients with severe haemophilia A. The Lancet, 343(8893), 329-330.
- A comparison of the allelic frequencies of ten DNA polymorphisms associated with factor VIII and factor IX genes in Thai and Western European populations. Blood Coagulation & Fibrinolysis, 5(1), 29-36.
- A Standard Nomenclature for Factor VIII and Factor IX Gene Mutations and Associated Amino Acid Alterations. Thrombosis and Haemostasis, 72(03), 475-476.
- A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an Mbol polymorphism in the von Willebrand factor pseudogene. Human Molecular Genetics, 2(12), 2159-2161.
- An MseI RFLP in the 5’flanking region of the factor IX gene: its use for haemophilia B carrier detection in Caucasian and Thai populations. British Journal of Haematology, 84(1), 101-105.
- Report of a joint WHO/WFH meeting on the control of haemophilia. Blood Coagulation & Fibrinolysis, 4(2), 313-344.
- Arthur Leslie Bloom. Thrombosis and Haemostasis, 69(03), 216-216.
- Registry of DNA Polymorphisms Within or Close to the Human Factor VIII and Factor IX Genes. Thrombosis and Haemostasis, 67(02), 277-280.
- Hemophilia in the 1990s: Principles of Management and Improved Access to Care. Seminars in Thrombosis and Hemostasis, 18(01), 1-10.
- Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Research, 19(18), 4821-4833.
- Aatll polymorphism in von Willebrand factor gene at codon 471. Nucleic Acids Research, 19(11), 3159-3159.
- Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease. Blood, 77(7), 1476-1483.
- Haemophilia in the 1990s: Report of a Joint Meeting of the World Health Organization and World Federation of Hemophilia. Vox Sanguinis, 61(3), 221-224.
- What is a polymorphism? [letter; comment]. Blood, 78(1), 250-250.
- Are aberrant BCR-ABL transcripts more common than previously thought?. British Journal of Haematology, 111(4), 1109-1111.
- FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group. British Journal of Haematology, 111(1), 190-195.
- Current Status of Gene Therapy in Haemophilia A and B. Arzneimittelforschung, 49(02), 163-165.
- Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. British Journal of Haematology, 77(4), 559-560.
- The Molecular Biology of von Willebrand's Disease. QJM: An International Journal of Medicine.
Chapters
- Laboratory Analysis of Von Willebrand Disease: Molecular Analysis, Quality in Laboratory Hemostasis and Thrombosis (pp. 204-215). John Wiley & Sons, Ltd
- Clinical, Laboratory, and Molecular Markers of Type 1 von Willebrand Disease, Von Willebrand Disease (pp. 127-136). Wiley-Blackwell
Conference proceedings papers
- Prospective Observation on the Use of Von Willebrand Factor (VWF) Concentrates in a Large Cohort of Type 3 Von Willebrand Disease (VWD): Interim (18-months) Analyses on 149 Cases Enrolled into the 3Winters-Ips Project. Blood, Vol. 132(Supplement 1) (pp 2464-2464)
- Bleeding Patterns in Type I VWD in Effect of VWF Levels: An Individual Participant Data Meta-Analysis of Three Cohorts. Blood, Vol. 132(Supplement 1) (pp 1180-1180)
- Clustering of Bleeding Symptoms in Patients Previously Diagnosed As Type 3 Von Willebrand Disease: Results from a Large Cohort of Type 3 Von Willebrand Disease (the 3Winters-Ips Project). Blood, Vol. 132(Supplement 1) (pp 2465-2465)
- Profile of Mutations Identified in the 3WINTERS-IPS Project on European & Iranian Patients with Previously Diagnosed Type 3 Von Willebrand Disease.. Blood, Vol. 132(Supplement 1) (pp 1184-1184)
- High resolution microscopic characterisation of VWF biosynthesis, storage and secretion in type 1 VWD patients with large in-frame VWF deletions. Journal of Thrombosis and Haemostasis, Vol. 13(Suppl. 2) (pp 23-23), 20 June 2015 - 25 June 2015.
- Single nucleotide variants c.2365A>G and c.2385T>C are associated with increased VWF plasma levels through an effect on mRNA half-life. Journal of Thrombosis and Haemostasis, Vol. 13(Suppl. 2) (pp 251-251), 20 June 2015 - 25 June 2015.
- Missense mutations located in the von Willebrand factor (VWF) D1 domain cause quantitative VWF deficiency through impairment of VWF packaging into storage organelles. Journal of Thrombosis and Haemostasis, Vol. 13(Suppl. 2) (pp 508-508), 20 June 2015 - 25 June 2015.
- Functional characterisation of a novel splice mutation, c.7887+2T>A, associated with type 1 von Willebrand disease. Journal of Thrombosis and Haemostasis, Vol. 13(Suppl. 2) (pp 505-505), 20 June 2015 - 25 June 2015.
- Detection of large exonic and intergenic deletions in the VWF locus of VWD patients using array comparative genomic hybridisation (ACGH). Journal of Thrombosis and Haemostasis, Vol. 13(Suppl. 2) (pp 126-126), 20 June 2015 - 25 June 2015.
- Common VWF Haplotypes in Normal African-Americans and Caucasians Recruited into the ZPMCB-VWD and Their Impact on VWF Laboratory Testing.. Blood, Vol. 110(11) (pp 714-714)
- Comparison of Phenotypic Assessment and Mutation Detection in the Diagnosis of Carrier State in Hemophilia: Identification of 10 Novel Mutations.. Blood, Vol. 104(11) (pp 4020-4020)
- Impact, Diagnosis and Treatment of von Willebrand Disease. Thrombosis and Haemostasis, Vol. 84(08) (pp 160-174)
- Assembly of Multimeric von Willebrand Factor Directs Sorting of P-Selectin. Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 20(7) (pp 1763-1768)
- A novel DNA inversion causing severe hemophilia A. Blood, Vol. 87(8) (pp 3255-3261)
Posters
- Bleeding symptoms in patients diagnosed as type 3 von willebrand disease: results from 3WINTERS‐IPS, an international and collaborative cross‐sectional study. Journal of Thrombosis and Haemostasis. View this article in WRRO
- Teaching interests
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I teach at the postgraduate level.
- Professional activities and memberships
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I was a partner of the Health and Care Professions Council (HCPC) as a Clinical Scientist, I was also Registration Assessor for HCPC and for the Association of Clinical Scientists.
I am a past President of the International Society on Thrombosis and Haemostasis (ISTH Congress Birmingham 2003) and Chair of the ISTH Council (2006-2008). I am a past Council member of the British Society for Haemostasis and Thrombosis and the European Association for Haemophilia and Allied Disorders. I was also a member of the Education Committee of the European Haematology Association until 2012.