Andrew D Mumford

Andrew D Mumford

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Andrew D Mumford

Andrew D Mumford

Publications by authors named "Andrew D Mumford"

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Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders.

Semin Thromb Hemost 2019 Oct 30;45(7):685-694. Epub 2019 Apr 30.

School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom.

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http://dx.doi.org/10.1055/s-0039-1687888DOI Listing
October 2019

TUBB1 variants and human platelet traits.

Platelets 2018 03 15;29(2):209-211. Epub 2018 Jan 15.

b School of Cellular and Molecular Medicine , University of Bristol , Bristol , UK.

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http://dx.doi.org/10.1080/09537104.2017.1411587DOI Listing
March 2018

Near-patient coagulation testing to predict bleeding after cardiac surgery: a cohort study.

Res Pract Thromb Haemost 2017 Oct 25;1(2):242-251. Epub 2017 Jul 25.

Department of Clinical Sciences University of Leicester Leicester UK.

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http://dx.doi.org/10.1002/rth2.12024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992888PMC
October 2017

ACTN1 variants associated with thrombocytopenia.

Platelets 2017 09 31;28(6):625-627. Epub 2017 Aug 31.

c School of Cellular and Molecular Medicine, University of Bristol , Bristol , UK.

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http://dx.doi.org/10.1080/09537104.2017.1356455DOI Listing
September 2017

Guidelines for the use of platelet transfusions.

Br J Haematol 2017 02 23;176(3):365-394. Epub 2016 Dec 23.

NHSBT, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1111/bjh.14423DOI Listing
February 2017

A multicentre randomised controlled trial of Transfusion Indication Threshold Reduction on transfusion rates, morbidity and health-care resource use following cardiac surgery (TITRe2).

Health Technol Assess 2016 08;20(60):1-260

Department of Cardiovascular Sciences and National Institute for Health Research Leicester Biomedical Research Unit in Cardiovascular Medicine, University of Leicester, Leicester, UK.

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http://dx.doi.org/10.3310/hta20600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002939PMC
August 2016

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Blood 2016 06 15;127(23):2791-803. Epub 2016 Apr 15.

Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;

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http://dx.doi.org/10.1182/blood-2015-12-688267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734PMC
June 2016

Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking.

Arterioscler Thromb Vasc Biol 2016 05 10;36(5):952-60. Epub 2016 Mar 10.

From the School of Clinical Sciences (J.E.N., M.E.W., S.K.W., A.D.M.), School of Cellular and Molecular Medicine (M.L.J., A.D.M.), School of Biochemistry (R.B.S.), and School of Physiology and Pharmacology (S.J.M.), University of Bristol, Bristol, United Kingdom; and Strathclyde Institute of Pharmacy and Biomedical Sciences, University of Strathclyde, Glasgow, United Kingdom (M.R.C.).

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http://dx.doi.org/10.1161/ATVBAHA.115.307102DOI Listing
May 2016

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Sci Transl Med 2016 Mar 2;8(328):328ra30. Epub 2016 Mar 2.

Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. National Institute for Health Research (NIHR) BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK. Human Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1126/scitranslmed.aad7666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903547PMC
March 2016

Low multiple electrode aggregometry platelet responses are not associated with non-synonymous variants in G-protein coupled receptor genes.

Thromb Res 2015 Oct 12;136(4):818-24. Epub 2015 Aug 12.

School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1016/j.thromres.2015.08.005DOI Listing
October 2015

A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders.

Thromb Haemost 2015 Jul 16;114(1):14-25. Epub 2015 Apr 16.

Diego Mezzano, MD, Department of Hematology-Oncology, School of Medicine, P. Universidad Católica de Chile, Portugal 61, 2nd Floor, Santiago, Chile, Tel.: +56 2 2354 3774, Fax: +56 2 354 3776, E-mail:

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http://dx.doi.org/10.1160/TH14-11-0999DOI Listing
July 2015

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.

Blood 2015 Jul 6;126(2):133-43. Epub 2015 May 6.

Medical Research Council, Laboratory for Molecular Cell Biology, University College London, London, United Kingdom; Inherited Metabolic Diseases, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2014-12-614677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497959PMC
July 2015

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.

Thromb Haemost 2015 Apr 8;113(4):826-37. Epub 2015 Jan 8.

Dr. A. D. Mumford, University of Bristol, Level 7 Bristol Royal Infirmary, Bristol, BS2 8HW, United Kingdom, Tel.: +44 117 3423152, Fax: +44 117 3424036, E-mail

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http://dx.doi.org/10.1160/TH14-08-0679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510585PMC
April 2015

A novel thromboxane A2 receptor N42S variant results in reduced surface expression and platelet dysfunction.

Thromb Haemost 2014 May 23;111(5):923-32. Epub 2014 Jan 23.

S. J. Mundell, School of Physiology and Pharmacology, Medical Sciences Building, University of Bristol, Bristol BS8 1TD, UK, Tel: +44 (0) 117 3311440, E-mail:

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http://dx.doi.org/10.1160/TH13-08-0672DOI Listing
May 2014

Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis.

Thromb Haemost 2013 Dec 19;110(6):1135-44. Epub 2013 Sep 19.

Dr. Sarah Westbury, University of Bristol, Level 7 Bristol Royal Infirmary, Bristol, BS2 8HW, United Kingdom, Tel +44 117 3423152; Fax +44 117 3424036, E-mail

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http://dx.doi.org/10.1160/TH13-05-0408DOI Listing
December 2013

High haematocrit in cyanotic congenital heart disease affects how fibrinogen activity is determined by rotational thromboelastometry.

Thromb Res 2013 Aug 30;132(2):e145-51. Epub 2013 Jul 30.

Bristol Heart Institute & School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2013.07.006DOI Listing
August 2013

Dysfunction of the PI3 kinase/Rap1/integrin α(IIb)β(3) pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia.

Blood 2013 Feb 13;121(7):1209-19. Epub 2012 Dec 13.

School of Physiology and Pharmacology, School of Medical Sciences, University of Bristol, Bristol, United Kingdom.

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http://dx.doi.org/10.1182/blood-2012-05-431288DOI Listing
February 2013

Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia.

Br J Haematol 2013 Jan 15;160(2):220-7. Epub 2012 Oct 15.

Centre for Haematology, Division of Experimental Medicine, Department of Medicine and Faculty of Medicine, Imperial College London, Hammersmith Hospital, London, UK.

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http://dx.doi.org/10.1111/bjh.12085DOI Listing
January 2013

Guideline on the management of bleeding in patients on antithrombotic agents.

Br J Haematol 2013 Jan 1;160(1):35-46. Epub 2012 Nov 1.

Department of Cardiovascular Science, University of Sheffield, Royal Hallamshire Hospital, Glossop Road, Sheffield, UK.

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http://dx.doi.org/10.1111/bjh.12107DOI Listing
January 2013

Evaluation of multiple electrode aggregometry in whole blood using Multiplate Mini Test cells.

Thromb Res 2012 Apr 26;129(4):e59-64. Epub 2012 Jan 26.

University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8HW, United Kingdom.

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http://dx.doi.org/10.1016/j.thromres.2011.12.032DOI Listing
April 2012

An intact PDZ motif is essential for correct P2Y12 purinoceptor traffic in human platelets.

Blood 2011 Nov 21;118(20):5641-51. Epub 2011 Sep 21.

School of Physiology and Pharmacology, University of Bristol, Bristol, United Kingdom.

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http://dx.doi.org/10.1182/blood-2011-02-336826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217363PMC
November 2011

p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.

Br J Haematol 2011 Sep 14;154(5):618-25. Epub 2011 Jul 14.

Sheffield Haemophilia and Thrombosis Centre, University of Sheffield, Sheffield, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2011.08688.xDOI Listing
September 2011

Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C.

Dev Med Child Neurol 2010 May 19;52(5):489-93. Epub 2010 Feb 19.

Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol BS2 8AE, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03618.xDOI Listing
May 2010

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.

Haematologica 2010 Feb 13;95(2):333-7. Epub 2009 Aug 13.

Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 0XY, UK.

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http://dx.doi.org/10.3324/haematol.2009.012286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817039PMC
February 2010

The protein C omega-loop substitution Asn2Ile is associated with reduced protein C anticoagulant activity.

Br J Haematol 2009 Mar 26;144(6):946-53. Epub 2008 Dec 26.

Haemostasis Research Group, Institute of Molecular Medicine, Trinity College Dublin, St James Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07550.xDOI Listing
March 2009

Management of anticoagulation for coronary artery bypass surgery in a patient with severe prekallikrein deficiency.

J Cardiothorac Vasc Anesth 2006 Aug 2;20(4):580-2. Epub 2006 Feb 2.

Department of Anaesthesia, Bristol Royal Infirmary, Bristol, United Kingdom.

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http://dx.doi.org/10.1053/j.jvca.2005.09.001DOI Listing
August 2006

Tissue factor in the myocardium: evidence of roles in haemostasis and inflammation.

Dis Markers 2004 ;20(6):353-8

Department of Haematology, Bristol Royal infirmary, Bristol, BS2 8HW, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839281PMC
http://dx.doi.org/10.1155/2004/963402DOI Listing
May 2005

Pharmacodynamic resistance to warfarin associated with a Val66Met substitution in vitamin K epoxide reductase complex subunit 1.

Thromb Haemost 2005 Jan;93(1):23-6

The Centre for Haemostasis and Thrombosis, St. Thomas' Hospital, London, United Kingdom.

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http://dx.doi.org/10.1160/TH04-08-0540DOI Listing
January 2005

Generation of a polyclonal rabbit anti-mouse tissue factor antibody by nucleic acid immunisation.

Thromb Haemost 2005 Jan;93(1):160-4

Haemostasis and Thrombosis, MRC Clinical Sciences Centre, The Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, Du Cane Road, London, W12 0NN, United Kingdom.

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http://www.thieme-connect.de/DOI/DOI?10.1160/TH03-11-0703
Publisher Site
http://dx.doi.org/10.1160/TH03-11-0703DOI Listing
January 2005

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

Eur J Hum Genet 2004 Oct;12(10):790-6

Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Southampton SO16 5YA, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201252DOI Listing
October 2004

Severe prekallikrein deficiency associated with homozygosity for an Arg94Stop nonsense mutation.

Br J Haematol 2004 Oct;127(2):220-3

Department of Biosciences, University of Kent and Kent Haemophilia Centre, Kent & Canterbury Hospital, Canterbury, Kent, UK.

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http://doi.wiley.com/10.1111/j.1365-2141.2004.05180.x
Publisher Site
http://dx.doi.org/10.1111/j.1365-2141.2004.05180.xDOI Listing
October 2004

A Tyr346-->Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy.

Br J Haematol 2002 Aug;118(2):589-94

Haemostasis Research, MRC Clinical Sciences Centre, Faculty of Medicine at Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

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http://dx.doi.org/10.1046/j.1365-2141.2002.03617.xDOI Listing
August 2002