Andrew Mumford

Andrew Mumford

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Andrew 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

Manufacturing variables and hemostatic function of cold-stored platelets: a systematic review of the literature.

Transfusion 2019 Aug 11;59(8):2722-2732. Epub 2019 Jun 11.

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

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http://dx.doi.org/10.1111/trf.15396DOI Listing
August 2019

MicroRNAs as potential biomarkers in congenital heart surgery.

J Thorac Cardiovasc Surg 2019 Apr 4. Epub 2019 Apr 4.

Bristol Heart Institute, University of Bristol, Bristol, United Kingdom; National Heart and Lung Institute, Imperial College London, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00225223193074
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http://dx.doi.org/10.1016/j.jtcvs.2019.03.062DOI Listing
April 2019

TBXA2R gene variants associated with bleeding.

Platelets 2018 Nov 8;29(7):739-742. Epub 2018 Aug 8.

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

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http://dx.doi.org/10.1080/09537104.2018.1499888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183927PMC
November 2018

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

Erratum to: Methods for evaluating medical tests and biomarkers.

Authors:
Gowri Gopalakrishna Miranda Langendam Rob Scholten Patrick Bossuyt Mariska Leeflang Anna Noel-Storr James Thomas Iain Marshall Byron Wallace Penny Whiting Clare Davenport Mariska Leeflang Gowri GopalaKrishna Isabel de Salis Sue Mallett Robert Wolff Penny Whiting Richard Riley Marie Westwood Jos Kleinen Gary Collins Hans Reitsma Karel Moons Antonia Zapf Annika Hoyer Katharina Kramer Oliver Kuss J Ensor J J Deeks E C Martin R D Riley Gerta Rücker Susanne Steinhauser Martin Schumacher Richard Riley Joie Ensor Kym Snell Brian Willis Thomas Debray Karel Moons Jon Deeks Gary Collins Lavinia Ferrante di Ruffano Brian Willis Clare Davenport Sue Mallett Sian Taylor-Phillips Chris Hyde Jon Deeks Sue Mallett Stuart A Taylor Gauraang Batnagar Sian Taylor-Phillips Lavinia Ferrante Di Ruffano Farah Seedat Aileen Clarke Jon Deeks Sarah Byron Frances Nixon Rebecca Albrow Thomas Walker Carla Deakin Chris Hyde Zhivko Zhelev Harriet Hunt Lavinia Ferrante di Ruffano Yaling Yang Lucy Abel James Buchanan Thomas Fanshawe Bethany Shinkins Laure Wynants Jan Verbakel Sabine Van Huffel Dirk Timmerman Ben Van Calster Mariska Leeflang Aeliko Zwinderman Patrick Bossuyt Jason Oke Jack O'Sullivan Rafael Perera Brian Nicholson Hannah L Bromley Tracy E Roberts Adele Francis Denniis Petrie G Bruce Mann Kinga Malottki Holly Smith Jon Deeks Lucinda Billingham Alice Sitch Sue Mallett Jon Deeks Oke Gerke Mie Holm-Vilstrup Eivind Antonsen Segtnan Ulrich Halekoh Poul Flemming Høilund-Carlsen Bernard G Francq Jon Deeks Alice Sitch Jac Dinnes Julie Parkes Walter Gregory Jenny Hewison Doug Altman William Rosenberg Peter Selby Julien Asselineau Paul Perez Aïssatou Paye Emilie Bessede Cécile Proust-Lima Christiana Naaktgeboren Joris de Groot Anne Rutjes Patrick Bossuyt Johannes Reitsma Karel Moons Gary Collins Emmanuel Ogundimu Jonathan Cook Yannick Le Manach Doug Altman Laure Wynants Yvonne Vergouwe Sabine Van Huffel Dirk Timmerman Ben Van Calster Romin Pajouheshnia Rolf Groenwold Karen Moons Johannes Reitsma Linda Peelen Ben Van Calster Daan Nieboer Yvonne Vergouwe Bavo De Cock Micael J Pencina Ewout W Steyerberg Jennifer Cooper Sian Taylor-Phillips Nick Parsons Chris Stinton Steve Smith Andy Dickens Rachel Jordan Alexandra Enocson David Fitzmaurice Alice Sitch Peymane Adab Bernard G Francq Charles Boachie Gaj Vidmar Karoline Freeman Martin Connock Sian Taylor-Phillips Rachel Court Aileen Clarke Joris de Groot Christiana Naaktgeboren Hans Reitsma Carl Moons Jessica Harris Andrew Mumford Zoe Plummer Kurtis Lee Barnaby Reeves Chris Rogers Veerle Verheyden Gianni D Angelini Gavin J Murphy Jeremy Huddy Melody Ni Katherine Good Graham Cooke Patrick Bossuyt George Hanna Jie Ma Doug Altman Gary Collins K G M Carl Moons Joris A H de Groot Sue Mallett Doug G Altman Johannes B Reitsma Gary S Collins Karel G M Moons Douglas G Altman Johannes B Reitsma Gary S Collins Adina Najwa Kamarudin Ruwanthi Kolamunnage-Dona Trevor Cox Melody Ni Jeremy Huddy Simone Borsci George Hanna Teresa Pérez M Carmen Pardo Angel Candela-Toha Alfonso Muriel Javier Zamora Sabina Sanghera Syed Mohiuddin Richard Martin Jenny Donovan Joanna Coast Mikyung Kelly Seo John Cairns Elizabeth Mitchell Alison Smith Judy Wright Peter Hall Michael Messenger Nicola Calder Nyantara Wickramasekera Karen Vinall-Collier Andrew Lewington Romin Pajouheshnia Johanna Damen Rolf Groenwold Karel Moons Linda Peelen Michael Messenger David Cairns Alison Smith Michelle Hutchinson Judy Wright Peter Hall Nicola Calder Cathie Sturgeon Liz Mitchel Rebecca Kift Sofia Christakoudi Manohursingh Rungall Paula Mobillo Rosa Montero Tjir-Li Tsui Sui Phin Kon Beatriz Tucker Steven Sacks Chris Farmer Terry Strom Paramit Chowdhury Irene Rebollo-Mesa Maria Hernandez-Fuentes Johanna A A G Damen Thomas P A Debray Pauline Heus Lotty Hooft Karel G M Moons Romin Pajouheshnia Johannes B Reitsma Rob J P M Scholten Johanna A A G Damen Lotty Hooft Ewoud Schuit Thomas P A Debray Gary S Collins Ioanna Tzoulaki Camille M Lassale George C M Siontis Virginia Chiocchia Corran Roberts Michael Maia Schlüssel Stephen Gerry James A Black Pauline Heus Yvonne T van der Schouw Linda M Peelen Karel G M Moons Johanna A A G Damen Thomas P A Debray Pauline Heus Lotty Hooft Karel G M Moons Romin Pajouheshnia Johannes B Reitsma Rob J P M Scholten Jie Ma Doug Altman Gary Collins Graeme Spence David McCartney Ann van den Bruel Daniel Lasserson Gail Hayward Werner Vach Antoinette de Jong Coreline Burggraaff Otto Hoekstra Josée Zijlstra Henrica de Vet Harriet Hunt Chris Hyde Sara Graziadio Joy Allen Louise Johnston Rachel O'Leary Michael Power Joy Allen Sara Graziadio Louise Johnson Rachel O'Leary Michael Power Ray Waters John Simpson Louise Johnston Joy Allen Sara Graziadio Rachel O'Leary Ray Waters Michael Power Sue Mallett Thomas R Fanshawe Peter Phillips Andrew Plumb Emma Helbren Steve Halligan Stuart A Taylor Alastair Gale Sue Mallett Peggy Sekula Douglas G Altman Willi Sauerbrei Sue Mallett Thomas R Fanshawe Julia R Forman Susan J Dutton Yemisi Takwoingi Elizabeth M Hensor Thomas E Nichols Bethany Shinkins Yaling Yang Lucy Abel Lavinia Ferrante Di Ruffano Thomas Fanshawe Emmanuelle Kempf Raphael Porcher Jennifer de Beyer Karel Moons Douglas Altman Hans Reitsma Sally Hopewell Willi Sauerbrei Gary Collins John Dennis Beverley Shields Angus Jones William Henley Ewan Pearson Andrew Hattersley Pauline Heus Johanna A A G Damen Romin Pajouheshnia Rob J P M Scholten Johannes B Reitsma Gary S Collins Douglas G Altman Karel G M Moons Lotty Hooft Beverley Shields John Dennis Angus Jones William Henley Ewan Pearson Andrew Hattersley Fueloep Scheibler Anne Rummer Sibylle Sturtz Robert Großelfinger Katie Banister Craig Ramsay Augusto Azuara-Blanco Jonathan Cook Charles Boachie Jennifer Burr Manjula Kumarasamy Rupert Bourne Ijeoma Uchegbu Simone Borsci Jennifer Murphy George Hanna Ijeoma Uchegbu Alex Carter Jen Murphy Melody Ni Joachim Marti Julie Eatock Ijeoma Uchegbu Julie Robotham Maria Dudareva Mark Gilchrist Alison Holmes Ijeoma Uchegbu Simone Borsci Phillip Monaghan Sarah Lord Andrew StJohn Sverre Sandberg Christa Cobbaert Lieselotte Lennartz Wilma Verhagen-Kamerbeek Christoph Ebert Patrick Bossuyt Andrea Horvath Kevin Jenniskens Christiana Naaktgeboren Johannes Reitsma Karel Moons Joris de Groot Chris Hyde Jaime Peters Bogdan Grigore Jaime Peters Chris Hyde Chris Hyde Obi Ukoumunne Jaime Peters Zhivko Zhelev Brooke Levis Andrea Benedetti Alexander W Levis John P A Ioannidis Ian Shrier Pim Cuijpers Simon Gilbody Lorie A Kloda Dean McMillan Scott B Patten Russell J Steele Roy C Ziegelstein Charles H Bombardier Flavia de Lima Osório Jesse R Fann Dwenda Gjerdingen Femke Lamers Manote Lotrakul Sonia R Loureiro Bernd Löwe Juwita Shaaban Lesley Stafford Henk C P M van Weert Mary A Whooley Linda S Williams Karin A Wittkampf Albert S Yeung Brett D Thombs Jaime Peters Chris Cooper James Buchanan Tom Nieto Claire Smith Olga Tucker Janine Dretzke Andrew Beggs Nirmala Rai Clare Davenport Sue Bayliss Simon Stevens Kym Snell Sue Mallet Jon Deeks Sudha Sundar Emma Hall Nuria Porta David Lorente Estelles Johann de Bono

Diagn Progn Res 2017 30;1:11. Epub 2017 Mar 30.

278The Institute of Cancer Research, London, UK.

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http://dx.doi.org/10.1186/s41512-017-0011-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460744PMC
March 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

Inverse agonism at the P2Y12 receptor and ENT1 transporter blockade contribute to platelet inhibition by ticagrelor.

Blood 2016 12 30;128(23):2717-2728. Epub 2016 Sep 30.

School of Physiology, Pharmacology and Neuroscience, Faculty of Biomedical Sciences, University of Bristol, Bristol, United Kingdom.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2016-03-70
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http://dx.doi.org/10.1182/blood-2016-03-707844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161012PMC
December 2016

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

Subclavian vein thrombosis in an otherwise healthy 9-year-old boy.

BMJ Case Rep 2014 May 22;2014. Epub 2014 May 22.

School of Clinical Sciences, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1136/bcr-2013-202413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039887PMC
May 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 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

Guidelines for the laboratory investigation of heritable disorders of platelet function.

Br J Haematol 2011 Oct 26;155(1):30-44. Epub 2011 Jul 26.

Oxford Haemophilia & Thrombosis Centre, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2011.08793.xDOI Listing
October 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

Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series.

J Med Case Rep 2011 Sep 21;5:471. Epub 2011 Sep 21.

Department of Medicine, Uster Hospital, Brunnenstrasse 42, CH-8610 Uster, Switzerland.

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http://dx.doi.org/10.1186/1752-1947-5-471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189149PMC
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

Screening tests of platelet function: update on their appropriate uses for diagnostic testing.

Semin Thromb Hemost 2009 Mar 30;35(2):150-7. Epub 2009 Apr 30.

Oxford Haemophilia & Thrombosis Centre, Churchill Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1055/s-0029-1220323DOI Listing
March 2009

Understanding the therapeutic action of recombinant factor VIIa in platelet disorders.

Platelets 2008 Dec;19(8):571-81

Department of Biochemistry, School of Medical Sciences, University of Bristol, University Walk, Bristol BS8 1TD, UK.

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http://dx.doi.org/10.1080/09537100802406653DOI Listing
December 2008

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
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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
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http://dx.doi.org/10.1111/j.1365-2141.2004.05180.xDOI Listing
October 2004

Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis.

Blood 2004 May 24;103(9):3381-7. Epub 2003 Dec 24.

Department of Laboratory Medicine, Division of Clinical Chemistry, Lund University, The Wallenberg Laboratory, University Hospital, Malmö, Sweden.

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http://dx.doi.org/10.1182/blood-2003-06-2092DOI Listing
May 2004

Klippel-Trenauney-Weber syndrome associated with hemoptysis.

Ann Thorac Surg 2004 May;77(5):1843-5

Department of Thoracic Surgery, Bristol Royal Infirmary, Bristol, United Kingdom.

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http://dx.doi.org/10.1016/S0003-4975(03)01366-3DOI Listing
May 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