A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Identifieur interne : 001668 ( Pmc/Curation ); précédent : 001667; suivant : 001669A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
Auteurs : Ilenia Simeoni [Royaume-Uni] ; Jonathan C. Stephens [Royaume-Uni] ; Fengyuan Hu [Royaume-Uni] ; Sri V. V. Deevi [Royaume-Uni] ; Karyn Megy [Royaume-Uni] ; Tadbir K. Bariana [Royaume-Uni] ; Claire Lentaigne [Royaume-Uni] ; Sol Schulman [États-Unis] ; Suthesh Sivapalaratnam [Royaume-Uni] ; Minka J. A. Vries [Pays-Bas] ; Sarah K. Westbury [Royaume-Uni] ; Daniel Greene [Royaume-Uni] ; Sofia Papadia [Royaume-Uni] ; Marie-Christine Alessi [France] ; Antony P. Attwood [Royaume-Uni] ; Matthias Ballmaier [Allemagne] ; Gareth Baynam [Australie] ; Emilse Bermejo [Argentine] ; Marta Bertoli [Italie] ; Paul F. Bray [États-Unis] ; Loredana Bury [Italie] ; Marco Cattaneo [Italie] ; Peter Collins [Royaume-Uni] ; Louise C. Daugherty [Royaume-Uni] ; Rémi Favier [France] ; Deborah L. French [États-Unis] ; Bruce Furie [États-Unis] ; Michael Gattens [Royaume-Uni] ; Manuela Germeshausen [Allemagne] ; Cedric Ghevaert [Royaume-Uni] ; Anne C. Goodeve [Royaume-Uni] ; Jose A. Guerrero [Royaume-Uni] ; Daniel J. Hampshire [Royaume-Uni] ; Daniel P. Hart [Royaume-Uni] ; Johan W. M. Heemskerk [Pays-Bas] ; Yvonne M. C. Henskens [Pays-Bas] ; Marian Hill [Royaume-Uni] ; Nancy Hogg [Royaume-Uni] ; Jennifer D. Jolley [Royaume-Uni] ; Walter H. Kahr [Canada] ; Anne M. Kelly [Royaume-Uni] ; Ron Kerr [Royaume-Uni] ; Myrto Kostadima [Royaume-Uni] ; Shinji Kunishima [Japon] ; Michele P. Lambert [États-Unis] ; Ri Liesner [Royaume-Uni] ; José A. L Pez [États-Unis] ; Rutendo P. Mapeta [Royaume-Uni] ; Mary Mathias [Royaume-Uni] ; Carolyn M. Millar [Royaume-Uni] ; Amit Nathwani [Royaume-Uni] ; Marguerite Neerman-Arbez [Suisse] ; Alan T. Nurden [France] ; Paquita Nurden [France] ; Maha Othman [Canada] ; Kathelijne Peerlinck [Belgique] ; David J. Perry [Royaume-Uni] ; Pawan Poudel [Royaume-Uni] ; Pieter Reitsma [Pays-Bas] ; Matthew T. Rondina [États-Unis] ; Peter A. Smethurst [Royaume-Uni, Canada] ; William Stevenson [Australie] ; Artur Szkotak [Canada] ; Salih Tuna [Royaume-Uni] ; Christel Van Geet [Royaume-Uni] ; Deborah Whitehorn [Royaume-Uni] ; David A. Wilcox [États-Unis] ; Bin Zhang [États-Unis] ; Shoshana Revel-Vilk [Israël] ; Paolo Gresele [Italie] ; Daniel B. Bellissimo [États-Unis] ; Christopher J. Penkett [Royaume-Uni] ; Michael A. Laffan [Royaume-Uni] ; Andrew D. Mumford [Royaume-Uni] ; Augusto Rendon [Royaume-Uni] ; Keith Gomez [Royaume-Uni] ; Kathleen Freson [Royaume-Uni] ; Willem H. Ouwehand [Royaume-Uni] ; Ernest Turro [Royaume-Uni]Source :
- Blood [ 0006-4971 ] ; 2016.
Abstract
Url:
DOI: 10.1182/blood-2015-12-688267
PubMed: 27084890
PubMed Central: 5016734
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Ilenia Simeoni<affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff57">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge</wicri:regionArea></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation>Le document en format XML
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V." last="Deevi">Sri V. V. Deevi</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Megy, Karyn" sort="Megy, Karyn" uniqKey="Megy K" first="Karyn" last="Megy">Karyn Megy</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Bariana, Tadbir K" sort="Bariana, Tadbir K" uniqKey="Bariana T" first="Tadbir K." last="Bariana">Tadbir K. Bariana</name><affiliation wicri:level="1"><nlm:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, University College London Cancer Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Lentaigne, Claire" sort="Lentaigne, Claire" uniqKey="Lentaigne C" first="Claire" last="Lentaigne">Claire Lentaigne</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Schulman, Sol" sort="Schulman, Sol" uniqKey="Schulman S" first="Sol" last="Schulman">Sol Schulman</name><affiliation wicri:level="2"><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Sivapalaratnam, Suthesh" sort="Sivapalaratnam, Suthesh" uniqKey="Sivapalaratnam S" first="Suthesh" last="Sivapalaratnam">Suthesh Sivapalaratnam</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Barts Health National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Vries, Minka J A" sort="Vries, Minka J A" uniqKey="Vries M" first="Minka J. A." last="Vries">Minka J. A. Vries</name><affiliation wicri:level="1"><nlm:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Maastricht University, Maastricht</wicri:regionArea></affiliation></author><author><name sortKey="Westbury, Sarah K" sort="Westbury, Sarah K" uniqKey="Westbury S" first="Sarah K." last="Westbury">Sarah K. Westbury</name><affiliation wicri:level="1"><nlm:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Cellular and Molecular Medicine, University of Bristol, Bristol</wicri:regionArea></affiliation></author><author><name sortKey="Greene, Daniel" sort="Greene, Daniel" uniqKey="Greene D" first="Daniel" last="Greene">Daniel Greene</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Papadia, Sofia" sort="Papadia, Sofia" uniqKey="Papadia S" first="Sofia" last="Papadia">Sofia Papadia</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Alessi, Marie Christine" sort="Alessi, Marie Christine" uniqKey="Alessi M" first="Marie-Christine" last="Alessi">Marie-Christine Alessi</name><affiliation wicri:level="1"><nlm:aff id="aff14">Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille</wicri:regionArea></affiliation></author><author><name sortKey="Attwood, Antony P" sort="Attwood, Antony P" uniqKey="Attwood A" first="Antony P." last="Attwood">Antony P. Attwood</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Ballmaier, Matthias" sort="Ballmaier, Matthias" uniqKey="Ballmaier M" first="Matthias" last="Ballmaier">Matthias Ballmaier</name><affiliation wicri:level="1"><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Hematology and Oncology, Hannover Medical School, Hannover</wicri:regionArea></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation wicri:level="1"><nlm:aff id="aff16">School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Paediatrics and Child Health, The University of Western Australia, Crawley</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17">Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff18">Office of Population Health Genomics, WA Department of Health, East Perth, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, WA Department of Health, East Perth</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff19">Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff20">Telethon Kids Institute, Subiaco, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Telethon Kids Institute, Subiaco</wicri:regionArea></affiliation></author><author><name sortKey="Bermejo, Emilse" sort="Bermejo, Emilse" uniqKey="Bermejo E" first="Emilse" last="Bermejo">Emilse Bermejo</name><affiliation wicri:level="1"><nlm:aff id="aff21">Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</nlm:aff><country xml:lang="fr">Argentine</country><wicri:regionArea>Hematological Research Institute, National Academy of Medicine, Buenos Aires</wicri:regionArea></affiliation></author><author><name sortKey="Bertoli, Marta" sort="Bertoli, Marta" uniqKey="Bertoli M" first="Marta" last="Bertoli">Marta Bertoli</name><affiliation wicri:level="1"><nlm:aff id="aff22">San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Bray, Paul F" sort="Bray, Paul F" uniqKey="Bray P" first="Paul F." last="Bray">Paul F. Bray</name><affiliation wicri:level="2"><nlm:aff id="aff23">Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Bury, Loredana" sort="Bury, Loredana" uniqKey="Bury L" first="Loredana" last="Bury">Loredana Bury</name><affiliation wicri:level="1"><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia</wicri:regionArea></affiliation></author><author><name sortKey="Cattaneo, Marco" sort="Cattaneo, Marco" uniqKey="Cattaneo M" first="Marco" last="Cattaneo">Marco Cattaneo</name><affiliation wicri:level="1"><nlm:aff id="aff25">Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Peter" sort="Collins, Peter" uniqKey="Collins P" first="Peter" last="Collins">Peter Collins</name><affiliation wicri:level="1"><nlm:aff id="aff26">Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff</wicri:regionArea></affiliation></author><author><name sortKey="Daugherty, Louise C" sort="Daugherty, Louise C" uniqKey="Daugherty L" first="Louise C." last="Daugherty">Louise C. Daugherty</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Rémi" last="Favier">Rémi Favier</name><affiliation wicri:level="1"><nlm:aff id="aff27">Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif</wicri:regionArea></affiliation></author><author><name sortKey="French, Deborah L" sort="French, Deborah L" uniqKey="French D" first="Deborah L." last="French">Deborah L. French</name><affiliation wicri:level="2"><nlm:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Furie, Bruce" sort="Furie, Bruce" uniqKey="Furie B" first="Bruce" last="Furie">Bruce Furie</name><affiliation wicri:level="2"><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Gattens, Michael" sort="Gattens, Michael" uniqKey="Gattens M" first="Michael" last="Gattens">Michael Gattens</name><affiliation wicri:level="1"><nlm:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Germeshausen, Manuela" sort="Germeshausen, Manuela" uniqKey="Germeshausen M" first="Manuela" last="Germeshausen">Manuela Germeshausen</name><affiliation wicri:level="1"><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Hematology and Oncology, Hannover Medical School, Hannover</wicri:regionArea></affiliation></author><author><name sortKey="Ghevaert, Cedric" sort="Ghevaert, Cedric" uniqKey="Ghevaert C" first="Cedric" last="Ghevaert">Cedric Ghevaert</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Goodeve, Anne C" sort="Goodeve, Anne C" uniqKey="Goodeve A" first="Anne C." last="Goodeve">Anne C. Goodeve</name><affiliation wicri:level="1"><nlm:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield</wicri:regionArea></affiliation></author><author><name sortKey="Guerrero, Jose A" sort="Guerrero, Jose A" uniqKey="Guerrero J" first="Jose A." last="Guerrero">Jose A. Guerrero</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation></author><author><name sortKey="Hampshire, Daniel J" sort="Hampshire, Daniel J" uniqKey="Hampshire D" first="Daniel J." last="Hampshire">Daniel J. Hampshire</name><affiliation wicri:level="1"><nlm:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield</wicri:regionArea></affiliation></author><author><name sortKey="Hart, Daniel P" sort="Hart, Daniel P" uniqKey="Hart D" first="Daniel P." last="Hart">Daniel P. Hart</name><affiliation wicri:level="1"><nlm:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Barts Health National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Heemskerk, Johan W M" sort="Heemskerk, Johan W M" uniqKey="Heemskerk J" first="Johan W. M." last="Heemskerk">Johan W. M. Heemskerk</name><affiliation wicri:level="1"><nlm:aff id="aff31">Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht</wicri:regionArea></affiliation></author><author><name sortKey="Henskens, Yvonne M C" sort="Henskens, Yvonne M C" uniqKey="Henskens Y" first="Yvonne M. C." last="Henskens">Yvonne M. C. Henskens</name><affiliation wicri:level="1"><nlm:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Maastricht University, Maastricht</wicri:regionArea></affiliation></author><author><name sortKey="Hill, Marian" sort="Hill, Marian" uniqKey="Hill M" first="Marian" last="Hill">Marian Hill</name><affiliation wicri:level="1"><nlm:aff id="aff32">Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham</wicri:regionArea></affiliation></author><author><name sortKey="Hogg, Nancy" sort="Hogg, Nancy" uniqKey="Hogg N" first="Nancy" last="Hogg">Nancy Hogg</name><affiliation wicri:level="1"><nlm:aff id="aff33">Cancer Research UK London Research Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Research UK London Research Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Jolley, Jennifer D" sort="Jolley, Jennifer D" uniqKey="Jolley J" first="Jennifer D." last="Jolley">Jennifer D. Jolley</name><affiliation wicri:level="1"><nlm:aff id="aff34">Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Components Development Laboratory, National Health Service Blood and Transplant, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Kahr, Walter H" sort="Kahr, Walter H" uniqKey="Kahr W" first="Walter H." last="Kahr">Walter H. Kahr</name><affiliation wicri:level="1"><nlm:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Kelly, Anne M" sort="Kelly, Anne M" uniqKey="Kelly A" first="Anne M." last="Kelly">Anne M. Kelly</name><affiliation wicri:level="1"><nlm:aff id="aff36">Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Kerr, Ron" sort="Kerr, Ron" uniqKey="Kerr R" first="Ron" last="Kerr">Ron Kerr</name><affiliation wicri:level="1"><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Ninewells Hospital, Dundee</wicri:regionArea></affiliation></author><author><name sortKey="Kostadima, Myrto" sort="Kostadima, Myrto" uniqKey="Kostadima M" first="Myrto" last="Kostadima">Myrto Kostadima</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Kunishima, Shinji" sort="Kunishima, Shinji" uniqKey="Kunishima S" first="Shinji" last="Kunishima">Shinji Kunishima</name><affiliation wicri:level="1"><nlm:aff id="aff38">Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya</wicri:regionArea></affiliation></author><author><name sortKey="Lambert, Michele P" sort="Lambert, Michele P" uniqKey="Lambert M" first="Michele P." last="Lambert">Michele P. Lambert</name><affiliation wicri:level="2"><nlm:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="aff39">Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Liesner, Ri" sort="Liesner, Ri" uniqKey="Liesner R" first="Ri" last="Liesner">Ri Liesner</name><affiliation wicri:level="1"><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Ninewells Hospital, Dundee</wicri:regionArea></affiliation></author><author><name sortKey="L Pez, Jose A" sort="L Pez, Jose A" uniqKey="L Pez J" first="José A." last="L Pez">José A. L Pez</name><affiliation wicri:level="2"><nlm:aff id="aff40">Puget Sound Blood Center, Research Institute, Seattle, WA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Puget Sound Blood Center, Research Institute, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Mapeta, Rutendo P" sort="Mapeta, Rutendo P" uniqKey="Mapeta R" first="Rutendo P." last="Mapeta">Rutendo P. Mapeta</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Mathias, Mary" sort="Mathias, Mary" uniqKey="Mathias M" first="Mary" last="Mathias">Mary Mathias</name><affiliation wicri:level="1"><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Ninewells Hospital, Dundee</wicri:regionArea></affiliation></author><author><name sortKey="Millar, Carolyn M" sort="Millar, Carolyn M" uniqKey="Millar C" first="Carolyn M." last="Millar">Carolyn M. Millar</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Nathwani, Amit" sort="Nathwani, Amit" uniqKey="Nathwani A" first="Amit" last="Nathwani">Amit Nathwani</name><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, University College London Cancer Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Neerman Arbez, Marguerite" sort="Neerman Arbez, Marguerite" uniqKey="Neerman Arbez M" first="Marguerite" last="Neerman-Arbez">Marguerite Neerman-Arbez</name><affiliation wicri:level="1"><nlm:aff id="aff41">Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University Medical Centre, Geneva</wicri:regionArea></affiliation></author><author><name sortKey="Nurden, Alan T" sort="Nurden, Alan T" uniqKey="Nurden A" first="Alan T." last="Nurden">Alan T. Nurden</name><affiliation wicri:level="1"><nlm:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac</wicri:regionArea></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation wicri:level="1"><nlm:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac</wicri:regionArea></affiliation></author><author><name sortKey="Othman, Maha" sort="Othman, Maha" uniqKey="Othman M" first="Maha" last="Othman">Maha Othman</name><affiliation wicri:level="1"><nlm:aff id="aff43">Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Peerlinck, Kathelijne" sort="Peerlinck, Kathelijne" uniqKey="Peerlinck K" first="Kathelijne" last="Peerlinck">Kathelijne Peerlinck</name><affiliation wicri:level="1"><nlm:aff id="aff44">Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven</wicri:regionArea></affiliation></author><author><name sortKey="Perry, David J" sort="Perry, David J" uniqKey="Perry D" first="David J." last="Perry">David J. Perry</name><affiliation wicri:level="1"><nlm:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Poudel, Pawan" sort="Poudel, Pawan" uniqKey="Poudel P" first="Pawan" last="Poudel">Pawan Poudel</name><affiliation wicri:level="1"><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer Research, London</wicri:regionArea></affiliation></author><author><name sortKey="Reitsma, Pieter" sort="Reitsma, Pieter" uniqKey="Reitsma P" first="Pieter" last="Reitsma">Pieter Reitsma</name><affiliation wicri:level="1"><nlm:aff id="aff46">Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Rondina, Matthew T" sort="Rondina, Matthew T" uniqKey="Rondina M" first="Matthew T." last="Rondina">Matthew T. Rondina</name><affiliation wicri:level="2"><nlm:aff id="aff47">University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Smethurst, Peter A" sort="Smethurst, Peter A" uniqKey="Smethurst P" first="Peter A." last="Smethurst">Peter A. Smethurst</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Stevenson, William" sort="Stevenson, William" uniqKey="Stevenson W" first="William" last="Stevenson">William Stevenson</name><affiliation wicri:level="1"><nlm:aff id="aff48">Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff49">Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Kolling Institute of Medical Research, The University of Sydney, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Szkotak, Artur" sort="Szkotak, Artur" uniqKey="Szkotak A" first="Artur" last="Szkotak">Artur Szkotak</name><affiliation wicri:level="1"><nlm:aff id="aff50">Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta</wicri:regionArea></affiliation></author><author><name sortKey="Tuna, Salih" sort="Tuna, Salih" uniqKey="Tuna S" first="Salih" last="Tuna">Salih Tuna</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Van Geet, Christel" sort="Van Geet, Christel" uniqKey="Van Geet C" first="Christel" last="Van Geet">Christel Van Geet</name><affiliation wicri:level="1"><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer Research, London</wicri:regionArea></affiliation></author><author><name sortKey="Whitehorn, Deborah" sort="Whitehorn, Deborah" uniqKey="Whitehorn D" first="Deborah" last="Whitehorn">Deborah Whitehorn</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Wilcox, David A" sort="Wilcox, David A" uniqKey="Wilcox D" first="David A." last="Wilcox">David A. Wilcox</name><affiliation wicri:level="2"><nlm:aff id="aff51">Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee</wicri:cityArea></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation wicri:level="2"><nlm:aff id="aff52">Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Revel Vilk, Shoshana" sort="Revel Vilk, Shoshana" uniqKey="Revel Vilk S" first="Shoshana" last="Revel-Vilk">Shoshana Revel-Vilk</name><affiliation wicri:level="1"><nlm:aff id="aff53">Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Gresele, Paolo" sort="Gresele, Paolo" uniqKey="Gresele P" first="Paolo" last="Gresele">Paolo Gresele</name><affiliation wicri:level="1"><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia</wicri:regionArea></affiliation></author><author><name sortKey="Bellissimo, Daniel B" sort="Bellissimo, Daniel B" uniqKey="Bellissimo D" first="Daniel B." last="Bellissimo">Daniel B. Bellissimo</name><affiliation wicri:level="2"><nlm:aff id="aff54">Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Penkett, Christopher J" sort="Penkett, Christopher J" uniqKey="Penkett C" first="Christopher J." last="Penkett">Christopher J. Penkett</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Laffan, Michael A" sort="Laffan, Michael A" uniqKey="Laffan M" first="Michael A." last="Laffan">Michael A. Laffan</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Mumford, Andrew D" sort="Mumford, Andrew D" uniqKey="Mumford A" first="Andrew D." last="Mumford">Andrew D. Mumford</name><affiliation wicri:level="1"><nlm:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Cellular and Molecular Medicine, University of Bristol, Bristol</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff55">School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Clinical Sciences, University of Bristol, Bristol</wicri:regionArea></affiliation></author><author><name sortKey="Rendon, Augusto" sort="Rendon, Augusto" uniqKey="Rendon A" first="Augusto" last="Rendon">Augusto Rendon</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff wicri:cut="; and" id="aff56">Genomics England Limited, London, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genomics England Limited, London</wicri:regionArea></affiliation></author><author><name sortKey="Gomez, Keith" sort="Gomez, Keith" uniqKey="Gomez K" first="Keith" last="Gomez">Keith Gomez</name><affiliation wicri:level="1"><nlm:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, University College London Cancer Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Freson, Kathleen" sort="Freson, Kathleen" uniqKey="Freson K" first="Kathleen" last="Freson">Kathleen Freson</name><affiliation wicri:level="1"><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer Research, London</wicri:regionArea></affiliation></author><author><name sortKey="Ouwehand, Willem H" sort="Ouwehand, Willem H" uniqKey="Ouwehand W" first="Willem H." last="Ouwehand">Willem H. Ouwehand</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff57">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Turro, Ernest" sort="Turro, Ernest" uniqKey="Turro E" first="Ernest" last="Turro">Ernest Turro</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27084890</idno><idno type="pmc">5016734</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016734</idno><idno type="RBID">PMC:5016734</idno><idno type="doi">10.1182/blood-2015-12-688267</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001808</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001808</idno><idno type="wicri:Area/Pmc/Curation">001668</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001668</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders</title><author><name sortKey="Simeoni, Ilenia" sort="Simeoni, Ilenia" uniqKey="Simeoni I" first="Ilenia" last="Simeoni">Ilenia Simeoni</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Stephens, Jonathan C" sort="Stephens, Jonathan C" uniqKey="Stephens J" first="Jonathan C." last="Stephens">Jonathan C. Stephens</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Hu, Fengyuan" sort="Hu, Fengyuan" uniqKey="Hu F" first="Fengyuan" last="Hu">Fengyuan Hu</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff4">Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Deevi, Sri V V" sort="Deevi, Sri V V" uniqKey="Deevi S" first="Sri V. V." last="Deevi">Sri V. V. Deevi</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Megy, Karyn" sort="Megy, Karyn" uniqKey="Megy K" first="Karyn" last="Megy">Karyn Megy</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Bariana, Tadbir K" sort="Bariana, Tadbir K" uniqKey="Bariana T" first="Tadbir K." last="Bariana">Tadbir K. Bariana</name><affiliation wicri:level="1"><nlm:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, University College London Cancer Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Lentaigne, Claire" sort="Lentaigne, Claire" uniqKey="Lentaigne C" first="Claire" last="Lentaigne">Claire Lentaigne</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Schulman, Sol" sort="Schulman, Sol" uniqKey="Schulman S" first="Sol" last="Schulman">Sol Schulman</name><affiliation wicri:level="2"><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Sivapalaratnam, Suthesh" sort="Sivapalaratnam, Suthesh" uniqKey="Sivapalaratnam S" first="Suthesh" last="Sivapalaratnam">Suthesh Sivapalaratnam</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Barts Health National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Vries, Minka J A" sort="Vries, Minka J A" uniqKey="Vries M" first="Minka J. A." last="Vries">Minka J. A. Vries</name><affiliation wicri:level="1"><nlm:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Maastricht University, Maastricht</wicri:regionArea></affiliation></author><author><name sortKey="Westbury, Sarah K" sort="Westbury, Sarah K" uniqKey="Westbury S" first="Sarah K." last="Westbury">Sarah K. Westbury</name><affiliation wicri:level="1"><nlm:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Cellular and Molecular Medicine, University of Bristol, Bristol</wicri:regionArea></affiliation></author><author><name sortKey="Greene, Daniel" sort="Greene, Daniel" uniqKey="Greene D" first="Daniel" last="Greene">Daniel Greene</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Papadia, Sofia" sort="Papadia, Sofia" uniqKey="Papadia S" first="Sofia" last="Papadia">Sofia Papadia</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Alessi, Marie Christine" sort="Alessi, Marie Christine" uniqKey="Alessi M" first="Marie-Christine" last="Alessi">Marie-Christine Alessi</name><affiliation wicri:level="1"><nlm:aff id="aff14">Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille</wicri:regionArea></affiliation></author><author><name sortKey="Attwood, Antony P" sort="Attwood, Antony P" uniqKey="Attwood A" first="Antony P." last="Attwood">Antony P. Attwood</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Ballmaier, Matthias" sort="Ballmaier, Matthias" uniqKey="Ballmaier M" first="Matthias" last="Ballmaier">Matthias Ballmaier</name><affiliation wicri:level="1"><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Hematology and Oncology, Hannover Medical School, Hannover</wicri:regionArea></affiliation></author><author><name sortKey="Baynam, Gareth" sort="Baynam, Gareth" uniqKey="Baynam G" first="Gareth" last="Baynam">Gareth Baynam</name><affiliation wicri:level="1"><nlm:aff id="aff16">School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Paediatrics and Child Health, The University of Western Australia, Crawley</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff17">Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff18">Office of Population Health Genomics, WA Department of Health, East Perth, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, WA Department of Health, East Perth</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff19">Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff20">Telethon Kids Institute, Subiaco, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Telethon Kids Institute, Subiaco</wicri:regionArea></affiliation></author><author><name sortKey="Bermejo, Emilse" sort="Bermejo, Emilse" uniqKey="Bermejo E" first="Emilse" last="Bermejo">Emilse Bermejo</name><affiliation wicri:level="1"><nlm:aff id="aff21">Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</nlm:aff><country xml:lang="fr">Argentine</country><wicri:regionArea>Hematological Research Institute, National Academy of Medicine, Buenos Aires</wicri:regionArea></affiliation></author><author><name sortKey="Bertoli, Marta" sort="Bertoli, Marta" uniqKey="Bertoli M" first="Marta" last="Bertoli">Marta Bertoli</name><affiliation wicri:level="1"><nlm:aff id="aff22">San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Bray, Paul F" sort="Bray, Paul F" uniqKey="Bray P" first="Paul F." last="Bray">Paul F. Bray</name><affiliation wicri:level="2"><nlm:aff id="aff23">Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Bury, Loredana" sort="Bury, Loredana" uniqKey="Bury L" first="Loredana" last="Bury">Loredana Bury</name><affiliation wicri:level="1"><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia</wicri:regionArea></affiliation></author><author><name sortKey="Cattaneo, Marco" sort="Cattaneo, Marco" uniqKey="Cattaneo M" first="Marco" last="Cattaneo">Marco Cattaneo</name><affiliation wicri:level="1"><nlm:aff id="aff25">Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Peter" sort="Collins, Peter" uniqKey="Collins P" first="Peter" last="Collins">Peter Collins</name><affiliation wicri:level="1"><nlm:aff id="aff26">Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff</wicri:regionArea></affiliation></author><author><name sortKey="Daugherty, Louise C" sort="Daugherty, Louise C" uniqKey="Daugherty L" first="Louise C." last="Daugherty">Louise C. Daugherty</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Rémi" last="Favier">Rémi Favier</name><affiliation wicri:level="1"><nlm:aff id="aff27">Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif</wicri:regionArea></affiliation></author><author><name sortKey="French, Deborah L" sort="French, Deborah L" uniqKey="French D" first="Deborah L." last="French">Deborah L. French</name><affiliation wicri:level="2"><nlm:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Furie, Bruce" sort="Furie, Bruce" uniqKey="Furie B" first="Bruce" last="Furie">Bruce Furie</name><affiliation wicri:level="2"><nlm:aff id="aff9">Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Gattens, Michael" sort="Gattens, Michael" uniqKey="Gattens M" first="Michael" last="Gattens">Michael Gattens</name><affiliation wicri:level="1"><nlm:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Germeshausen, Manuela" sort="Germeshausen, Manuela" uniqKey="Germeshausen M" first="Manuela" last="Germeshausen">Manuela Germeshausen</name><affiliation wicri:level="1"><nlm:aff id="aff15">Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Hematology and Oncology, Hannover Medical School, Hannover</wicri:regionArea></affiliation></author><author><name sortKey="Ghevaert, Cedric" sort="Ghevaert, Cedric" uniqKey="Ghevaert C" first="Cedric" last="Ghevaert">Cedric Ghevaert</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Goodeve, Anne C" sort="Goodeve, Anne C" uniqKey="Goodeve A" first="Anne C." last="Goodeve">Anne C. Goodeve</name><affiliation wicri:level="1"><nlm:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield</wicri:regionArea></affiliation></author><author><name sortKey="Guerrero, Jose A" sort="Guerrero, Jose A" uniqKey="Guerrero J" first="Jose A." last="Guerrero">Jose A. Guerrero</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation></author><author><name sortKey="Hampshire, Daniel J" sort="Hampshire, Daniel J" uniqKey="Hampshire D" first="Daniel J." last="Hampshire">Daniel J. Hampshire</name><affiliation wicri:level="1"><nlm:aff id="aff30">Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield</wicri:regionArea></affiliation></author><author><name sortKey="Hart, Daniel P" sort="Hart, Daniel P" uniqKey="Hart D" first="Daniel P." last="Hart">Daniel P. Hart</name><affiliation wicri:level="1"><nlm:aff id="aff10">Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Barts Health National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Heemskerk, Johan W M" sort="Heemskerk, Johan W M" uniqKey="Heemskerk J" first="Johan W. M." last="Heemskerk">Johan W. M. Heemskerk</name><affiliation wicri:level="1"><nlm:aff id="aff31">Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht</wicri:regionArea></affiliation></author><author><name sortKey="Henskens, Yvonne M C" sort="Henskens, Yvonne M C" uniqKey="Henskens Y" first="Yvonne M. C." last="Henskens">Yvonne M. C. Henskens</name><affiliation wicri:level="1"><nlm:aff id="aff11">Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Biochemistry, Maastricht University, Maastricht</wicri:regionArea></affiliation></author><author><name sortKey="Hill, Marian" sort="Hill, Marian" uniqKey="Hill M" first="Marian" last="Hill">Marian Hill</name><affiliation wicri:level="1"><nlm:aff id="aff32">Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham</wicri:regionArea></affiliation></author><author><name sortKey="Hogg, Nancy" sort="Hogg, Nancy" uniqKey="Hogg N" first="Nancy" last="Hogg">Nancy Hogg</name><affiliation wicri:level="1"><nlm:aff id="aff33">Cancer Research UK London Research Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Research UK London Research Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Jolley, Jennifer D" sort="Jolley, Jennifer D" uniqKey="Jolley J" first="Jennifer D." last="Jolley">Jennifer D. Jolley</name><affiliation wicri:level="1"><nlm:aff id="aff34">Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Components Development Laboratory, National Health Service Blood and Transplant, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Kahr, Walter H" sort="Kahr, Walter H" uniqKey="Kahr W" first="Walter H." last="Kahr">Walter H. Kahr</name><affiliation wicri:level="1"><nlm:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Kelly, Anne M" sort="Kelly, Anne M" uniqKey="Kelly A" first="Anne M." last="Kelly">Anne M. Kelly</name><affiliation wicri:level="1"><nlm:aff id="aff36">Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Kerr, Ron" sort="Kerr, Ron" uniqKey="Kerr R" first="Ron" last="Kerr">Ron Kerr</name><affiliation wicri:level="1"><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Ninewells Hospital, Dundee</wicri:regionArea></affiliation></author><author><name sortKey="Kostadima, Myrto" sort="Kostadima, Myrto" uniqKey="Kostadima M" first="Myrto" last="Kostadima">Myrto Kostadima</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Kunishima, Shinji" sort="Kunishima, Shinji" uniqKey="Kunishima S" first="Shinji" last="Kunishima">Shinji Kunishima</name><affiliation wicri:level="1"><nlm:aff id="aff38">Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</nlm:aff><country xml:lang="fr">Japon</country><wicri:regionArea>Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya</wicri:regionArea></affiliation></author><author><name sortKey="Lambert, Michele P" sort="Lambert, Michele P" uniqKey="Lambert M" first="Michele P." last="Lambert">Michele P. Lambert</name><affiliation wicri:level="2"><nlm:aff id="aff28">Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="aff39">Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Liesner, Ri" sort="Liesner, Ri" uniqKey="Liesner R" first="Ri" last="Liesner">Ri Liesner</name><affiliation wicri:level="1"><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Ninewells Hospital, Dundee</wicri:regionArea></affiliation></author><author><name sortKey="L Pez, Jose A" sort="L Pez, Jose A" uniqKey="L Pez J" first="José A." last="L Pez">José A. L Pez</name><affiliation wicri:level="2"><nlm:aff id="aff40">Puget Sound Blood Center, Research Institute, Seattle, WA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Puget Sound Blood Center, Research Institute, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Mapeta, Rutendo P" sort="Mapeta, Rutendo P" uniqKey="Mapeta R" first="Rutendo P." last="Mapeta">Rutendo P. Mapeta</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Mathias, Mary" sort="Mathias, Mary" uniqKey="Mathias M" first="Mary" last="Mathias">Mary Mathias</name><affiliation wicri:level="1"><nlm:aff id="aff37">Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Ninewells Hospital, Dundee</wicri:regionArea></affiliation></author><author><name sortKey="Millar, Carolyn M" sort="Millar, Carolyn M" uniqKey="Millar C" first="Carolyn M." last="Millar">Carolyn M. Millar</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Nathwani, Amit" sort="Nathwani, Amit" uniqKey="Nathwani A" first="Amit" last="Nathwani">Amit Nathwani</name><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, University College London Cancer Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Neerman Arbez, Marguerite" sort="Neerman Arbez, Marguerite" uniqKey="Neerman Arbez M" first="Marguerite" last="Neerman-Arbez">Marguerite Neerman-Arbez</name><affiliation wicri:level="1"><nlm:aff id="aff41">Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Genetic Medicine and Development, University Medical Centre, Geneva</wicri:regionArea></affiliation></author><author><name sortKey="Nurden, Alan T" sort="Nurden, Alan T" uniqKey="Nurden A" first="Alan T." last="Nurden">Alan T. Nurden</name><affiliation wicri:level="1"><nlm:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac</wicri:regionArea></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation wicri:level="1"><nlm:aff id="aff42">Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac</wicri:regionArea></affiliation></author><author><name sortKey="Othman, Maha" sort="Othman, Maha" uniqKey="Othman M" first="Maha" last="Othman">Maha Othman</name><affiliation wicri:level="1"><nlm:aff id="aff43">Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Peerlinck, Kathelijne" sort="Peerlinck, Kathelijne" uniqKey="Peerlinck K" first="Kathelijne" last="Peerlinck">Kathelijne Peerlinck</name><affiliation wicri:level="1"><nlm:aff id="aff44">Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven</wicri:regionArea></affiliation></author><author><name sortKey="Perry, David J" sort="Perry, David J" uniqKey="Perry D" first="David J." last="Perry">David J. Perry</name><affiliation wicri:level="1"><nlm:aff id="aff29">Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Poudel, Pawan" sort="Poudel, Pawan" uniqKey="Poudel P" first="Pawan" last="Poudel">Pawan Poudel</name><affiliation wicri:level="1"><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer Research, London</wicri:regionArea></affiliation></author><author><name sortKey="Reitsma, Pieter" sort="Reitsma, Pieter" uniqKey="Reitsma P" first="Pieter" last="Reitsma">Pieter Reitsma</name><affiliation wicri:level="1"><nlm:aff id="aff46">Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Rondina, Matthew T" sort="Rondina, Matthew T" uniqKey="Rondina M" first="Matthew T." last="Rondina">Matthew T. Rondina</name><affiliation wicri:level="2"><nlm:aff id="aff47">University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Smethurst, Peter A" sort="Smethurst, Peter A" uniqKey="Smethurst P" first="Peter A." last="Smethurst">Peter A. Smethurst</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff id="aff35">Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Stevenson, William" sort="Stevenson, William" uniqKey="Stevenson W" first="William" last="Stevenson">William Stevenson</name><affiliation wicri:level="1"><nlm:aff id="aff48">Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff49">Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Kolling Institute of Medical Research, The University of Sydney, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Szkotak, Artur" sort="Szkotak, Artur" uniqKey="Szkotak A" first="Artur" last="Szkotak">Artur Szkotak</name><affiliation wicri:level="1"><nlm:aff id="aff50">Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta</wicri:regionArea></affiliation></author><author><name sortKey="Tuna, Salih" sort="Tuna, Salih" uniqKey="Tuna S" first="Salih" last="Tuna">Salih Tuna</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Van Geet, Christel" sort="Van Geet, Christel" uniqKey="Van Geet C" first="Christel" last="Van Geet">Christel Van Geet</name><affiliation wicri:level="1"><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer Research, London</wicri:regionArea></affiliation></author><author><name sortKey="Whitehorn, Deborah" sort="Whitehorn, Deborah" uniqKey="Whitehorn D" first="Deborah" last="Whitehorn">Deborah Whitehorn</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Wilcox, David A" sort="Wilcox, David A" uniqKey="Wilcox D" first="David A." last="Wilcox">David A. Wilcox</name><affiliation wicri:level="2"><nlm:aff id="aff51">Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Wisconsin</region></placeName><wicri:cityArea>Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee</wicri:cityArea></affiliation></author><author><name sortKey="Zhang, Bin" sort="Zhang, Bin" uniqKey="Zhang B" first="Bin" last="Zhang">Bin Zhang</name><affiliation wicri:level="2"><nlm:aff id="aff52">Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Revel Vilk, Shoshana" sort="Revel Vilk, Shoshana" uniqKey="Revel Vilk S" first="Shoshana" last="Revel-Vilk">Shoshana Revel-Vilk</name><affiliation wicri:level="1"><nlm:aff id="aff53">Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem</wicri:regionArea></affiliation></author><author><name sortKey="Gresele, Paolo" sort="Gresele, Paolo" uniqKey="Gresele P" first="Paolo" last="Gresele">Paolo Gresele</name><affiliation wicri:level="1"><nlm:aff id="aff24">Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia</wicri:regionArea></affiliation></author><author><name sortKey="Bellissimo, Daniel B" sort="Bellissimo, Daniel B" uniqKey="Bellissimo D" first="Daniel B." last="Bellissimo">Daniel B. Bellissimo</name><affiliation wicri:level="2"><nlm:aff id="aff54">Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Penkett, Christopher J" sort="Penkett, Christopher J" uniqKey="Penkett C" first="Christopher J." last="Penkett">Christopher J. Penkett</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation></author><author><name sortKey="Laffan, Michael A" sort="Laffan, Michael A" uniqKey="Laffan M" first="Michael A." last="Laffan">Michael A. Laffan</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London</nlm:aff><wicri:noCountry code="subfield">Imperial College London</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff8">Imperial College Healthcare National Health Service Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Imperial College Healthcare National Health Service Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Mumford, Andrew D" sort="Mumford, Andrew D" uniqKey="Mumford A" first="Andrew D." last="Mumford">Andrew D. Mumford</name><affiliation wicri:level="1"><nlm:aff id="aff12">School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Cellular and Molecular Medicine, University of Bristol, Bristol</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff55">School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>School of Clinical Sciences, University of Bristol, Bristol</wicri:regionArea></affiliation></author><author><name sortKey="Rendon, Augusto" sort="Rendon, Augusto" uniqKey="Rendon A" first="Augusto" last="Rendon">Augusto Rendon</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation wicri:level="1"><nlm:aff wicri:cut="; and" id="aff56">Genomics England Limited, London, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Genomics England Limited, London</wicri:regionArea></affiliation></author><author><name sortKey="Gomez, Keith" sort="Gomez, Keith" uniqKey="Gomez K" first="Keith" last="Gomez">Keith Gomez</name><affiliation wicri:level="1"><nlm:aff id="aff5">The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Haematology, University College London Cancer Institute, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Haematology, University College London Cancer Institute, London</wicri:regionArea></affiliation></author><author><name sortKey="Freson, Kathleen" sort="Freson, Kathleen" uniqKey="Freson K" first="Kathleen" last="Freson">Kathleen Freson</name><affiliation wicri:level="1"><nlm:aff id="aff45">Institute of Cancer Research, London, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Cancer Research, London</wicri:regionArea></affiliation></author><author><name sortKey="Ouwehand, Willem H" sort="Ouwehand, Willem H" uniqKey="Ouwehand W" first="Willem H." last="Ouwehand">Willem H. Ouwehand</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff57">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Turro, Ernest" sort="Turro, Ernest" uniqKey="Turro E" first="Ernest" last="Turro">Ernest Turro</name><affiliation wicri:level="4"><nlm:aff id="aff1">Department of Haematology, University of Cambridge,</nlm:aff><country>Royaume-Uni</country><placeName><settlement type="city">Cambridge</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Angleterre de l'Est</region></placeName><orgName type="university">Université de Cambridge</orgName></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff2">National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals</nlm:aff><wicri:noCountry code="subfield">Cambridge University Hospitals</wicri:noCountry></affiliation><affiliation wicri:level="1"><nlm:aff id="aff3">National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="aff13">Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge</wicri:regionArea></affiliation></author></analytic><series><title level="j">Blood</title><idno type="ISSN">0006-4971</idno><idno type="eISSN">1528-0020</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><bold>Publisher's Note:</bold> There is an <related-article id="d36e1066" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-04-703215">Inside <italic>Blood</italic> Commentary</related-article> on this article in this issue.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id><journal-id journal-id-type="iso-abbrev">Blood</journal-id><journal-id journal-id-type="hwp">bloodjournal</journal-id><journal-id journal-id-type="pmc">blood</journal-id><journal-id journal-id-type="publisher-id">Blood</journal-id><journal-title-group><journal-title>Blood</journal-title></journal-title-group><issn pub-type="ppub">0006-4971</issn><issn pub-type="epub">1528-0020</issn><publisher><publisher-name>American Society of Hematology</publisher-name><publisher-loc>Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27084890</article-id><article-id pub-id-type="pmc">5016734</article-id><article-id pub-id-type="publisher-id">2015/688267</article-id><article-id pub-id-type="doi">10.1182/blood-2015-12-688267</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>2</subject><subject>35</subject><subject>37</subject></subj-group><subj-group subj-group-type="heading"><subject>Plenary Paper</subject></subj-group><series-title>Thrombosis and Hemostasis</series-title></article-categories><title-group><article-title>A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Simeoni</surname><given-names>Ilenia</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Stephens</surname><given-names>Jonathan C.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hu</surname><given-names>Fengyuan</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Deevi</surname><given-names>Sri V. 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corresp="yes"><name><surname>Gomez</surname><given-names>Keith</given-names></name><xref ref-type="aff" rid="aff5">5</xref><xref ref-type="aff" rid="aff6">6</xref><xref ref-type="author-notes" rid="fn1">*</xref></contrib><contrib contrib-type="author"><name><surname>Freson</surname><given-names>Kathleen</given-names></name><xref ref-type="aff" rid="aff45">45</xref><xref ref-type="author-notes" rid="fn1">*</xref></contrib><contrib contrib-type="author"><name><surname>Ouwehand</surname><given-names>Willem H.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff57">57</xref><xref ref-type="author-notes" rid="fn1">*</xref></contrib><contrib contrib-type="author"><name><surname>Turro</surname><given-names>Ernest</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff13">13</xref><xref ref-type="author-notes" rid="fn1">*</xref></contrib><aff id="aff1"><label>1</label>Department of Haematology, University of Cambridge,</aff><aff id="aff2"><label>2</label>National Institute for Health Research BioResource–Rare Diseases, Cambridge University Hospitals, and</aff><aff id="aff3"><label>3</label>National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;</aff><aff id="aff4"><label>4</label>Laboratory of Lymphocyte Signalling and Development, Babraham Institute, Cambridge, United Kingdom;</aff><aff id="aff5"><label>5</label>The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London National Health Service Foundation Trust, London, United Kingdom;</aff><aff id="aff6"><label>6</label>Department of Haematology, University College London Cancer Institute, London, United Kingdom;</aff><aff id="aff7"><label>7</label>Centre for Haematology, Hammersmith Campus, Imperial College Academic Health Sciences Centre, Imperial College London, and</aff><aff id="aff8"><label>8</label>Imperial College Healthcare National Health Service Trust, London, United Kingdom;</aff><aff id="aff9"><label>9</label>Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA;</aff><aff id="aff10"><label>10</label>Department of Haematology, Barts Health National Health Service Trust, London, United Kingdom;</aff><aff id="aff11"><label>11</label>Department of Biochemistry, Maastricht University, Maastricht, The Netherlands;</aff><aff id="aff12"><label>12</label>School of Cellular and Molecular Medicine, University of Bristol, Bristol, United Kingdom;</aff><aff id="aff13"><label>13</label>Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, United Kingdom;</aff><aff id="aff14"><label>14</label>Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;</aff><aff id="aff15"><label>15</label>Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany;</aff><aff id="aff16"><label>16</label>School of Paediatrics and Child Health, The University of Western Australia, Crawley, Australia;</aff><aff id="aff17"><label>17</label>Western Australia Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia;</aff><aff id="aff18"><label>18</label>Office of Population Health Genomics, WA Department of Health, East Perth, Australia;</aff><aff id="aff19"><label>19</label>Institute of Immunology and Infectious Diseases, Murdoch University, Murdoch, Australia;</aff><aff id="aff20"><label>20</label>Telethon Kids Institute, Subiaco, Australia;</aff><aff id="aff21"><label>21</label>Hematological Research Institute, National Academy of Medicine, Buenos Aires, Argentina;</aff><aff id="aff22"><label>22</label>San Pietro Fatebenefratelli Hospital, Unita' Operativa Semplice Dipartimentale, Medical Genetics, Rome, Italy;</aff><aff id="aff23"><label>23</label>Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, PA;</aff><aff id="aff24"><label>24</label>Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;</aff><aff id="aff25"><label>25</label>Dipartimento di Scienze Della Salute, Università Degli Studi di Milano, Unità di Medicina, Azienda Ospedaliera San Paolo, Milan, Italy;</aff><aff id="aff26"><label>26</label>Arthur Bloom Haemophilia Centre, Institute of Infection and Immunity, School of Medicine, Cardiff University, Cardiff, United Kingdom;</aff><aff id="aff27"><label>27</label>Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;</aff><aff id="aff28"><label>28</label>Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA;</aff><aff id="aff29"><label>29</label>Department of Haematology, Addenbrooke’s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom;</aff><aff id="aff30"><label>30</label>Haemostasis Research Group, Department of Infection, Immunity and Cardiovascular Disease, Faculty of Medicine, Dentistry and Health, University of Sheffield, Sheffield, United Kingdom;</aff><aff id="aff31"><label>31</label>Department of Biochemistry, Cardiovascular Research Institute Maastricht, University of Maastricht, Maastricht, The Netherlands;</aff><aff id="aff32"><label>32</label>Department of Clinical Pathology, Empath Pathology Services, Nottingham University Hospitals National Health Service Trust, Nottingham, United Kingdom;</aff><aff id="aff33"><label>33</label>Cancer Research UK London Research Institute, London, United Kingdom;</aff><aff id="aff34"><label>34</label>Components Development Laboratory, National Health Service Blood and Transplant, Cambridge, United Kingdom;</aff><aff id="aff35"><label>35</label>Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;</aff><aff id="aff36"><label>36</label>Department of Haematology, Great Ormond Street Hospital for Children National Health Service Trust, London, United Kingdom;</aff><aff id="aff37"><label>37</label>Department of Haematology, Ninewells Hospital, Dundee, United Kingdom;</aff><aff id="aff38"><label>38</label>Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;</aff><aff id="aff39"><label>39</label>Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA;</aff><aff id="aff40"><label>40</label>Puget Sound Blood Center, Research Institute, Seattle, WA;</aff><aff id="aff41"><label>41</label>Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland;</aff><aff id="aff42"><label>42</label>Institut Hospitalo-Universitaire LIRYC, Hôpital Xavier Arnozan, Pessac, France;</aff><aff id="aff43"><label>43</label>Department of Biomedical and Molecular Sciences, School of Medicine, Queens University, Kingston, Ontario, Canada;</aff><aff id="aff44"><label>44</label>Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium;</aff><aff id="aff45"><label>45</label>Institute of Cancer Research, London, United Kingdom;</aff><aff id="aff46"><label>46</label>Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, The Netherlands;</aff><aff id="aff47"><label>47</label>University of Utah School of Medicine, Eccles Institute of Human Genetics, Salt Lake City, UT;</aff><aff id="aff48"><label>48</label>Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, St. Leonards, NSW, Australia;</aff><aff id="aff49"><label>49</label>Kolling Institute of Medical Research, The University of Sydney, Sydney, Australia;</aff><aff id="aff50"><label>50</label>Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada;</aff><aff id="aff51"><label>51</label>Children’s Hospital of Wisconsin Research Institute, Medical College of Wisconsin, Milwaukee, WI;</aff><aff id="aff52"><label>52</label>Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH;</aff><aff id="aff53"><label>53</label>Pediatric Hematology/Oncology Department, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;</aff><aff id="aff54"><label>54</label>Clinical Genomics Laboratory, University of Pittsburgh, Pittsburgh, PA;</aff><aff id="aff55"><label>55</label>School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;</aff><aff id="aff56"><label>56</label>Genomics England Limited, London, United Kingdom; and</aff><aff id="aff57"><label>57</label>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom</aff></contrib-group><author-notes><fn fn-type="equal" id="fn1"><label>*</label><p>K.G., K.F., W.H.O., and E.T. contributed equally to this study.</p></fn></author-notes><pub-date pub-type="ppub"><day>9</day><month>6</month><year>2016</year></pub-date><pub-date pub-type="epreprint"><day>15</day><month>4</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>9</day><month>6</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>127</volume><issue>23</issue><fpage>2791</fpage><lpage>2803</lpage><history><date date-type="received"><day>24</day><month>12</month><year>2015</year></date><date date-type="accepted"><day>07</day><month>4</month><year>2016</year></date></history><permissions><copyright-statement>© 2016 by The American Society of Hematology</copyright-statement><copyright-year>2016</copyright-year></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="2791.pdf"></self-uri><related-article id="d36e1055" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-03-378588">Lentaigne</related-article><related-article id="d36e1057" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2015-10-675629">Stritt</related-article><related-article id="d36e1059" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-04-703215">Rao</related-article><abstract abstract-type="teaser"><p><bold>Publisher's Note:</bold> There is an <related-article id="d36e1066" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2016-04-703215">Inside <italic>Blood</italic> Commentary</related-article> on this article in this issue.</p></abstract><abstract abstract-type="executive-summary"><title>Key Points</title><p><list list-type="bullet"><list-item><p>Developed a targeted sequencing platform covering 63 genes linked to heritable bleeding, thrombotic, and platelet disorders.</p></list-item><list-item><p>The ThromboGenomics platform provides a sensitive genetic test to obtain molecular diagnoses in patients with a suspected etiology.</p></list-item></list></p></abstract><abstract><p>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 unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically performed in a step-wise manner to control costs. This approach causes delays and a conclusive molecular diagnosis is often never reached, which can compromise treatment and impede rapid identification of affected relatives. To address this unmet diagnostic need, we designed a high-throughput sequencing platform targeting 63 genes relevant for BPDs. The platform can call single nucleotide variants, short insertions/deletions, and large copy number variants (though not inversions) which are subjected to automated filtering for diagnostic prioritization, resulting in an average of 5.34 candidate variants per individual. We sequenced 159 and 137 samples, respectively, from cases with and without previously known causal variants. Among the latter group, 61 cases had clinical and laboratory phenotypes indicative of a particular molecular etiology, whereas the remainder had an a priori highly uncertain etiology. All previously detected variants were recapitulated and, when the etiology was suspected but unknown or uncertain, a molecular diagnosis was reached in 56 of 61 and only 8 of 76 cases, respectively. The latter category highlights the need for further research into novel causes of BPDs. The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD.</p></abstract><counts><page-count count="13"></page-count></counts><custom-meta-group><custom-meta><meta-name>access</meta-name><meta-value>free</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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