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

Blood

Volumn 127, Issue 23, 2016, Pages 2791-2803

  Simeoni, Ilenia ^a,b   Stephens, Jonathan C ^a,b,c   Hu, Fengyuan ^a,d   Deevi, Sri V V ^a,b   Megy, Karyn ^a,b   Bariana, Tadbir K ^e,f   Lentaigne, Claire ^g,h   Schulman, Sol ⁱ   Sivapalaratnam, Suthesh ^a,c,j   Vries, Minka J A ^k   Westbury, Sarah K ^l   Greene, Daniel ^a,b,m   Papadia, Sofia ^a,b   Alessi, Marie Christine ⁿ   Attwood, Antony P ^a,b,c   Ballmaier, Matthias ^o   Baynam, Gareth ^p,q,r,s,t   Bermejo, Emilse ^u   Bertoli, Marta ^v   Bray, Paul F ^w   Bury, Loredana ^x   Cattaneo, Marco ^y   Collins, Peter ^z   Daugherty, Louise C ^a,b   Favier, Rémi ^aa   French, Deborah L ^ab   Furie, Bruce ⁱ   Gattens, Michael ^ac   Germeshausen, Manuela ^o   Ghevaert, Cedric ^a,c   Goodeve, Anne C ^ad   Guerrero, Jose A ^a   Hampshire, Daniel J ^ad   Hart, Daniel P ^j   Heemskerk, Johan W M ^ae   Henskens, Yvonne M C ^k   Hill, Marian ^af   Hogg, Nancy ^ag   Jolley, Jennifer D ^c   Kahr, Walter H ^ah   Kelly, Anne M ^ai   Kerr, Ron ^aj   Kostadima, Myrto ^a,b   Kunishima, Shinji ^ak   Lambert, Michele P ^ab,al   Liesner, Ri ^aj   López, José A ^am   Mapeta, Rutendo P ^a,b   Mathias, Mary ^aj   Millar, Carolyn M ^g,h   Nathwani, Amit ^f   Neerman Arbez, Marguerite ^an   Nurden, Alan T ^ao   Nurden, Paquita ^ao   Othman, Maha ^ap   Peerlinck, Kathelijne ^aq   Perry, David J ^ac   Poudel, Pawan ^ar   Reitsma, Pieter ^as   Rondina, Matthew T ^at   Smethurst, Peter A ^a,ah   Stevenson, William ^au,av   Szkotak, Artur ^aw   Tuna, Salih ^a,b   Van Geet, Christel ^ar   Whitehorn, Deborah ^a,b   Wilcox, David A ^ax   Zhang, Bin ^ay   Revel Vilk, Shoshana ^az   Gresele, Paolo ^x   Bellissimo, Daniel B ^ba   Penkett, Christopher J ^a,b   Laffan, Michael A ^g,h   Mumford, Andrew D ^l   Rendon, Augusto ^a,bb   Gomez, Keith ^e,f   Freson, Kathleen ^ar   Ouwehand, Willem H ^a,b,c,bc   Turro, Ernest ^a,b,c,m   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c NHS BLOOD AND TRANSPLANT   (United Kingdom)

^d BABRAHAM INSTITUTE   (United Kingdom)

^e ROYAL FREE HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g IMPERIAL COLLEGE LONDON   (United Kingdom)

^h IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

^j BARTS HEALTH NHS TRUST   (United Kingdom)

^k MAASTRICHT UNIVERSITY   (Netherlands)

^l UNIVERSITY OF BRISTOL   (United Kingdom)

^m UNIVERSITY OF CAMBRIDGE   (United Kingdom)

ⁿ INSERM   (France)

^o HANNOVER MEDICAL SCHOOL   (Germany)

^p UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^q KING EDWARD MEMORIAL HOSPITAL   (Australia)

^r Office of Population Health Genomics   (Australia)

^s MURDOCH UNIVERSITY   (Australia)

^t UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^u ACADEMIA NACIONAL DE MEDICINA   (Argentina)

^v FATEBENEFRATELLI HOSPITAL   (Italy)

^w THOMAS JEFFERSON UNIVERSITY   (United States)

^x UNIVERSITY OF PERUGIA   (Italy)

^y UNIVERSITY OF MILAN   (Italy)

^z CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^aa ARMAND TROUSSEAU HOSPITAL   (France)

^ab CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^ac ADDENBROOKE S HOSPITAL   (United Kingdom)

^ad UNIVERSITY OF SHEFFIELD   (United Kingdom)

^ae MAASTRICHT UNIVERSITY   (Netherlands)

^af NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^ag IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^ah HOSPITAL FOR SICK CHILDREN   (Canada)

^ai GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^aj NINEWELLS HOSPITAL   (United Kingdom)

^ak NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^al UNIVERSITY OF PENNSYLVANIA   (United States)

^am PUGET SOUND BLOOD CENTER   (United States)

^an GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^ao Ctr Geriatrie Ctr Hosp Univ B   (France)

^ap QUEEN S UNIVERSITY   (Canada)

^aq UNIVERSITY OF LEUVEN   (Belgium)

^ar INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^as LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^at UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^au ROYAL NORTH SHORE HOSPITAL   (Australia)

^av UNIVERSITY OF SYDNEY   (Australia)

^aw UNIVERSITY OF ALBERTA   (Canada)

^ax Cleveland Clinic Lerner Research Institute ^*  (United States)

^ay LERNER RESEARCH INSTITUTE   (United States)

^az HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^ba UNIVERSITY OF PITTSBURGH   (United States)

^bb GENOMICS ENGLAND   (United Kingdom)

^bc WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLEEDING; GENE SEQUENCE; GENE TARGETING; GENETIC VARIATION; HEALTH CARE COST; HIGH THROUGHPUT SEQUENCING; HUMAN; INDEL MUTATION; MOLECULAR DIAGNOSIS; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; THROMBOCYTE DISORDER; THROMBOSIS; CASE CONTROL STUDY; COPY NUMBER VARIATION; DNA SEQUENCE; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

BLOOD PLATELET DISORDERS; CASE-CONTROL STUDIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEMORRHAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; THROMBOSIS;

EID: 84993990664     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-12-688267     Document Type: Article

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