A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
第一作者:
Simeoni, Ilenia
作者:
Simeoni, Ilenia [1]
;
Stephens, Jonathan C. [2]
;
Hu, Fengyuan [3]
;
Deevi, Sri V. V. [4]
;
Megy, Karyn [5]
;
Bariana, Tadbir K. [6]
;
Lentaigne, Claire [7]
;
Schulman, Sol [8]
;
Sivapalaratnam, Suthesh [9]
;
Vries, Minka J. A. [10]
;
Westbury, Sarah K. [11]
;
Greene, Daniel [12]
;
Papadia, Sofia [13]
;
Alessi, Marie-Christine [14]
;
Attwood, Antony P. [15]
;
Ballmaier, Matthias [16]
;
Baynam, Gareth [17]
;
Bermejo, Emilse [18]
;
Bertoli, Marta [19]
;
Bray, Paul F. [20]
;
Bury, Loredana [21]
;
Cattaneo, Marco [22]
;
Collins, Peter [23]
;
Daugherty, Louise C. [24]
;
Favier, Remi [25]
;
French, Deborah L. [26]
;
Furie, Bruce [27]
;
Gattens, Michael [28]
;
Germeshausen, Manuela [29]
;
Ghevaert, Cedric [30]
;
Goodeve, Anne C. [31]
;
Guerrero, Jose A. [32]
;
Hampshire, Daniel J. [33]
;
Hart, Daniel P. [34]
;
Heemskerk, Johan W. M. [35]
;
Henskens, Yvonne M. C. [36]
;
Hill, Marian [37]
;
Hogg, Nancy [38]
;
Jolley, Jennifer D. [39]
;
Kahr, Walter H. [40]
;
Kelly, Anne M. [41]
;
Kerr, Ron [42]
;
Kostadima, Myrto [43]
;
Kunishima, Shinji ;
Lambert, Michele P. ;
Liesner, Ri ;
Lopez, Jose A. ;
Mapeta, Rutendo P. ;
Mathias, Mary ;
Millar, Carolyn M. ;
Nathwani, Amit ;
Neerman-Arbez, Marguerite ;
Nurden, Alan T. ;
Nurden, Paquita ;
Othman, Maha ;
Peerlinck, Kathelijne ;
Perry, David J. ;
Poudel, Pawan ;
Reitsma, Pieter ;
Rondina, Matthew T. ;
Smethurst, Peter A. ;
Stevenson, William ;
Szkotak, Artur ;
Tuna, Salih ;
van Geet, Christel ;
Whitehorn, Deborah ;
Wilcox, David A. ;
Zhang, Bin ;
Revel-Vilk, Shoshana ;
Gresele, Paolo ;
Bellissimo, Daniel B. ;
Penkett, Christopher J. ;
Laffan, Michael A. ;
Mumford, Andrew D. ;
Rendon, Augusto ;
Gomez, Keith ;
Freson, Kathleen ;
Ouwehand, Willem H. ;
Turro, Ernest
作者单位:
Barts Hlth Natl Hlth Serv Trust, Dept Haematol, London, England
[1]
Univ Perugia, Dept Internal Med, Sect Internal & Cardiovasc Med, I-06100 Perugia, Italy
[2]
Univ Toronto, Hosp Sick Children, Dept Paediat, Div Haematol Oncol, Toronto, ON M5G 1X8, Canada
[3]
Queens Univ, Sch Med, Dept Biomed & Mol Sci, Kingston, ON, Canada
[4]
Hop Xavier Arnozan, Inst Hosp Univ LIRYC, Pessac, France
[5]
Royal N Shore Hosp, Dept Haematol & Transfus Med, St Leonards, NSW 2065, Australia
[6]
Univ Milan, Azienda Osped San Paolo, Dipartimento Sci Salute, Unita Med, Milan, Italy
[7]
Univ Bristol, Sch Cellular & Mol Med, Bristol, Avon, England
[8]
Maastricht Univ, Dept Biochem, NL-6200 MD Maastricht, Netherlands
[9]
Ctr Med Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland
[10]
Hadassah Hebrew Univ, Med Ctr, Pediat Hematol Oncol Dept, Jerusalem, Israel
[11]
Univ London Imperial Coll Sci Technol & Med, Imperial Coll Acad Hlth Sci Ctr, Ctr Haematol
[12]
Hannover Med Sch, Pediat Hematol & Oncol, Hannover, Germany
[13]
Canc Res UK London Res Inst, London WC2A 3PX, England
[14]
Cleveland Clin, Lerner Res Inst, Genom Med Inst, Cleveland, OH 44106 USA
[15]
Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
[16]
Ninewells Hosp, Dept Haematol, Dundee DD1 9SY, Scotland
[17]
Univ Alberta, Lab Med & Pathol, Edmonton, AB, Canada
[18]
San Pietro Fatebenefratelli Hosp, Unita Operat Semplice Dipartimentale, Med Genet, Rome, Italy
[19]
Cambridge Biomed Campus, Cambridge Univ Hosp Natl Hlth Serv Fdn Trust, Addenbrookes Hosp, Dept
[20]
Nottingham Univ Hosp Natl Hlth Serv Trust, Dept Clin Pathol, Empath Pathol Serv, Nottingham, England
[21]
Univ Cambridge, Dept Haematol, Long Rd, Cambridge CB2 0PT, England
[22]
Armand Trousseau Children Hosp, Hop Paris, Inserm U1170, Assistance Publ, Villejuif, France
[23]
Puget Sound Blood Ctr, Res Inst, Seattle, WA 98104 USA
[24]
Thomas Jefferson Univ, Jefferson Med Coll, Dept Med, Philadelphia, PA 19107 USA
[25]
Univ Western Australia, Sch Paediat & Child Hlth, Crawley, Australia
[26]
Natl Acad Med, Hematol Res Inst, Buenos Aires, DF, Argentina
[27]
Natl Hlth Serv Blood & Transplant, Components Dev Lab, Cambridge, England
[28]
Univ Utah, Sch Med, Eccles Inst Human Genet, Salt Lake City, UT USA
[29]
Univ Pittsburgh, Clin Genom Lab, Pittsburgh, PA USA
[30]
Fac Med Marseille, INSERM, F-13385 Marseille, France
[31]
Royal Free London Natl Hlth Serv Fdn Trust, Katharine Dormandy Haemophilia Ctr, London, England
[32]
Maastricht Univ, Cardiovasc Res Inst Maastricht, Dept Biochem, NL-6200 MD Maastricht, Netherlands
[33]
UCL, Inst Canc, Dept Haematol, London, England
[34]
Cardiff Univ, Sch Med, Inst Infect & Immun, Arthur Bloom Haemophilia Ctr, Cardiff CF10 3AX, S Glam
[35]
Inst Canc Res, London SW3 6JB, England
[36]
Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium
[37]
Med Coll Wisconsin, Childrens Hosp Wisconsin, Res Inst, Milwaukee, WI 53226 USA
[38]
Beth Israel Deaconess Med Ctr, Div Hemostasis & Thrombosis, Boston, MA 02215 USA
[39]
Univ Sheffield, Fac Med Dent & Hlth, Dept Infect Immun & Cardiovasc Dis, Haemostasis Res Grp
[40]
Nagoya Med Ctr, Natl Hosp Org, Clin Res Ctr, Nagoya, Aichi, Japan
[41]
Great Ormond St Hosp Children Natl Hlth Serv Trus, Dept Haematol, London, England
[42]
Leiden Univ, Med Ctr, Einthoven Lab Expt Vasc Med, Leiden, Netherlands
[43]
发布时间
2017-04-06
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Blood
Blood
2791-2803页
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