The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

被引：31

作者：

Homan, Claire C. ^{[1
,2
,3
]}

King-Smith, Sarah L. ^{[1
,2
,3
]}

Lawrence, David M. ^{[1
,2
,3
,4
]}

Arts, Peer ^{[1
,2
,3
]}

Feng, Jinghua ^{[2
,3
,4
]}

Andrews, James ^{[1
,2
,3
]}

Armstrong, Mark ^{[1
,2
,3
]}

Ha, Thuong ^{[1
,2
,3
]}

Dobbins, Julia ^{[1
,2
,3
]}

Drazer, Michael W. ^{[5
,6
,7
]}

Yu, Kai ^{[8
]}

Bodor, Csaba ^{[9
]}

Cantor, Alan ^{[10
,11
]}

Cazzola, Mario ^{[12
,13
]}

Degelman, Erin ^{[14
]}

DiNardo, Courtney D. ^{[15
]}

Duployez, Nicolas ^{[16
,17
]}

Favier, Remi ^{[18
]}

Frohling, Stefan ^{[19
,20
,21
]}

Fitzgibbon, Jude ^{[22
]}

Klco, Jeffery M. ^{[23
]}

Kramer, Alwin ^{[24
,25
]}

Kurokawa, Mineo ^{[26
]}

Lee, Joanne ^{[27
]}

Malcovati, Luca ^{[12
,13
]}

Morgan, Neil V. ^{[28
]}

Natsoulis, Georges ^{[29
]}

Owen, Carolyn ^{[14
]}

Patel, Keyur P. ^{[15
]}

Preudhomme, Claude ^{[16
,17
]}

Raslova, Hana ^{[30
]}

Rienhoff, Hugh ^{[29
]}

Ripperger, Tim ^{[31
]}

Schulte, Rachael ^{[32
]}

Tawana, Kiran ^{[33
]}

Velloso, Elvira ^{[34
,35
,36
,37
]}

Yan, Benedict ^{[27
]}

Liu, Paul ^{[8
]}

Godley, Lucy A. ^{[5
,6
,7
]}

Schreiber, Andreas W. ^{[2
,3
,4
,38
]}

Hahn, Christopher N. ^{[1
,2
,3
,39
]}

Scott, Hamish S. ^{[1
,2
,3
,38
,39
]}

Brown, Anna L. ^{[1
,2
,3
,39
]}

机构：

[1] SA Pathol, Dept Genet & Mol Pathol, Adelaide, SA, Australia

[2] SA Pathol, Ctr Canc Biol, Adelaide, SA, Australia

[3] Univ South Australia, Adelaide, SA, Australia

[4] SA Pathol, Australian Canc Res Fdn ACRF Canc Genom Facil, Ctr Canc Biol, Adelaide, SA, Australia

[5] Ctr Clin Canc Genet, Dept Med, Sect Hematol Oncol, Chicago, IL USA

[6] Ctr Clin Canc Genet, Dept Human Genet, Sect Hematol Oncol, Chicago, IL USA

[7] Univ Chicago, Ctr Comprehens Canc, Chicago, IL 60637 USA

[8] NHGRI, NIH, Bethesda, MD 20892 USA

[9] Semmelweis Univ, Dept Pathol & Expt Canc Res 1, HCEMM SE Mol Oncohematol Res Grp, Budapest, Hungary

[10] Harvard Med Sch, Boston Childrens Hosp, Div Hematol Oncol, Boston, MA 02115 USA

[11] Harvard Med Sch, Dana Farber Canc Inst, Boston, MA 02115 USA

[12] Univ Pavia, Dept Mol Med, Pavia, Italy

[13] Fdn IRCCS Policlin San Matteo, Dept Hematol Oncol, Pavia, Italy

[14] Foothills Med Ctr, Div Hematol & Hematol Malignancies, Calgary, AB, Canada

[15] Univ Texas MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA

[16] Ctr Hosp Reg Univ Lille, Biol & Pathol Ctr, Lab Hematol, Lille, France

[17] Univ Lille, Jean Pierre Aubert Res Ctr, INSERM, Lille, France

[18] Armand Trousseau Childrens Hosp, AP HP, Paris, France

[19] Natl Ctr Tumor Dis NCT, Dept Translat Med Oncol, Heidelberg, Germany

[20] German Canc Res Ctr, Heidelberg, Germany

[21] German Canc Consortium DKTK, Heidelberg, Germany

[22] Queen Mary Univ London, Barts Canc Inst, Ctr Haematooncol, London, England

[23] St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA

[24] Heidelberg Univ, Clin Cooperat Unit Mol Hematol Oncol, German Canc Res Ctr DKFZ, Heidelberg, Germany

[25] Heidelberg Univ, Dept Internal Med 5, Heidelberg, Germany

[26] Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan

[27] Natl Univ Hlth Syst, Natl Univ Canc Inst, Dept Haematol Oncol, Singapore, Singapore

[28] Univ Birmingham, Coll Med & Dent Sci, Inst Cardiovasc Sci, Birmingham, W Midlands, England

[29] Imago Biosci Inc, San Francisco, CA USA

[30] Univ Paris Sud, Inst Gustave Roussy, Equipe Labellisee Ligue Natl Canc, Villejuif, France

[31] Hannover Med Sch, Dept Human Genet, Hannover, Germany

[32] Vanderbilt Univ, Med Ctr, Monroe Carell Jr Childrens Hosp, Div Pediat Hematol & Oncol,Dept Pediat, Nashville, TN 37232 USA

[33] Addenbrookes Hosp Cambridge, Dept Haematol, Cambridge CB2 0QQ, England

[34] Univ Sao Paulo, Med Sch, Serv Hematol Transfus & Cell Therapy, Sao Paulo, Brazil

[35] Univ Sao Paulo, Med Sch, Lab Med Invest Pathogenesis, Sao Paulo, Brazil

[36] Univ Sao Paulo, Med Sch, Directed Therapy Oncoimmunohematol LIM 31 HCFMUS, Sao Paulo, Brazil

[37] Hosp Israelita Albert Einstein, Genet Lab, Sao Paulo, Brazil

[38] Univ Adelaide, Sch Biol Sci, Adelaide, SA, Australia

[39] Univ Adelaide, Sch Med, Adelaide, SA, Australia

来源：

HAEMATOLOGICA | 2021年 / 106卷 / 11期

基金：

英国医学研究理事会;

关键词：

JOINT-CONSENSUS-RECOMMENDATION; SEQUENCE VARIANTS; ASSOCIATION; GUIDELINES; STANDARDS; COLLEGE;

D O I：

10.3324/haematol.2021.278762

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：3004 / 3007

页数：4