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List of publications from CBR-supported research studies acknowledging the Cambridge BioResource


Davies, Jessica L., Thompson, Sara, Kaur-Sandhu, Harpreet, Sawcer, Stephen, Coles, Alasdair, Ban, Maria, Jones, Joanne. (2016) Increased THEMIS First Exon Usage in CD4+ T-Cells Is Associated with a Genotype that Is Protective against Multiple Sclerosis. PLOS ONE. July 20, 2016.

Carr EJ, Dooley J, Garcia-Perez JE, Lagou V, Lee JC, Wouters C, Meyts I, Goris A, Boeckxstaens G, Linterman MA, Liston A. (2016) The cellular composition of the human immune system is shaped by ageing and cohabitation. Nat Immunol. 2016 Apr;17(4):461-8. doi: 10.1038/ni.3371. Epub 2016 Feb 15.

Sleigh, Alison, Lupson, Victoria, Thankamony, Ajay, Dunger, David B., Savage, David B., Carpenter, T. Adrian, Kemp, Graha, J. (2016) Simple and effective exercise design for assessing in vivo mitochondrial function in clinical applications using 31P magnetic resonance spectroscopy. Scientific Reports, 2016 Jan 11;6:19057. doi: 10.1038/srep19057; published online 11 January 2016

Lachmann P. J., Lay E., Seilly D. J., Buchberger A., Schwaeble W., Khadake J. (2016) Further studies of the down-regulation by Factor I of the C3b feedback cycle using endotoxin as a soluble activator and red cells as a source of CR1 on sera of different complotype. The Journal of Translational Immunology, Jan 2016, 183(1), 150-156, doi: 10.1111/cei.12714; published online 5 November 2015


Bell, C.J., Sun, Y., Nowak, U.M., Clark, J., Howlett, S., Pekalski, M.L., Yang, X., Ast, O., Waldhauer, I., Freimoser-Grundschober, A., Moessner, E., Umana, P., Klein, C., Hosse, R.J., Wicker, L.S,, Peterson, L.B. (2015). Sustained in vivo signaling by long-lived IL-2 induces prolonged increases of regulatory T cells. J Autoimmun. Jan; 56:66-80. doi: 10.1016/j.jaut.2014.10.002. Epub 2014 Oct 30.

Dopico, X.C., Evangelou, M., Ferreira, R.C., Guo, H., Pekalski, M.L., Smyth, D.J., Cooper, N., Burren, O.S., Fulford, A.J., Hennig, BJ.., Prentice, A.M., Ziegler, A.G., Bonifacio, E., Wallace, C., Todd, J.A. (2015). Widespread seasonal gene expression reveals annual differences in human immunity and physiology. Nat Commun. May 12;6:7000. doi: 10.1038/ncomms8000.

Heywood, J., Evangelou, M., Goymer, D., Kennet, J., Anselmiova, K., Guy, C., O'Brien, C., Nutland, S., Brown, J., Walker, N.M., Todd, J.A., Waldron-Lynch, F. (2015). Effective recruitment of participants to a phase I study using the internet and publicity releases through charities and patient organisations: analysis of the adaptive study of IL-2 dose on regulatory T cells in type 1 diabetes (DILT1D). Trials. Mar 11; 16(1):86. doi: 10.1186/s13063-015-0583-7.

Liley, J., Wallace, C. (2015). A pleiotropy-informed Bayesian false discovery rate adapted to a shared control design finds new disease associations from GWAS summary statistics. PLoS Genet. Feb 6; 11(2):e1004926. doi: 10.1371/journal.pgen.1004926. eCollection 2015.


Clatworthy, M.R., Harford, S.K., Mathews, R.J., Smith, K.G. (2014). FcgRIIb inhibits immune complex-induced VEGF-A production and intranodal lymphangiogenesis. Proc Natl Acad Sci USA, 111(50), 17971-17976. doi:10.1073/pnas.1413915111

Downes, K., Marcovecchio, M. L., Clarke, P., Cooper, J. D., Ferreira, R. C., Howson, J. M. M., Jolley, J., Nutland, S., Stevens, H.E., Walker, N.M., Wallace, C., Dunger, D.B., Todd, J. A. (2014). Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients. Diabetologia, 57(2), 366-372. doi:10.1007/s00125-013-3113-8

Eisenegger, C., Naef, M., Linssen, A., Clark, L., Gandamaneni, P.K., Muller, U., Robbins, T.W. (2014). Role of Dopamine D2 Receptors in Human Reinforcement Learning. Neuropsychopharmacology, 39, 2366-2375. doi:10.1038/npp.2014.84; published online 7 May 2014

Esposito, L., Hunter, K. M. D., Clark, J., Rainbow, D. B., Stevens, H., Denesha, J., Duley, S., Dawson, S., Coleman, G., Nutland, S., Bell, G.L., Moran, C., Pekalski, M., Todd, J.A., Wicker, L. S. (2014). Investigation of Soluble and Transmembrane CTLA-4 Isoforms in Serum and Microvesicles. The Journal of Immunology Author Choice, 193(2), 889-900. doi:10.4049/jimmunol.1303389.

Evangelou, M., Smyth, D. J., Fortune, M. D., Burren, O. S., Walker, N. M., Guo, H., Onengut-Gumuscu, S., Chen,W.M., Concannon, P., Rich, S.S., Todd, J.A., Wallace, C. (2014). A Method for Gene-Based Pathway Analysis Using Genomewide Association Study Summary Statistics Reveals Nine New Type 1 Diabetes Associations. Genetic Epidemiology, 38(8), 661-670. doi:10.1002/gepi.21853.

Ferreira, R. C., Guo, H., Coulson, R. M. R., Smyth, D. J., Pekalski, M. L., Burren, O. S., Cutler, A.J., Doecke, J.D., Flint, S., McKinney, E.F., Lyons, P.A., Smith, K.G.C., Achenbach, P., Beyerlein, A., Dunger, B.B., Clayton, D.G., Wicker, L.S., Todd, J.A., Bonifacio, E., Wallace, C., Ziegler, A.-G. (2014). A type I interferon transcriptional signature precedes autoimmunity in children genetically at-risk of type 1 diabetes. Diabetes, 63(7), 2538-2550. doi:10.2337/db13-1777.

Kennedy, N.A., Walker, A.W., Berry, S.H., Lamb, C.A., Lewis, S., Mansfield, J., Parkes, M., Parkhill, J., Probert, C., Read, D., Satsangi, J., Simpkins, R., Tomlinson, D., Tremelling, M., Nutland, S., Hold, G.L., Lees, C.W., UK IBD Genetics Consortium. (2014). The Impact of NOD2 variants on gut microbiota in Crohn's Disease and healthy controls. Gut, 63:A159-A160 doi:10.1136/gutjnl-2014-307263.342.

Lay, E., Nutland, S., Smith, J.E., Hiles, I., Smith, R.A.G., Seilly, D.J., Buchberger, A., Schwaeble, W., Lachmann, P.J. (2014) Complotype affects the extent of down-regulation by Factor I of the C3b feedback cycle in-vitro. Clin Exp Immunol. 2014. doi:10.1111/cei.12437

Thompson, W. S., Pekalski, M. L., Simons, H. Z., Smyth, D. J., Castro-Dopico, X., Guo, H., Guy, C., Dunger, D.B., Arif, S., Peakman, M., Wallace, C., Wicker, L.S., Todd, J.A., Ferreira, R. C. (2014). Multi-parametric flow cytometric and genetic investigation of the peripheral B cell compartment in human type 1 diabetes. Clinical and Experimental Immunology, 177(3), 571-585. doi:10.1111/cei.12362


Di Meglio, P., Villanova, F., Napolitano, L., Tosi, I., Terranova Barberio, M., Mak, R.K., Nutland, S., Smith, C.H., Barker, J.N.W.N., Todd, J.A., Nestle, F. O. (2013). The IL23R A/Gln381 Allele Promotes IL-23 Unresponsiveness in Human Memory T-Helper 17 Cells and Impairs Th17 Responses in Psoriasis Patients. The Journal of Investigative Dermatology, 133(10), 2381-2389. doi:10.1038/jid.2013.170

Ferreira, R. C., Freitag, D. F., Cutler, A. J., Howson, J. M. M., Rainbow, D. B., Smyth, D. J., Kaptoge, S., Clarke, P., Boreham, C., Coulson, R.M., Pekalski, M.L., Chen, W.M., Onengut-Gumuscu, S., Rich, S.S., Butterworth, A.S., Malarstig, A., Danesh, J., Todd, J. A. (2013). Functional IL6R 358Ala Allele Impairs Classical IL-6 Receptor Signaling and Influences Risk of Diverse Inflammatory Diseases. PLoS Genetics, 9(4), e1003444. doi:10.1371/journal.pgen.1003444

Gregersen, P.K., Manjarrez-Orduno, N. (2013) FOXO in the Hole: Leveraging GWAS for Outcome and Function. Cell, 155(1) 11-12. doi:10.1016/j.cell.2013.08.050

Hunt, K.A., Mistry, V., Bockett, N.A., Ahmed, T., Ban, M., Barker, J.N., Barrett, J.C., Blackburn, H., Brand, O., Capon, F., Compston, A., Gough, S.C.L., Jostins, L., Kong, Y., Lee, J.C., Lek, M., MacArthur, D.G., Mansfield, J.C., Mathew, C.G., Mein, C.A., Mirza, M., Nutland, S., onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S.C., Sawcer, S., Satsangi, J., Simmonds, M.J., Trembath, R.C., Walker, N.M., Wozniak, E., Todd, J.A., Simpson, M.A., Plagnol, V. & van Heel, D.A. (2013) Negligible impact on missing heritability of autoimmune-locus rare coding-region variants. Nature, 498(7453):232-235. doi:10.1038/nature12170.

Lee, J.c., Espeli, M., Anderson, C.A., Linterman, M.A., Pocock, J.M., Williams, N.J., Roberts, R., Viatte, S., Fu, B., Peshu, N., Hien, T.T., Phu, N.H., Wesley, E., Edwards, C., Ahmad, T., Mansfield, J.C., Gearry, R., Dunstan, S., Willisams, T.N., Barton, A., Vinuesa, C.G., UK IBD Genetics Consortium, Parkes, M., Lyons, P.A., Smith, K.G.C. (2013). Human SNP Links Differential Outcomes in Inflammatory and Infectious Disease to a FOXO3-Regulated Pathway. Cell, 155(1), 57-69. doi:10.1016/j.cell.2013.08.034

Pekalski, M.L., Ferreira, R.C., Coulson, R.M.R., Cutler, A.J., Guo, H., Smyth, D., Downes, K., Dendrou, C.A., Castro-Dopico, X., Esposito, L., Coleman, G., Stevens, H., Nutland, S., Walker, N.M., Guy, C., Dunger, D.B., Wallace, C., Tree, T.I.M., Todd, J.A. & Wicker, L.S. (2013) Post-thymic expansion in human CD4 naive T cells defined by expression of functional high affinity IL-2 receptors. J Immunol. 190 (6), 2554-2566. doi:10.4049/jimmunol.1202914.


Albers, C.A., Paul, D.S., Schulze, H., Freson, K., Stephens, J.C., Smethurst, P.A., Jolley, J.J., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M.H., Debili, N., Deloukas, P., Favier, R., Fiedler J., Hobbs, C.M., Huang, N., Hurles, M.E., Kiddle, G., Krapels, I., Nurden, P., Ruivenkamp, C.A.L., Sambrook, J.G., Smith, K., Stemple, D.L., Strauss, G., Thys, C., van Geet, C., Newbury-Ecob*, R., Ouwehand*, W.H. & Ghevaert*, C. (2012) Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR. Nature Genetics Nat Genet. 2012 February 26; 44(4): 435-S2. doi:10.1038/ng.1083.

Garg, G., Tyler, J.R., Yang, J.H.M., Cutler, A.J., Downes, K., Pekalski, M., Bell, G.L., Nutland, S., Peakman, M., Todd, J.A., Wicker, L.S. & Tree, T.I.M. (2012) Type 1 diabetes-associated IL2RA variation lowers IL-2 signaling and contributes to diminished CD4+ CD25+ regulatory T cell function. J Immunol. Prepublished online 28 March 2012; doi:10.4049/jimmunol.1100272.

Wallace, C., Rotival, M., Cooper, J.D., Rice, C.M., Yang, J.H.M., McNeill, M., Smyth, D.J., Niblett, D., Cambien, F., The Cardiogenics Consortium, Tiret, L., Todd, J.A., Clayton, D.G. & Blankenberg, S. (2012) Statistical colocalisation of monocyte gene expression and genetic risk variants for type 1 diabetes. Hum Mol Genet. advanced online publication 10.1093/hmg/dds098.


Hunt, K.A., Smyth, D.J., Balschun, T., Ban, M., Mistry, V., Ahmad, T., Anand, V., Barrett, J.C., Bhaw-Rosun, L., Bockett, N.A., Brand, O.J., Brouwer, E., Concannon, P., Cooper, J.D., Dias, K.M., van Diemen, C.C., Dubois, P.C., Edkins, S., F�lster-Holst, R., Fransen, K., Glass, D.N., Heap, G.A.R., Hofmann, S., Huizinga, T.W.J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Marrosu, M.G., Mathew, C.G., Mein, C.A., M�ller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N.J., Posthumus, M.D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M.J., Sudman, M., Thompson, S.D., Toes, R., Trynka, G., Vyse, T.J., Walker, N.M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Type 1 Diabetes Genetics Consortium, UK Inflammatory Bowel Disease (IBD) Genetics Consortium , Wellcome Trust Case Control Consortium , Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S.S., Todd, J.A. & van Heel, D.A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nat Genet. Published online: 27 December 2011, doi:10.1038/ng.1037

Lo, B., Swafford, A.D., Shafer-Weaver, K.A., Jerome, L.F., Rakhlin, L., Mathern, D.R., Callahan, C.A., Jiang, P., Davison, L.J., Stevens, H.E., Lucas, C.L., White, J., von Borstel, R., Todd, J.A. & Lenardo, M.J. (2011) Antibodies against insulin measured by electrochemiluminiscence predicts insulitis severity and disease onset in non-obese diabetic mice and can distinguish human type 1 diabetes status. J Transl Med. 9 (1), 203.

Swafford, A., Howson, J., Davison, L.J., Wallace, C., Smyth, D.J., Schuilenburg, H., Maisuria-Armer, M., Mistry, T., Lenardo, M.J. & Todd, J.A. (2011) An allele of IKZF1 (IKAROS) conferring susceptibility to childhood acute lymphoblastic leukemia protects against type 1 diabetes. Diabetes, 60 (3), 1041-1044.

Yang, J.H., Downes, K., Howson, J.M., Nutland, S., Stevens, H.E., Walker, N.M. & Todd, J.A. (2011) Evidence of association with type 1 diabetes in the SLC11A1 gene region. BMC Medical Genetics. Published online: 27 April 2011, doi:10.1186/1471-2350-12-59


Dhami, P., Saffrey, P., Bruce, A.W., Dillon, S.C., Chiang, K., Bonhoure, N., Koch, C.M., Bye, J., James, K., Foad, N.S., Ellis, P., Watkins, N.A., Ouwehand, W.H., Langford, C., Andrews, R.M., Dunham, I. & Vetrie, D. (2010) Complex exon-intron marking by histone modifications is not determined solely by nucleosome distribution. PLoS ONE. 5, e12339.

Downes, K., Pekalski, M., Angus, K.L., Hardy, M., Nutland, S., Smyth, D.J., Walker, N.M., Wallace, C. & Todd, J.A. (2010) Reduced Expression of IFIH1 Is Protective for Type 1 Diabetes. PLoS ONE. 5(9): e12646. doi:10.1371/journal.pone.0012646

Goodall, A.H., Burns, P., Salles, I., Macaulay, I.C., Jones, C.I., Ardissino, D., de Bono, B., Bray, S.L., Deckmyn, H., Dudbridge, F., Fitzgerald, D.J., Garner, S.F., Gusnanto, A., Koch, K., Langford, C., O'Connor, M.N., Rice, C.M., Stemple, D., Stephens, J., Trip, M.D., Zwaginga, J.J., Samani, N.J., Watkins, N.A., Maguire, P.B. & Ouwehand, W.H. (2010) Transcription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function. Blood. 116, 4646-4656.

Heap, G.A., Yang, J.H.M., Downes, K., Healy, B.C., Hunt, K.A., Bockett, N., Franke, L., Dubois, P.C., Mein, C.A., Dobson, R.J., Albert, T.J., Rodesch, M.J., Clayton, D.G., Todd, J.A., van Heel, D.A. & Plagnol, V. (2010) Genome-wide analysis of allelic expression imbalance in human primary cells by high throughput transcriptome resequencing. Hum. Mol. Genet. (2010) 19 (1): 122-134. doi:10.1093/hmg/ddp473

Von dem Hagen, E.A.H., Passamonti, L., Nutland, S., Sambrook, J. & Calder, A.J. (2010) The serotonin transporter gene polymorphism and the effect of baseline on amygdala response to emotional faces. Neuropsychologia (2011). doi:10.1016/j.neuropsychologia.2010.12.013


Dendrou, C.A., Fung, E., Esposito, L., Todd, J.A., Wicker, L.S. & Plagnol, V. (2009) Fluorescence Intensity Normalisation: Correcting for Time Effects in Large-Scale Flow Cytometric Analysis. Advances in Bioinformatics. vol. 2009, Article ID 476106, doi:10.1155/2009/476106.

Dendrou, C.A., Plagnol, V., Fung, E., Yang, J.H., Downes, K., Cooper, J.D., Nutland, S., Coleman, G., Himsworth, M., Hardy, M., Burren, O., Healy, B., Walker, N.M., Koch, K., Ouwehand, W.H., Bradley, J.R., Wareham, N.J., Todd, J.A. & Wicker, L.S. (2009) Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource. Nature Genetics. 41, 1011-1015.

Gregersen, P.K. (2009) Closing the gap between genotype and phenotype. Nature Genetics. 41, 958 - 959, doi:10.1038/ng0909-958

Holbrook, L., Watkins, N.A., Simmonds, A.D., Jones, C.I., Ouwehand, W.H. & Gibbins, J.M. (2009) Platelets release novel thiol isomerase enzymes which are recruited to the cell surface following activation. British Journal of Haematology. Vol 148, Issue 4: 8

Jones, C.I., Bray, S., Garner, S.F., Stephens, J., de Bono, B., Angenent, W.G., Bentley, D., Burns, P., Coffey, A., Deloukas, P., Earthrowl, M., Farndale, R.W., Hoylaerts, M.F., Koch, K., Rankin, A., Rice, C.M., Rogers, J., Samani, N.J., Steward, M., Walker, A., Watkins, N.A., Akkerman, J.W., Dudbridge, F., Goodall, A.H. & Ouwehand, W.H. (2009) A functional genomics approach reveals novel quantitative trait loci associated with platelet signalling pathways. Blood. 2009 Aug 13;114(7):1286-7.

Meisinger, C., Prokisch, H., Gieger, C., Soranzo, N., Mehta, D., Rosskopf, D., Lichtner, P., Klopp, N., Stephens, J., Watkins, N.A., Deloukas, P., Greinacher, A., Koenig, W., Nauck, M., Rimmbach, C., Volzke, H., Peters, A., Illig, T., Ouwehand, W.H., Meitinger, T., Wichmann, H.E. & Doring, A. (2009) A genome-wide association study identifies three loci associated with mean platelet volume. Am J Hum Genet. 84, 66-71.

Soranzo, N., Rendon, A., Gieger, C., Jones, C.I., Watkins, N.A., Menzel, S., Doring, A., Stephens, J., Prokisch, H., Erber, W., Potter, S.C., Bray, S.L., Burns, P., Jolley, J., Falchi, M., Kuhnel, B., Erdmann, J., Schunkert, H., Samani, N.J., Illig, T., Garner, S.F., Rankin, A., Meisinger, C., Bradley, J.R., Thein, S.L., Goodall, A.H., Spector, T.D., Deloukas, P. & Ouwehand, W.H. (2009) A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. Blood. 113, 3831-3837.

Soranzo, N., Rivadeneira, F., Chinappen-Horsley, U., Malkina, I., Richards, J.B., Hammond, N., Stolk, L., Nica, A., Inouye, M., Hofman, A., Stephens, J., Wheeler, E., Arp, P., Gwilliam, R., Jhamai, P.M., Potter, S., Chaney, A., Ghori, M.J.R., Ravindrarajah, R., Ermakov, S., Estrada, K., Pols, H.A.P., Williams, F.M., McArdle, W.L., van Meurs, J.B., Loos, R.J.F., Dermitzakis, E.T., Ahmadi, K.R., Hart, D.J., Ouwehand, W.H., Wareham, N.J., Barroso, I., Sandhu, M.S., Strachan, D.P., Livshits, G., Spector, T.D., Uitterlinden, A.G. & Deloukas, P. (2009) Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size. PLoS Genet. 5(4): e1000445. doi:10.1371/journal.pgen.1000445

Soranzo, N., Spector, T.D., Mangino, M., Kuhnel, B., Rendon, A., Teumer, A., Willenborg, C., Wright, B., Chen, L., Li, M., Salo, P., Voight, B.F., Burns, P., Laskowski, R.A., Xue, Y., Menzel, S., Altshuler, D., Bradley, J.R., Bumpstead, S., Burnett, M.S., Devaney, J., Doring, A., Elosua, R., Epstein, S.E., Erber, W., Falchi, M., Garner, S.F., Ghori, M.J., Goodall, A.H, Gwilliam, R., Hakonarson, H.H., Hall, A.S., Hammond, N., Hengstenberg, C., Illig, T., Konig, I.R., Knouff, C.W., McPherson, R., Melander, O., Mooser, V., Nauck, M., Nieminen, M.S., O'Donnell, C.J., Peltonen, L., Potter, S.C., Prokisch, H., Rader, D.J., Rice, C.M., Roberts, R., Salomaa, V., Sambrook, J., Schreiber, S., Schunkert, H., Schwartz, S.M., Serbanovic-Canic, J., Sinisalo, J., Siscovick, D.S., Stark, K., Surakka, I., Stephens, J., Thompson, J.R., Volker, U., Volzke, H., Watkins, N.A., Wells, G.A., Wichmann, H.E., Van Heel, D.A., Tyler-Smith, C., Thein, S.L., Kathiresan, S., Perola, M., Reilly, M.P., Stewart, A.F., Erdmann, J., Samani, N.J., Meisinger, C., Greinacher, A., Deloukas, P., Ouwehand, W.H. & Gieger, C. (2009) A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet. Published online: 11 October 2009, doi:10.1038/ng.467

Watkins, N.A., Gusnanto, A., de Bono, B., De, S., Miranda-Saavedra, D., Hardie, D.L., Angenent, W.G., Attwood, A.P., Ellis, P.D., Erber, W., Foad, N.S., Garner, S.F., Isacke, C.M., Jolley, J., Koch, K., Macaulay, I.C., Morley, S.L., Rendon, A., Rice, K.M., Taylor, N., Thijssen-Timmer, D.C., Tijssen, M.R., van der Schoot, C.E., Wernisch, L., Winzer, T., Dudbridge, F., Buckley, C.D., Langford, C.F., Teichmann, S., Gottgens, B. & Ouwehand, W.H. (2009) A HaemAtlas: characterizing gene expression in differentiated human blood cells. Blood. 113, e1-9.

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