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Page 1
LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.
Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. Burns SO, et al. Among authors: kumararatne d. J Allergy Clin Immunol. 2012 Dec;130(6):1428-32. doi: 10.1016/j.jaci.2012.07.035. Epub 2012 Sep 14. J Allergy Clin Immunol. 2012. PMID: 22981790 Free PMC article. No abstract available.
Genetically determined susceptibility to mycobacterial infection.
Patel SY, Doffinger R, Barcenas-Morales G, Kumararatne DS. Patel SY, et al. Among authors: kumararatne ds. J Clin Pathol. 2008 Sep;61(9):1006-12. doi: 10.1136/jcp.2007.051201. Epub 2008 Mar 6. J Clin Pathol. 2008. PMID: 18326015 Review.
Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency.
Bouma G, Doffinger R, Patel SY, Peskett E, Sinclair JC, Barcenas-Morales G, Cerron-Gutierrez L, Kumararatne DS, Davies EG, Thrasher AJ, Burns SO. Bouma G, et al. Br J Haematol. 2009 Oct;147(1):153-6. doi: 10.1111/j.1365-2141.2009.07838.x. Epub 2009 Aug 5. Br J Haematol. 2009. PMID: 19663824 Free article. No abstract available.
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S. Plagnol V, et al. Among authors: kumararatne d. Bioinformatics. 2012 Nov 1;28(21):2747-54. doi: 10.1093/bioinformatics/bts526. Epub 2012 Aug 31. Bioinformatics. 2012. PMID: 22942019 Free PMC article.
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.
Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S. Angulo I, et al. Among authors: kumararatne d. Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17. Science. 2013. PMID: 24136356 Free PMC article.
178 results