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119 results

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Page 1
Topoisomerase 2β mutation impairs early B-cell development.
Papapietro O, Chandra A, Eletto D, Inglott S, Plagnol V, Curtis J, Maes M, Alisaac A, Albuquerque AS, Basseres E, Hermine O, Picard C, Fischer A, Durandy A, Kracker S, Burns SO, Cuchet-Lourenco D, Okkenhaug K, Nejentsev S. Papapietro O, et al. Among authors: burns so. Blood. 2020 Apr 23;135(17):1497-1501. doi: 10.1182/blood.2019003299. Blood. 2020. PMID: 32128574 Free PMC 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: burns so. Bioinformatics. 2012 Nov 1;28(21):2747-54. doi: 10.1093/bioinformatics/bts526. Epub 2012 Aug 31. Bioinformatics. 2012. PMID: 22942019 Free PMC article.
Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.
Burns SO, Plagnol V, Gutierrez BM, Al Zahrani D, Curtis J, Gaspar M, Hassan A, Jones AM, Malone M, Rampling D, McLatchie A, Doffinger R, Gilmour KC, Henriquez F, Thrasher AJ, Gaspar HB, Nejentsev S. Burns SO, et al. J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27. J Allergy Clin Immunol. 2014. PMID: 24679846 Free PMC article. No abstract available.
Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.
Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO. Record J, et al. Among authors: burns so. Blood. 2015 Sep 24;126(13):1527-35. doi: 10.1182/blood-2014-12-611012. Epub 2015 Jul 29. Blood. 2015. PMID: 26224645 Free PMC article.
Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.
Chandra A, Zhang F, Gilmour KC, Webster D, Plagnol V, Kumararatne DS, Burns SO, Nejentsev S, Thrasher AJ. Chandra A, et al. Among authors: burns so. J Allergy Clin Immunol. 2016 Mar;137(3):940-2.e4. doi: 10.1016/j.jaci.2015.08.049. Epub 2015 Oct 31. J Allergy Clin Immunol. 2016. PMID: 26525228 Free PMC article. No abstract available.
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ. Coulter TI, et al. Among authors: burns so. J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27555459 Free PMC article.
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.
Eletto D, Burns SO, Angulo I, Plagnol V, Gilmour KC, Henriquez F, Curtis J, Gaspar M, Nowak K, Daza-Cajigal V, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S. Eletto D, et al. Among authors: burns so. Nat Commun. 2016 Dec 23;7:13992. doi: 10.1038/ncomms13992. Nat Commun. 2016. PMID: 28008925 Free PMC article.
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.
Hou TZ, Verma N, Wanders J, Kennedy A, Soskic B, Janman D, Halliday N, Rowshanravan B, Worth A, Qasim W, Baxendale H, Stauss H, Seneviratne S, Neth O, Olbrich P, Hambleton S, Arkwright PD, Burns SO, Walker LS, Sansom DM. Hou TZ, et al. Among authors: burns so. Blood. 2017 Mar 16;129(11):1458-1468. doi: 10.1182/blood-2016-10-745174. Epub 2017 Feb 3. Blood. 2017. PMID: 28159733 Free PMC article.
Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult.
Morris EC, Fox T, Chakraverty R, Tendeiro R, Snell K, Rivat C, Grace S, Gilmour K, Workman S, Buckland K, Butler K, Chee R, Salama AD, Ibrahim H, Hara H, Duret C, Mavilio F, Male F, Bushman FD, Galy A, Burns SO, Gaspar HB, Thrasher AJ. Morris EC, et al. Among authors: burns so. Blood. 2017 Sep 14;130(11):1327-1335. doi: 10.1182/blood-2017-04-777136. Epub 2017 Jul 17. Blood. 2017. PMID: 28716862 Free PMC article.
119 results