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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: nejentsev s. 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: nejentsev s. Bioinformatics. 2012 Nov 1;28(21):2747-54. doi: 10.1093/bioinformatics/bts526. Epub 2012 Aug 31. Bioinformatics. 2012. PMID: 22942019 Free PMC article.
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: nejentsev s. 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.
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: nejentsev s. Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17. Science. 2013. PMID: 24136356 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. Among authors: nejentsev s. 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.
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome.
Kracker S, Curtis J, Ibrahim MA, Sediva A, Salisbury J, Campr V, Debré M, Edgar JD, Imai K, Picard C, Casanova JL, Fischer A, Nejentsev S, Durandy A. Kracker S, et al. Among authors: nejentsev s. J Allergy Clin Immunol. 2014 Jul;134(1):233-6. doi: 10.1016/j.jaci.2014.02.020. Epub 2014 Apr 1. J Allergy Clin Immunol. 2014. PMID: 24698326 Free PMC article. No abstract available.
Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.
Curtis J, Luo Y, Zenner HL, Cuchet-Lourenço D, Wu C, Lo K, Maes M, Alisaac A, Stebbings E, Liu JZ, Kopanitsa L, Ignatyeva O, Balabanova Y, Nikolayevskyy V, Baessmann I, Thye T, Meyer CG, Nürnberg P, Horstmann RD, Drobniewski F, Plagnol V, Barrett JC, Nejentsev S. Curtis J, et al. Among authors: nejentsev s. Nat Genet. 2015 May;47(5):523-527. doi: 10.1038/ng.3248. Epub 2015 Mar 16. Nat Genet. 2015. PMID: 25774636 Free PMC article.
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: nejentsev s. 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: nejentsev s. 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 and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.
Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S. Elkaim E, et al. Among authors: nejentsev s. J Allergy Clin Immunol. 2016 Jul;138(1):210-218.e9. doi: 10.1016/j.jaci.2016.03.022. Epub 2016 Apr 21. J Allergy Clin Immunol. 2016. PMID: 27221134 Free article.
85 results