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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 2
2006 2
2007 6
2008 5
2009 2
2010 1
2011 1
2012 5
2013 1
2014 3
2015 4
2016 6
2017 2
2018 6
2019 4
2020 2
2021 1
2022 1
2023 1
2024 1

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52 results

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Page 1
PI3Kδ and primary immunodeficiencies.
Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K. Lucas CL, et al. Among authors: nejentsev s. Nat Rev Immunol. 2016 Nov;16(11):702-714. doi: 10.1038/nri.2016.93. Epub 2016 Sep 12. Nat Rev Immunol. 2016. PMID: 27616589 Free PMC article. Review.
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.
Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.
Michalovich D, Nejentsev S. Michalovich D, et al. Among authors: nejentsev s. Front Immunol. 2018 Feb 27;9:369. doi: 10.3389/fimmu.2018.00369. eCollection 2018. Front Immunol. 2018. PMID: 29535736 Free PMC article. Review.
Topoisomerase 2β and DNA topology during B cell development.
Papapietro O, Nejentsev S. Papapietro O, et al. Among authors: nejentsev s. Front Immunol. 2022 Aug 15;13:982870. doi: 10.3389/fimmu.2022.982870. eCollection 2022. Front Immunol. 2022. PMID: 36045673 Free PMC article.
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.
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordström D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppänen MRJ. Göös H, et al. Among authors: nejentsev s. J Allergy Clin Immunol. 2019 Nov;144(5):1364-1376. doi: 10.1016/j.jaci.2019.06.003. Epub 2019 Jun 13. J Allergy Clin Immunol. 2019. PMID: 31201888 Free PMC article.
Reevaluation of SNP heritability in complex human traits.
Speed D, Cai N; UCLEB Consortium; Johnson MR, Nejentsev S, Balding DJ. Speed D, et al. Among authors: nejentsev s. Nat Genet. 2017 Jul;49(7):986-992. doi: 10.1038/ng.3865. Epub 2017 May 22. Nat Genet. 2017. PMID: 28530675 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: nejentsev s. Nat Commun. 2016 Dec 23;7:13992. doi: 10.1038/ncomms13992. Nat Commun. 2016. PMID: 28008925 Free PMC article.
Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.
Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S. Cuchet-Lourenço D, et al. Among authors: nejentsev s. Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19. Science. 2018. PMID: 30026316 Free PMC article.
52 results