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Year Number of Results
2012 1
2013 1
2014 2
2015 2
2016 1
2018 2
2020 1
2024 0

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9 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. Blood. 2020 Apr 23;135(17):1497-1501. doi: 10.1182/blood.2019003299. Blood. 2020. PMID: 32128574 Free PMC article. No abstract available.
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. Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19. Science. 2018. PMID: 30026316 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. 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.
Beijing clades of Mycobacterium tuberculosis are associated with differential survival in HIV-negative Russian patients.
Balabanova Y, Nikolayevskyy V, Ignatyeva O, Kontsevaya I, Mironova S, Kovalyov A, Kritsky A, Rodionova Y, Fedorin I, Casali N, Hooper R, Horstmann RD, Nejentsev S, Hoffner S, Nuernberg P, Drobniewski F. Balabanova Y, et al. Infect Genet Evol. 2015 Dec;36:517-523. doi: 10.1016/j.meegid.2015.08.028. Epub 2015 Aug 28. Infect Genet Evol. 2015. PMID: 26319998
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.
Evolution and transmission of drug-resistant tuberculosis in a Russian population.
Casali N, Nikolayevskyy V, Balabanova Y, Harris SR, Ignatyeva O, Kontsevaya I, Corander J, Bryant J, Parkhill J, Nejentsev S, Horstmann RD, Brown T, Drobniewski F. Casali N, et al. Nat Genet. 2014 Mar;46(3):279-86. doi: 10.1038/ng.2878. Epub 2014 Jan 26. Nat Genet. 2014. PMID: 24464101 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. Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17. Science. 2013. PMID: 24136356 Free PMC article.
Common variants at 11p13 are associated with susceptibility to tuberculosis.
Thye T, Owusu-Dabo E, Vannberg FO, van Crevel R, Curtis J, Sahiratmadja E, Balabanova Y, Ehmen C, Muntau B, Ruge G, Sievertsen J, Gyapong J, Nikolayevskyy V, Hill PC, Sirugo G, Drobniewski F, van de Vosse E, Newport M, Alisjahbana B, Nejentsev S, Ottenhoff TH, Hill AV, Horstmann RD, Meyer CG. Thye T, et al. Nat Genet. 2012 Feb 5;44(3):257-9. doi: 10.1038/ng.1080. Nat Genet. 2012. PMID: 22306650 Free PMC article.