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Page 1
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R, Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL, Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ, Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW, Smith KGC. Rae W, et al. Among authors: coomber el. Sci Immunol. 2022 Aug 12;7(74):eabn3800. doi: 10.1126/sciimmunol.abn3800. Epub 2022 Aug 12. Sci Immunol. 2022. PMID: 35960817
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
Thomas DC, Charbonnier LM, Schejtman A, Aldhekri H, Coomber EL, Dufficy ER, Beenken AE, Lee JC, Clare S, Speak AO, Thrasher AJ, Santilli G, Al-Mousa H, Alkuraya FS, Chatila TA, Smith KGC. Thomas DC, et al. Among authors: coomber el. J Allergy Clin Immunol. 2019 Feb;143(2):782-785.e1. doi: 10.1016/j.jaci.2018.09.019. Epub 2018 Oct 9. J Allergy Clin Immunol. 2019. PMID: 30312704 Free PMC article.
IRF5 Promotes Influenza Virus-Induced Inflammatory Responses in Human Induced Pluripotent Stem Cell-Derived Myeloid Cells and Murine Models.
Forbester JL, Clement M, Wellington D, Yeung A, Dimonte S, Marsden M, Chapman L, Coomber EL, Tolley C, Lees E, Hale C, Clare S, Udalova I, Dong T, Dougan G, Humphreys IR. Forbester JL, et al. Among authors: coomber el. J Virol. 2020 Apr 16;94(9):e00121-20. doi: 10.1128/JVI.00121-20. Print 2020 Apr 16. J Virol. 2020. PMID: 32075938 Free PMC article.
Interleukin-22 promotes phagolysosomal fusion to induce protection against Salmonella enterica Typhimurium in human epithelial cells.
Forbester JL, Lees EA, Goulding D, Forrest S, Yeung A, Speak A, Clare S, Coomber EL, Mukhopadhyay S, Kraiczy J, Schreiber F, Lawley TD, Hancock REW, Uhlig HH, Zilbauer M, Powrie F, Dougan G. Forbester JL, et al. Among authors: coomber el. Proc Natl Acad Sci U S A. 2018 Oct 2;115(40):10118-10123. doi: 10.1073/pnas.1811866115. Epub 2018 Sep 14. Proc Natl Acad Sci U S A. 2018. PMID: 30217896 Free PMC article.
An African Salmonella Typhimurium ST313 sublineage with extensive drug-resistance and signatures of host adaptation.
Van Puyvelde S, Pickard D, Vandelannoote K, Heinz E, Barbé B, de Block T, Clare S, Coomber EL, Harcourt K, Sridhar S, Lees EA, Wheeler NE, Klemm EJ, Kuijpers L, Mbuyi Kalonji L, Phoba MF, Falay D, Ngbonda D, Lunguya O, Jacobs J, Dougan G, Deborggraeve S. Van Puyvelde S, et al. Among authors: coomber el. Nat Commun. 2019 Sep 19;10(1):4280. doi: 10.1038/s41467-019-11844-z. Nat Commun. 2019. PMID: 31537784 Free PMC article.
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR; DDD Study. Aitken S, et al. Am J Hum Genet. 2019 Nov 7;105(5):933-946. doi: 10.1016/j.ajhg.2019.09.015. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607427 Free PMC article.
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. De Rubeis S, et al. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Wright CF, et al. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529582 Free PMC article.
18 results