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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz BH, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise AM, Goldsmith J, Thompson B, Engelhardt KR, Cant AJ, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa CA, Devoto M, Maas RL, Behrens EM, Giraudo CG, Snapper SB. Ouahed J, et al. Among authors: thompson b. J Crohns Colitis. 2021 Nov 8;15(11):1908-1919. doi: 10.1093/ecco-jcc/jjab077. J Crohns Colitis. 2021. PMID: 33891011 Free PMC article.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Duncan CJA, et al. Among authors: thompson bj. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
Delayed induction of type I and III interferons mediates nasal epithelial cell permissiveness to SARS-CoV-2.
Hatton CF, Botting RA, Dueñas ME, Haq IJ, Verdon B, Thompson BJ, Spegarova JS, Gothe F, Stephenson E, Gardner AI, Murphy S, Scott J, Garnett JP, Carrie S, Powell J, Khan CMA, Huang L, Hussain R, Coxhead J, Davey T, Simpson AJ, Haniffa M, Hambleton S, Brodlie M, Ward C, Trost M, Reynolds G, Duncan CJA. Hatton CF, et al. Among authors: thompson bj. Nat Commun. 2021 Dec 7;12(1):7092. doi: 10.1038/s41467-021-27318-0. Nat Commun. 2021. PMID: 34876592 Free PMC article.
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan CJA, Skouboe MK, Howarth S, Hollensen AK, Chen R, Børresen ML, Thompson BJ, Stremenova Spegarova J, Hatton CF, Stæger FF, Andersen MK, Whittaker J, Paludan SR, Jørgensen SE, Thomsen MK, Mikkelsen JG, Heilmann C, Buhas D, Øbro NF, Bay JT, Marquart HV, de la Morena MT, Klejka JA, Hirschfeld M, Borgwardt L, Forss I, Masmas T, Poulsen A, Noya F, Rouleau G, Hansen T, Zhou S, Albrechtsen A, Alizadehfar R, Allenspach EJ, Hambleton S, Mogensen TH. Duncan CJA, et al. J Exp Med. 2022 Jun 6;219(6):e20212427. doi: 10.1084/jem.20212427. Epub 2022 Apr 20. J Exp Med. 2022. PMID: 35442417 Free PMC article.
Challenges in assessing the efficacy of systemic corticosteroids for severe wheezing episodes in preschool children.
Guilbert TW, Bacharier LB, Mauger DT, Phipatanakul W, Szefler SJ, Boehmer S, Beigelman A, Fitzpatrick AM, Jackson DJ, Baxi SN, Benson M, Burnham CD, Cabana MD, Castro M, Chmiel JF, Covar R, Daines M, Gaffin JM, Gentile DA, Holguin F, Israel E, Kelly HW, Lazarus SC, Lemanske RF Jr, Ly N, Meade K, Morgan W, Moy J, Olin JT, Peters SP, Pongracic JA, Raissy HH, Ross K, Sheehan WJ, Sorkness C, Teague WG, Thyne S, Martinez FD; National Heart, Lung, and Blood Institute's AsthmaNet. Guilbert TW, et al. J Allergy Clin Immunol. 2019 May;143(5):1934-1937.e4. doi: 10.1016/j.jaci.2018.10.071. Epub 2019 Jan 17. J Allergy Clin Immunol. 2019. PMID: 30660645 Free PMC article.
Neonatal Hypoglycemia and Neurocognitive Function at School Age: A Prospective Cohort Study.
Wei X, Franke N, Alsweiler JM, Brown GTL, Gamble GD, McNeill A, Rogers J, Thompson B, Turuwhenua J, Wouldes TA, Harding JE, McKinlay CJD; pre-hPOD Early School-age Outcomes Study Group. Wei X, et al. Among authors: thompson b. J Pediatr. 2024 May 28:114119. doi: 10.1016/j.jpeds.2024.114119. Online ahead of print. J Pediatr. 2024. PMID: 38815750 Free article.
3,615 results