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

Year Number of Results
2002 2
2003 3
2004 4
2005 1
2006 10
2007 1
2008 3
2009 2
2010 2
2011 3
2012 6
2013 6
2014 9
2015 5
2016 4
2017 1
2018 1
2019 7
2020 5
2021 5
2022 3
2023 2
2024 0

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75 results

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Page 1
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.
Nguyen T, Lau A, Bier J, Cooke KC, Lenthall H, Ruiz-Diaz S, Avery DT, Brigden H, Zahra D, Sewell WA, Droney L, Okada S, Asano T, Abolhassani H, Chavoshzadeh Z, Abraham RS, Rajapakse N, Klee EW, Church JA, Williams A, Wong M, Burkhart C, Uzel G, Croucher DR, James DE, Ma CS, Brink R, Tangye SG, Deenick EK. Nguyen T, et al. Among authors: church ja. J Exp Med. 2023 Jun 5;220(6):e20221020. doi: 10.1084/jem.20221020. Epub 2023 Mar 21. J Exp Med. 2023. PMID: 36943234 Free PMC article.
Multiplexed Functional Assessment of Genetic Variants in CARD11.
Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, Camp ND, Torgerson TR, Nickerson DA, Bamshad MJ, Hagin D, Luthers CR, Stinson JR, Gray J, Lundgren I, Church JA, Butte MJ, Jordan MB, Aceves SS, Schwartz DM, Milner JD, Schuval S, Skoda-Smith S, Cooper MA, Starita LM, Rawlings DJ, Snow AL, James RG. Meitlis I, et al. Among authors: church ja. Am J Hum Genet. 2020 Dec 3;107(6):1029-1043. doi: 10.1016/j.ajhg.2020.10.015. Epub 2020 Nov 16. Am J Hum Genet. 2020. PMID: 33202260 Free PMC article.
Treatment of STAT3-deficient hyper-immunoglobulin E syndrome with monoclonal antibodies targeting allergic inflammation.
James AE, West L, Schloss K, Nataraj P, Urban A, Hirsch A, Krausz M, Kumar S, Raasch J, Risma K, Church JA, Grimbacher B, Bergerson JRE, Chong H, Freeman AF. James AE, et al. Among authors: church ja. J Allergy Clin Immunol Pract. 2022 May;10(5):1367-1370.e1. doi: 10.1016/j.jaip.2022.01.011. Epub 2022 Jan 24. J Allergy Clin Immunol Pract. 2022. PMID: 35085810 No abstract available.
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Fliegauf M, Kinnunen M, Posadas-Cantera S, Camacho-Ordonez N, Abolhassani H, Alsina L, Atschekzei F, Bogaert DJ, Burns SO, Church JA, Dückers G, Freeman AF, Hammarström L, Hanitsch LG, Kerre T, Kobbe R, Sharapova SO, Siepermann K, Speckmann C, Steiner S, Verma N, Walter JE, Westermann-Clark E, Goldacker S, Warnatz K, Varjosalo M, Grimbacher B. Fliegauf M, et al. Among authors: church ja. Front Immunol. 2022 Aug 29;13:965326. doi: 10.3389/fimmu.2022.965326. eCollection 2022. Front Immunol. 2022. PMID: 36105815 Free PMC article.
CADINS in an Adult with Chronic Sinusitis and Atopic Disease.
Izadi N, Bauman BM, Dabbah G, Thauland TJ, Butte MJ, Snow AL, Church JA. Izadi N, et al. Among authors: church ja. J Clin Immunol. 2021 Jan;41(1):256-258. doi: 10.1007/s10875-020-00893-5. Epub 2020 Oct 15. J Clin Immunol. 2021. PMID: 33057950 No abstract available.
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Staufner C, et al. Among authors: church ja. Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25. Genet Med. 2020. PMID: 31761904 Free article.
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, Ma Z, Condori J, Dowdy J, Triplett B, Li C, Maron G, Aldave Becerra JC, Church JA, Dokmeci E, Love JT, da Matta Ain AC, van der Watt H, Tang X, Janssen W, Ryu BY, De Ravin SS, Weiss MJ, Youngblood B, Long-Boyle JR, Gottschalk S, Meagher MM, Malech HL, Puck JM, Cowan MJ, Sorrentino BP. Mamcarz E, et al. Among authors: church ja. N Engl J Med. 2019 Apr 18;380(16):1525-1534. doi: 10.1056/NEJMoa1815408. N Engl J Med. 2019. PMID: 30995372 Free PMC article. Clinical Trial.
75 results