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

Year Number of Results
2002 3
2003 5
2004 2
2005 3
2006 7
2007 10
2008 6
2009 10
2010 9
2011 8
2012 13
2013 19
2014 13
2015 22
2016 14
2017 18
2018 15
2019 23
2020 20
2021 32
2022 27
2023 22
2024 10

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275 results

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Page 1
TLR7 gain-of-function genetic variation causes human lupus.
Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, López CA, Gónzalez-Murillo Á, Garulo DC, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, de Lucas Collantes C, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG. Brown GJ, et al. Among authors: cook mc. Nature. 2022 May;605(7909):349-356. doi: 10.1038/s41586-022-04642-z. Epub 2022 Apr 27. Nature. 2022. PMID: 35477763 Free PMC article.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: cook mc. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: cook m. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
HOUR Prediction Rule.
Koons A, Cannon R, Beauchamp G, Katz K, Cook M, Surmaitis R. Koons A, et al. Among authors: cook m. Acad Emerg Med. 2019 Oct;26(10):1201-1202. doi: 10.1111/acem.13769. Epub 2019 May 23. Acad Emerg Med. 2019. PMID: 31002439 Free article. No abstract available.
A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation.
Garnish SE, Martin KR, Kauppi M, Jackson VE, Ambrose R, Eng VV, Chiou S, Meng Y, Frank D, Tovey Crutchfield EC, Patel KM, Jacobsen AV, Atkin-Smith GK, Di Rago L, Doerflinger M, Horne CR, Hall C, Young SN, Cook M, Athanasopoulos V, Vinuesa CG, Lawlor KE, Wicks IP, Ebert G, Ng AP, Slade CA, Pearson JS, Samson AL, Silke J, Murphy JM, Hildebrand JM. Garnish SE, et al. Among authors: cook m. Nat Commun. 2023 Sep 28;14(1):6046. doi: 10.1038/s41467-023-41724-6. Nat Commun. 2023. PMID: 37770424 Free PMC article.
Tattoo-associated uveitis.
Pandya VB, Hooper CY, Essex RW, Cook M. Pandya VB, et al. Among authors: cook m. Am J Ophthalmol. 2014 Dec;158(6):1355-6. doi: 10.1016/j.ajo.2014.09.006. Epub 2014 Nov 18. Am J Ophthalmol. 2014. PMID: 25457706 No abstract available.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN. Stark Z, et al. Among authors: cook m. Am J Hum Genet. 2023 Mar 2;110(3):419-426. doi: 10.1016/j.ajhg.2023.01.018. Am J Hum Genet. 2023. PMID: 36868206 Free PMC article. Review.
Extrafollicular antibody responses.
MacLennan IC, Toellner KM, Cunningham AF, Serre K, Sze DM, Zúñiga E, Cook MC, Vinuesa CG. MacLennan IC, et al. Among authors: cook mc. Immunol Rev. 2003 Aug;194:8-18. doi: 10.1034/j.1600-065x.2003.00058.x. Immunol Rev. 2003. PMID: 12846803 Review.
The Toxicology Investigators Consortium 2022 Annual Report.
Amaducci AM, Campleman SL, Li S, Karshenas DL, Spyres MB, Farrugia LA, Kang AM, Culbreth RE, Wax PM, Brent J, Aldy K; Toxicology Investigators Consortium Study Group. Amaducci AM, et al. J Med Toxicol. 2023 Oct;19(4):313-340. doi: 10.1007/s13181-023-00962-2. Epub 2023 Aug 29. J Med Toxicol. 2023. PMID: 37644342
275 results