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

Year Number of Results
1972 1
1973 1
1975 1
1983 2
1984 1
1989 1
2001 1
2002 2
2003 1
2004 1
2009 1
2010 2
2011 3
2012 3
2013 1
2014 1
2015 2
2016 4
2017 5
2018 12
2019 4
2020 13
2021 11
2022 11
2023 7
2024 4

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82 results

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Page 1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Cardiometabolic Traits, Sepsis, and Severe COVID-19: A Mendelian Randomization Investigation.
Ponsford MJ, Gkatzionis A, Walker VM, Grant AJ, Wootton RE, Moore LSP, Fatumo S, Mason AM, Zuber V, Willer C, Rasheed H, Brumpton B, Hveem K, Kristian Damås J, Davies N, Åsvold BO, Solligård E, Jones S, Burgess S, Rogne T, Gill D. Ponsford MJ, et al. Circulation. 2020 Nov 3;142(18):1791-1793. doi: 10.1161/CIRCULATIONAHA.120.050753. Epub 2020 Sep 23. Circulation. 2020. PMID: 32966752 Free PMC article. No abstract available.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Are we underestimating seroprevalence of SARS-CoV-2?
Burgess S, Ponsford MJ, Gill D. Burgess S, et al. Among authors: ponsford mj. BMJ. 2020 Sep 3;370:m3364. doi: 10.1136/bmj.m3364. BMJ. 2020. PMID: 32883673 Free PMC article. No abstract available.
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. 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.
The interplay between inflammatory cytokines and cardiometabolic disease: bi-directional mendelian randomisation study.
Karhunen V, Gill D, Huang J, Bouras E, Malik R, Ponsford MJ, Ahola-Olli A, Papadopoulou A, Palaniswamy S, Sebert S, Wielscher M, Auvinen J, Veijola J, Herzig KH, Timonen M, Keinänen-Kiukaanniemi S, Dichgans M, Salmi M, Jalkanen S, Lehtimäki T, Salomaa V, Raitakari O, Jones SA, Hovingh GK, Tsilidis KK, Järvelin MR, Dehghan A. Karhunen V, et al. Among authors: ponsford mj. BMJ Med. 2023 Feb 14;2(1):e000157. doi: 10.1136/bmjmed-2022-000157. eCollection 2023. BMJ Med. 2023. PMID: 36936266 Free PMC article.
Clozapine-associated secondary antibody deficiency.
Ponsford MJ, Pecoraro A, Jolles S. Ponsford MJ, et al. Curr Opin Allergy Clin Immunol. 2019 Dec;19(6):553-562. doi: 10.1097/ACI.0000000000000592. Curr Opin Allergy Clin Immunol. 2019. PMID: 31567398 Review.
Testing for antibodies to SARS-CoV-2.
Gill D, Ponsford MJ. Gill D, et al. Among authors: ponsford mj. BMJ. 2020 Nov 11;371:m4288. doi: 10.1136/bmj.m4288. BMJ. 2020. PMID: 33315587 No abstract available.
Atopic manifestations of inborn errors of immunity.
Sams L, Wijetilleka S, Ponsford M, Gennery A, Jolles S. Sams L, et al. Among authors: ponsford m. Curr Opin Allergy Clin Immunol. 2023 Dec 1;23(6):478-490. doi: 10.1097/ACI.0000000000000943. Epub 2023 Sep 26. Curr Opin Allergy Clin Immunol. 2023. PMID: 37755421 Free PMC article. Review.
Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?
Ponsford MJ, Klocperk A, Pulvirenti F, Dalm VASH, Milota T, Cinetto F, Chovancova Z, Rial MJ, Sediva A, Litzman J, Agostini C, van Hagen M, Quinti I, Jolles S. Ponsford MJ, et al. Allergy. 2018 Nov;73(11):2122-2136. doi: 10.1111/all.13578. Epub 2018 Oct 2. Allergy. 2018. PMID: 30043993 Review.
82 results