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

Year Number of Results
2007 2
2008 3
2010 1
2011 1
2012 2
2013 3
2015 2
2016 2
2017 1
2018 3
2019 3
2020 5
2021 3
2022 4
2023 2
2024 0

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34 results

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Page 1
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.
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.
Rhodes CJ, Batai K, Bleda M, Haimel M, Southgate L, Germain M, Pauciulo MW, Hadinnapola C, Aman J, Girerd B, Arora A, Knight J, Hanscombe KB, Karnes JH, Kaakinen M, Gall H, Ulrich A, Harbaum L, Cebola I, Ferrer J, Lutz K, Swietlik EM, Ahmad F, Amouyel P, Archer SL, Argula R, Austin ED, Badesch D, Bakshi S, Barnett C, Benza R, Bhatt N, Bogaard HJ, Burger CD, Chakinala M, Church C, Coghlan JG, Condliffe R, Corris PA, Danesino C, Debette S, Elliott CG, Elwing J, Eyries M, Fortin T, Franke A, Frantz RP, Frost A, Garcia JGN, Ghio S, Ghofrani HA, Gibbs JSR, Harley J, He H, Hill NS, Hirsch R, Houweling AC, Howard LS, Ivy D, Kiely DG, Klinger J, Kovacs G, Lahm T, Laudes M, Machado RD, MacKenzie Ross RV, Marsolo K, Martin LJ, Moledina S, Montani D, Nathan SD, Newnham M, Olschewski A, Olschewski H, Oudiz RJ, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Rehman Z, Robbins I, Roden DM, Rosenzweig EB, Saydain G, Scelsi L, Schilz R, Seeger W, Shaffer CM, Simms RW, Simon M, Sitbon O, Suntharalingam J, Tang H, Tchourbanov AY, Thenappan T, Torres F, Toshner MR, Treacy CM, Vonk Noordegraaf A, Waisfisz Q, Walsworth AK, Walter RE, Wharton J, White RJ, Wilt J, Wort SJ, Yung D, Lawrie A, Humbert M, Sou… See abstract for full author list ➔ Rhodes CJ, et al. Among authors: toshner mr. Lancet Respir Med. 2019 Mar;7(3):227-238. doi: 10.1016/S2213-2600(18)30409-0. Epub 2018 Dec 5. Lancet Respir Med. 2019. PMID: 30527956 Free PMC article.
Natural history of chronic thromboembolic pulmonary disease with no or mild pulmonary hypertension.
Reddy SA, Swietlik EM, Robertson L, Michael A, Boyle S, Polwarth G, Screaton NJ, Ruggiero A, Nethercott SL, Taboada D, Sheares KK, Hadinnapola C, Cannon JE, Bunclark K, Jenkins D, Ng C, Toshner MR, Pepke-Zaba J. Reddy SA, et al. Among authors: toshner mr. J Heart Lung Transplant. 2023 Sep;42(9):1275-1285. doi: 10.1016/j.healun.2023.04.016. Epub 2023 May 16. J Heart Lung Transplant. 2023. PMID: 37201688
Complement lectin pathway activation is associated with COVID-19 disease severity, independent of MBL2 genotype subgroups.
Hurler L, Szilágyi Á, Mescia F, Bergamaschi L, Mező B, Sinkovits G, Réti M, Müller V, Iványi Z, Gál J, Gopcsa L, Reményi P, Szathmáry B, Lakatos B, Szlávik J, Bobek I, Prohászka ZZ, Förhécz Z, Csuka D, Kajdácsi E, Cervenak L, Kiszel P, Masszi T, Vályi-Nagy I, Würzner R; Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID BioResource Collaboration; Lyons PA, Toonen EJM, Prohászka Z. Hurler L, et al. Front Immunol. 2023 Mar 27;14:1162171. doi: 10.3389/fimmu.2023.1162171. eCollection 2023. Front Immunol. 2023. PMID: 37051252 Free PMC article.
Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs.
Hurler L, Toonen EJM, Kajdácsi E, van Bree B, Brandwijk RJMGE, de Bruin W, Lyons PA, Bergamaschi L; Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID BioResource Collaboration; Sinkovits G, Cervenak L, Würzner R, Prohászka Z. Hurler L, et al. Front Immunol. 2022 Nov 4;13:1039765. doi: 10.3389/fimmu.2022.1039765. eCollection 2022. Front Immunol. 2022. PMID: 36420270 Free PMC article.
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N, Swietlik EM, Welch CL, Pauciulo MW, Hagen JJ, Zhou X, Guo Y, Karten J, Pandya D, Tilly T, Lutz KA, Martin JM, Treacy CM, Rosenzweig EB, Krishnan U, Coleman AW, Gonzaga-Jauregui C, Lawrie A, Trembath RC, Wilkins MR; Regeneron Genetics Center; PAH Biobank Enrolling Centers’ Investigators; NIHR BioResource for Translational Research - Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; Morrell NW, Shen Y, Gräf S, Nichols WC, Chung WK. Zhu N, et al. Genome Med. 2021 May 10;13(1):80. doi: 10.1186/s13073-021-00891-1. Genome Med. 2021. PMID: 33971972 Free PMC article.
Levels of soluble complement regulators predict severity of COVID-19 symptoms.
Tierney AL, Alali WM, Scott T, Rees-Unwin KS; CITIID-NIHR BioResource COVID-19 Collaboration; Clark SJ, Unwin RD. Tierney AL, et al. Front Immunol. 2022 Oct 18;13:1032331. doi: 10.3389/fimmu.2022.1032331. eCollection 2022. Front Immunol. 2022. PMID: 36330526 Free PMC article.
34 results