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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. Among authors: penkett c. 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.
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Albuquerque AS, Maimaris J, McKenna AJ, Lambourne J, Moreira F, Workman S, Megy K, Simeoni I, Lango Allen H; NIHR BioResource-Rare Disease Consortium; Morris EC, Burns SO. Albuquerque AS, et al. Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008. Clin Exp Immunol. 2023. PMID: 36722341 Free PMC article. No abstract available.
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Minskaia E, Maimaris J, Jenkins P, Albuquerque AS, Hong Y, Eleftheriou D, Gilmour KC, Grace R, Moreira F, Grimbacher B; NIHR Bioresource-Rare Diseases Consortium; Morris EC, Burns SO. Minskaia E, et al. J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14. J Clin Immunol. 2023. PMID: 37316763 Free PMC article.
Brain injury in COVID-19 is associated with dysregulated innate and adaptive immune responses.
Needham EJ, Ren AL, Digby RJ, Norton EJ, Ebrahimi S, Outtrim JG, Chatfield DA, Manktelow AE, Leibowitz MM, Newcombe VFJ, Doffinger R, Barcenas-Morales G, Fonseca C, Taussig MJ, Burnstein RM, Samanta RJ, Dunai C, Sithole N, Ashton NJ, Zetterberg H, Gisslén M, Edén A, Marklund E, Openshaw PJM, Dunning J, Griffiths MJ, Cavanagh J, Breen G, Irani SR, Elmer A, Kingston N, Summers C, Bradley JR, Taams LS, Michael BD, Bullmore ET, Smith KGC, Lyons PA, Coles AJ, Menon DK; Cambridge NeuroCOVID Group; CITIID-NIHR COVID-19 BioResource Collaboration; Cambridge NIHR Clinical Research Facility. Needham EJ, et al. Brain. 2022 Nov 21;145(11):4097-4107. doi: 10.1093/brain/awac321. Brain. 2022. PMID: 36065116 Free PMC article.
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.
Human Cytomegalovirus Infection of Epithelial Cells Increases SARS-CoV-2 Superinfection by Upregulating the ACE2 Receptor.
Perera MR, Greenwood EJD, Crozier TWM, Elder EG, Schmitt J, Crump CM, Lehner PJ, Wills MR, Sinclair JH; Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research COVID BioResource Collaboration. Perera MR, et al. J Infect Dis. 2023 Feb 14;227(4):543-553. doi: 10.1093/infdis/jiac452. J Infect Dis. 2023. PMID: 36408607 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.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: penkett cj. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
77 results