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Page 1
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
Black HA, de Proce SM, Campos JL, Meynert A, Halachev M, Marsh JA, Hirst RA, O'Callaghan C, Shoemark A, Toddie-Moore D; Scottish Genomes Partnership; Santoyo-Lopez J, Murray J, Macleod K, Urquhart DS, Unger S, Aitman TJ, Mill P. Black HA, et al. Among authors: marsh ja. Pediatr Pulmonol. 2024 Dec;59(12):3322-3332. doi: 10.1002/ppul.27200. Epub 2024 Aug 8. Pediatr Pulmonol. 2024. PMID: 39115449 Free PMC article.
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
Zhu G, Badonyi M, Franklin L, Seabra L, Rice GI, Anne-Boland-Auge, Deleuze JF, El-Chehadeh S, Anheim M, de Saint-Martin A, Pellegrini S, Marsh JA, Crow YJ, El-Daher MT. Zhu G, et al. Among authors: marsh ja. J Clin Immunol. 2023 May;43(4):808-818. doi: 10.1007/s10875-023-01445-3. Epub 2023 Feb 8. J Clin Immunol. 2023. PMID: 36753016 Free PMC article.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: marsh ja. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
Predicting pathogenic protein variants.
Marsh JA, Teichmann SA. Marsh JA, et al. Science. 2023 Sep 22;381(6664):1284-1285. doi: 10.1126/science.adj8672. Epub 2023 Sep 19. Science. 2023. PMID: 37725046 Free article.
Guidelines for releasing a variant effect predictor.
Livesey BJ, Badonyi M, Dias M, Frazer J, Kumar S, Lindorff-Larsen K, McCandlish DM, Orenbuch R, Shearer CA, Muffley L, Foreman J, Glazer AM, Lehner B, Marks DS, Roth FP, Rubin AF, Starita LM, Marsh JA. Livesey BJ, et al. Among authors: marsh ja. ArXiv [Preprint]. 2024 Apr 16:arXiv:2404.10807v1. ArXiv. 2024. PMID: 38699161 Free PMC article. Preprint.
CDK4/6 inhibitor-mediated cell overgrowth triggers osmotic and replication stress to promote senescence.
Crozier L, Foy R, Adib R, Kar A, Holt JA, Pareri AU, Valverde JM, Rivera R, Weston WA, Wilson R, Regnault C, Whitfield P, Badonyi M, Bennett LG, Vernon EG, Gamble A, Marsh JA, Staples CJ, Saurin AT, Barr AR, Ly T. Crozier L, et al. Among authors: marsh ja. Mol Cell. 2023 Nov 16;83(22):4062-4077.e5. doi: 10.1016/j.molcel.2023.10.016. Epub 2023 Nov 16. Mol Cell. 2023. PMID: 37977118 Free article.
ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma.
Lu Y, Travnickova J, Badonyi M, Rambow F, Coates A, Khan Z, Marques J, Murphy LC, Garcia-Martinez P, Marais R, Louphrasitthiphol P, Chan AHY, Schofield CJ, von Kriegsheim A, Marsh JA, Pavet V, Sansom OJ, Illingworth RS, Patton EE. Lu Y, et al. Among authors: marsh ja. Cell Rep. 2024 Jul 23;43(7):114406. doi: 10.1016/j.celrep.2024.114406. Epub 2024 Jul 3. Cell Rep. 2024. PMID: 38963759 Free PMC article.
The Platform Trial In COVID-19 priming and BOOsting (PICOBOO): The immunogenicity, reactogenicity, and safety of licensed COVID-19 vaccinations administered as a second booster in BNT162b2 primed individuals aged 18-<50 and 50-<70 years old.
McLeod C, Dymock M, Flanagan KL, Plebanski M, Marshall HS, Estcourt MJ, Wadia U, Tjiam MC, Blyth CC, Subbarao K, Mordant FL, Nicholson S, Cain N, Brizuela R, Faust SN, Thornton RB, Ellis Z, Mckenzie A, Marsh JA, Snelling TL, Richmond PC. McLeod C, et al. Among authors: marsh ja. J Infect. 2024 Dec;89(6):106346. doi: 10.1016/j.jinf.2024.106346. Epub 2024 Nov 15. J Infect. 2024. PMID: 39550007 Free article. Clinical Trial.
257 results