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Constructing custom-made radiotranscriptomic signatures of vascular inflammation from routine CT angiograms: a prospective outcomes validation study in COVID-19.
Kotanidis CP, Xie C, Alexander D, Rodrigues JCL, Burnham K, Mentzer A, O'Connor D, Knight J, Siddique M, Lockstone H, Thomas S, Kotronias R, Oikonomou EK, Badi I, Lyasheva M, Shirodaria C, Lumley SF, Constantinides B, Sanderson N, Rodger G, Chau KK, Lodge A, Tsakok M, Gleeson F, Adlam D, Rao P, Indrajeet D, Deshpande A, Bajaj A, Hudson BJ, Srivastava V, Farid S, Krasopoulos G, Sayeed R, Ho LP, Neubauer S, Newby DE, Channon KM, Deanfield J, Antoniades C; COMBAT Consortium; ORFAN investigators. Kotanidis CP, et al. Lancet Digit Health. 2022 Oct;4(10):e705-e716. doi: 10.1016/S2589-7500(22)00132-7. Epub 2022 Aug 26. Lancet Digit Health. 2022. PMID: 36038496 Free PMC article.
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity.
COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: julian.knight@well.ox.ac.uk; COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: julian.knight@well.ox.ac.uk, et al. Cell. 2022 Mar 3;185(5):916-938.e58. doi: 10.1016/j.cell.2022.01.012. Epub 2022 Jan 21. Cell. 2022. PMID: 35216673 Free PMC article.
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE. Sousa SB, et al. Among authors: docker j. Nat Genet. 2014 Jan;46(1):70-6. doi: 10.1038/ng.2829. Epub 2013 Nov 17. Nat Genet. 2014. PMID: 24241535