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Page 1
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
Roberts HE, Lopopolo M, Pagnamenta AT, Sharma E, Parkes D, Lonie L, Freeman C, Knight SJL, Lunter G, Dreau H, Lockstone H, Taylor JC, Schuh A, Bowden R, Buck D. Roberts HE, et al. Among authors: lopopolo m. Sci Rep. 2021 Mar 19;11(1):6408. doi: 10.1038/s41598-021-85354-8. Sci Rep. 2021. PMID: 33742045 Free PMC article.
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Maroofian R, Pagnamenta AT, Navabazam A, Schwessinger R, Roberts HE, Lopopolo M, Dehghani M, Vahidi Mehrjardi MY, Haerian A, Soltanianzadeh M, Noori Kooshki MH, Knight SJL, Miller KA, McGowan SJ, Chatron N, Timberlake AT, Melo US, Mundlos S, Buck D, Twigg SRF, Taylor JC, Wilkie AOM, Calpena E. Maroofian R, et al. Among authors: lopopolo m. HGG Adv. 2024 Oct 10;5(4):100352. doi: 10.1016/j.xhgg.2024.100352. Epub 2024 Sep 10. HGG Adv. 2024. PMID: 39257002 Free PMC article.
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: [email protected]; COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. COvid-19 Multi-omics Blood ATlas (COMBAT) Consortium. Electronic address: [email protected], 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.
Facilitating accessible, rapid, and appropriate processing of ancient metagenomic data with AMDirT.
Borry M, Forsythe A, Andrades Valtueña A, Hübner A, Ibrahim A, Quagliariello A, White AE, Kocher A, Vågene ÅJ, Bartholdy BP, Spurīte D, Ponce-Soto GY, Neumann G, Huang IT, Light I, Velsko IM, Jackson I, Frangenberg J, Serrano JG, Fumey J, Özdoğan KT, Blevins KE, Daly KG, Lopopolo M, Moraitou M, Michel M, van Os M, Bravo-Lopez MJ, Sarhan MS, Dagtas ND, Oskolkov N, Smith OS, Lebrasseur O, Rozwalak P, Eisenhofer R, Wasef S, Ramachandran SL, Vanghi V, Warinner C, Fellows Yates JA. Borry M, et al. Among authors: lopopolo m. F1000Res. 2024 May 28;12:926. doi: 10.12688/f1000research.134798.2. eCollection 2023. F1000Res. 2024. PMID: 39262445 Free PMC article.
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group. Chiriboga CA, et al. Neurol Ther. 2023 Oct;12(5):1799-1801. doi: 10.1007/s40120-023-00503-7. Neurol Ther. 2023. PMID: 37395990 Free PMC article. No abstract available.
Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group. Chiriboga CA, et al. Neurol Ther. 2023 Apr;12(2):543-557. doi: 10.1007/s40120-023-00444-1. Epub 2023 Feb 13. Neurol Ther. 2023. PMID: 36780114 Free PMC article.
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