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Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility.
Khan D, Ramachandiran I, Vasu K, China A, Khan K, Cumbo F, Halawani D, Terenzi F, Zin I, Long B, Costain G, Blaser S, Carnevale A, Gogonea V, Dutta R, Blankenberg D, Yoon G, Fox PL. Khan D, et al. Among authors: cumbo f. Nat Commun. 2024 May 20;15(1):4284. doi: 10.1038/s41467-024-48549-x. Nat Commun. 2024. PMID: 38769304 Free PMC article.
A Perspective on Protein Structure Prediction Using Quantum Computers.
Doga H, Raubenolt B, Cumbo F, Joshi J, DiFilippo FP, Qin J, Blankenberg D, Shehab O. Doga H, et al. Among authors: cumbo f. J Chem Theory Comput. 2024 May 14;20(9):3359-3378. doi: 10.1021/acs.jctc.4c00067. Epub 2024 May 4. J Chem Theory Comput. 2024. PMID: 38703105 Free PMC article. Review.
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study.
Buchignani B, Cicala G, Cumbo F, Ricci M, Capasso A, Ticci C, Mazzanti S, Brolatti N, Tosi M, Dosi C, Antonaci L, Coratti G, Pera MC, Leone D, Palermo C, Berti B, Frongia AL, Sacchini M, Bruno C, Masson R, D'Amico A, Battini R, Pane M, Mercuri E. Buchignani B, et al. Among authors: cumbo f. Arch Dis Child. 2024 Apr 18;109(5):395-401. doi: 10.1136/archdischild-2023-326613. Arch Dis Child. 2024. PMID: 38290776
Neuroblastoma is associated with alterations in gut microbiome composition subsequent to maternal microbial seeding.
Valles-Colomer M, Manghi P, Cumbo F, Masetti G, Armanini F, Asnicar F, Blanco-Miguez A, Pinto F, Punčochář M, Garaventa A, Amoroso L, Ponzoni M, Corrias MV, Segata N. Valles-Colomer M, et al. Among authors: cumbo f. EBioMedicine. 2024 Jan;99:104917. doi: 10.1016/j.ebiom.2023.104917. Epub 2023 Dec 16. EBioMedicine. 2024. PMID: 38104504 Free PMC article.
An ontology-based approach for modelling and querying Alzheimer's disease data.
Taglino F, Cumbo F, Antognoli G, Arisi I, D'Onofrio M, Perazzoni F, Voyat R, Fiscon G, Conte F, Canevelli M, Bruno G, Mecocci P, Bertolazzi P; Alzheimer’s Disease Neuroimaging Initiative. Taglino F, et al. Among authors: cumbo f. BMC Med Inform Decis Mak. 2023 Aug 8;23(1):153. doi: 10.1186/s12911-023-02211-6. BMC Med Inform Decis Mak. 2023. PMID: 37553569 Free PMC article.
44 results