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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
Saglia C, Bracciamà V, Trotta L, Mioli F, Faini AC, Brach Del Prever GM, Kalantari S, Luca M, Romeo CM, Scolari C, Peruzzi L, Calvo PL, Mussa A, Fenoglio R, Roccatello D, Alberti C, Carli D, Amoroso A, Deaglio S, Vaisitti T. Saglia C, et al. Among authors: bracciama v. BMC Med Genomics. 2023 Nov 27;16(1):303. doi: 10.1186/s12920-023-01747-w. BMC Med Genomics. 2023. PMID: 38012624 Free PMC article.
The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.
Vaisitti T, Bracciamà V, Faini AC, Brach Del Prever GM, Callegari M, Kalantari S, Mioli F, Romeo CM, Luca M, Camilla R, Mattozzi F, Gianoglio B, Peruzzi L, Amoroso A, Deaglio S. Vaisitti T, et al. Among authors: bracciama v. Hum Genomics. 2023 Feb 13;17(1):10. doi: 10.1186/s40246-023-00456-w. Hum Genomics. 2023. PMID: 36782285 Free PMC article.
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T, Sorbini M, Callegari M, Kalantari S, Bracciamà V, Arruga F, Vanzino SB, Rendine S, Togliatto G, Giachino D, Pelle A, Cocchi E, Benvenuta C, Baldovino S, Rollino C, Fenoglio R, Sciascia S, Tamagnone M, Vitale C, Calabrese G, Biancone L, Bussolino S, Savoldi S, Borzumati M, Cantaluppi V, Chiappero F, Ungari S, Peruzzi L, Roccatello D, Amoroso A, Deaglio S. Vaisitti T, et al. Among authors: bracciama v. J Nephrol. 2021 Oct;34(5):1767-1781. doi: 10.1007/s40620-020-00898-8. Epub 2020 Nov 23. J Nephrol. 2021. PMID: 33226606 Free PMC article.
A novel COLEC10 mutation in a child with 3MC syndrome.
Migliorero M, Kalantari S, Bracciamà V, Sorbini M, Arruga F, Peruzzi L, Biamino E, Amoroso A, Vaisitti T, Deaglio S. Migliorero M, et al. Among authors: bracciama v. Eur J Med Genet. 2021 Dec;64(12):104374. doi: 10.1016/j.ejmg.2021.104374. Epub 2021 Nov 2. Eur J Med Genet. 2021. PMID: 34740859
New case of syncytial giant-cell variant of hepatocellular carcinoma in a pediatric patient with HNF1B deficiency: does it fit with the syndrome?
Pinon M, Gambella A, Giugliano L, Chiadò C, Kalantari S, Bracciamà V, Deaglio S, Tinti D, Peruzzi L, Cotti R, Catalano S, Cadamuro M, Fabris L, Calvo PL, Romagnoli R. Pinon M, et al. Among authors: bracciama v. BMJ Open Gastroenterol. 2022 Dec;9(1):e001013. doi: 10.1136/bmjgast-2022-001013. BMJ Open Gastroenterol. 2022. PMID: 36572455 Free PMC article.
Bidirectional linkage between the B-cell receptor and NOTCH1 in chronic lymphocytic leukemia and in Richter's syndrome: therapeutic implications.
Arruga F, Bracciamà V, Vitale N, Vaisitti T, Gizzi K, Yeomans A, Coscia M, D'Arena G, Gaidano G, Allan JN, Furman RR, Packham G, Forconi F, Deaglio S. Arruga F, et al. Among authors: bracciama v. Leukemia. 2020 Feb;34(2):462-477. doi: 10.1038/s41375-019-0571-0. Epub 2019 Aug 29. Leukemia. 2020. PMID: 31467429 Free article.
Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia.
Saglia C, Arruga F, Scolari C, Kalantari S, Albanese S, Bracciamà V, Corso Faini A, Brach Del Prever G, Luca M, Romeo C, Mioli F, Migliorero M, Tessaris D, Carli D, Amoroso A, Vaisitti T, De Sanctis L, Deaglio S. Saglia C, et al. Among authors: bracciama v. Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035. Eur J Endocrinol. 2024. PMID: 38561929