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Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: giglio s. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: giglio s. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R. Cellini E, et al. Among authors: giglio s. Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683929 Free PMC article. Clinical Trial.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Giangiobbe S, Caraffi SG, Ivanovski I, Maini I, Pollazzon M, Rosato S, Trimarchi G, Lauriello A, Marinelli M, Nicoli D, Baldo C, Laurie S, Flores-Daboub J, Provenzano A, Andreucci E, Peluso F, Rizzo R, Stewart H, Lachlan K, Bayat A, Napoli M, Carboni G, Baker J, Mendel A, Piatelli G, Pantaleoni C, Mattina T, Prontera P, Mendelsohn NJ, Giglio S, Zuffardi O, Garavelli L. Giangiobbe S, et al. Among authors: giglio s. Am J Med Genet A. 2020 Dec;182(12):2877-2886. doi: 10.1002/ajmg.a.61859. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043602
Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
Milone R, Cesario C, Goldoni M, Pasquariello R, Fusilli C, Giovannetti A, Giglio S, Novelli A, Caputo V, Cioni G, Mazza T, Battaglia A, Bernardini L, Battini R. Milone R, et al. Among authors: giglio s. J Pediatr Genet. 2020 Sep 18;10(4):292-299. doi: 10.1055/s-0040-1716398. eCollection 2021 Dec. J Pediatr Genet. 2020. PMID: 34849274 Free PMC article.
219 results