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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S, Puricelli C, Vurchio D, Ronzani S, Favini S, Maruzzi A, Peruzzi C, Papa A, Spano A, Sirchia F, Mandrile G, Pelle A, Rasmini P, Vercellino F, Zonta A, Rabbone I, Dianzani U, Viri M, Giordano M. Mellone S, et al. Among authors: sirchia f. Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182. eCollection 2022. Front Genet. 2022. PMID: 36035117 Free PMC article.
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB. Di Gregorio E, et al. Among authors: sirchia f. Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25. Clin Genet. 2017. PMID: 28295210
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan A, Lenarduzzi S, Cappellani S, Pecile V, Morgutti M, Orzan E, Ghiselli S, Ambrosetti U, Brumat M, Gajendrarao P, La Bianca M, Faletra F, Grosso E, Sirchia F, Sensi A, Graziano C, Seri M, Gasparini P, Girotto G. Morgan A, et al. Among authors: sirchia f. Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018. Front Genet. 2018. PMID: 30622556 Free PMC article.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Scott A, Di Giosaffatte N, Pinna V, Daniele P, Corno S, D'Ambrosio V, Andreucci E, Marozza A, Sirchia F, Tortora G, Mangiameli D, Di Marco C, Romagnoli M, Donati I, Zonta A, Grosso E, Naretto VG, Mastromoro G, Versacci P, Pantaleoni F, Radio FC, Mazza T, Damante G, Papi L, Mattina T, Giancotti A, Pizzuti A, Laberge AM, Tartaglia M, Delrue MA, De Luca A. Scott A, et al. Among authors: sirchia f. Genet Med. 2021 Jun;23(6):1116-1124. doi: 10.1038/s41436-020-01093-7. Epub 2021 Feb 10. Genet Med. 2021. PMID: 33568805 Free article.
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
Giorgio E, Garelli E, Carando A, Bellora S, Rubino E, Quarello P, Sirchia F, Marrama F, Gallone S, Grosso E, Pasini B, Massa R, Brussino A, Brusco A. Giorgio E, et al. Among authors: sirchia f. J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9. J Hum Genet. 2019. PMID: 31501477 Free article.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Carli D, Operti M, Russo S, Cocchi G, Milani D, Leoni C, Prada E, Melis D, Falco M, Spina J, Uliana V, Sara O, Sirchia F, Tarani L, Macchiaiolo M, Cerrato F, Sparago A, Pignata L, Tannorella P, Cardaropoli S, Bartuli A, Riccio A, Ferrero GB, Mussa A. Carli D, et al. Among authors: sirchia f. Clin Genet. 2022 Oct;102(4):314-323. doi: 10.1111/cge.14193. Epub 2022 Jul 21. Clin Genet. 2022. PMID: 35842840 Free PMC article.
Mosaic Williams syndrome: A case report.
Kalantari S, Biagio MD, Valente EM, Rossi E, Sirchia F. Kalantari S, et al. Among authors: sirchia f. Am J Med Genet A. 2023 Jan;191(1):249-252. doi: 10.1002/ajmg.a.63002. Epub 2022 Oct 20. Am J Med Genet A. 2023. PMID: 36263864
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Giorgio E, Sirchia F, Bosco M, Sobreira NLM; Baylor-Hopkins Center for Mendelian Genomics; Grosso E, Brussino A, Brusco A. Giorgio E, et al. Among authors: sirchia f. Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18. Am J Med Genet A. 2019. PMID: 30561119 Free PMC article.
49 results