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Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino F, Giachini C, Contini E, Benelli M, Marseglia G, Giuliani C, Marin F, Nannetti G, Lisi E, Sbernini F, Periti E, Cordisco A, Colosi E, D'ambrosio V, Mazzi M, Rossi M, Staderini L, Minuti B, Pelo E, Cicatiello R, Maruotti GM, Sglavo G, Conti A, Frusconi S, Pescucci C, Torricelli F. Gerundino F, et al. Among authors: torricelli f. J Matern Fetal Neonatal Med. 2017 Mar;30(6):710-716. doi: 10.1080/14767058.2016.1183633. Epub 2016 May 26. J Matern Fetal Neonatal Med. 2017. PMID: 27226231
A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.
Contini E, Paganini I, Sestini R, Candita L, Capone GL, Barbetti L, Falconi S, Frusconi S, Giotti I, Giuliani C, Torricelli F, Benelli M, Papi L. Contini E, et al. Among authors: torricelli f. PLoS One. 2015 Jun 12;10(6):e0129099. doi: 10.1371/journal.pone.0129099. eCollection 2015. PLoS One. 2015. PMID: 26066488 Free PMC article.
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F, Girolami F, Boschi B, Barlocco F, Tomberli A, Baldini K, Coppini R, Tanini I, Bardi S, Contini E, Cecchi F, Pelo E, Cook SA, Cerbai E, Poggesi C, Torricelli F, Walsh R, Olivotto I. Mazzarotto F, et al. Among authors: torricelli f. Genet Med. 2019 Feb;21(2):284-292. doi: 10.1038/s41436-018-0046-0. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875424 Free PMC article.
A very fast and accurate method for calling aberrations in array-CGH data.
Benelli M, Marseglia G, Nannetti G, Paravidino R, Zara F, Bricarelli FD, Torricelli F, Magi A. Benelli M, et al. Among authors: torricelli f. Biostatistics. 2010 Jul;11(3):515-8. doi: 10.1093/biostatistics/kxq008. Epub 2010 Mar 5. Biostatistics. 2010. PMID: 20207682
345 results