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12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: montaldi a. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Grati FR, Bestetti I, De Siero D, Malvestiti F, Villa N, Sala E, Crosti F, Parisi V, Nardone AM, Di Giacomo G, Pettinari A, Tortora G, Montaldi A, Calò A, Saccilotto D, Zanchetti S, Celli P, Guerneri S, Silipigni R, Cardarelli L, Lippi E, Cavani S, Malacarne M, Genesio R, Beltrami N, Pittalis MC, Desiderio L, Gentile M, Ficarella R, Recalcati MP, Catusi I, Garzo M, Miele L, Corti C, Ghezzo S, Bertini V, Cambi F, Valetto A, Facchinetti B, Bernardini L, Capalbo A, Balducci F, Pelo E, Minuti B, Pescucci C, Giuliani C, Renieri A, Longo I, Tita R, Castello G, Casalone R, Righi R, Raso B, Civolani A, Muzi MC, di Natale M, Varriale L, Gasperini D, Nuzzi MC, Cellamare A, Casieri P, Busuito R, Ceccarini C, Cesarano C, Privitera O, Melani D, Menozzi C, Falcinelli C, Calabrese O, Battaglia P, Tanzariello A, Stampalija T, Ardisia C, Gasparini P, Benn P, Novelli A. Grati FR, et al. Among authors: montaldi a. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Catusi I, Recalcati MP, Bestetti I, Garzo M, Valtorta C, Alfonsi M, Alghisi A, Cappellani S, Casalone R, Caselli R, Ceccarini C, Ceglia C, Ciaschini AM, Coviello D, Crosti F, D'Aprile A, Fabretto A, Genesio R, Giagnacovo M, Granata P, Longo I, Malacarne M, Marseglia G, Montaldi A, Nardone AM, Palka C, Pecile V, Pessina C, Postorivo D, Redaelli S, Renieri A, Rigon C, Tiberi F, Tonelli M, Villa N, Zilio A, Zuccarello D, Novelli A, Larizza L, Giardino D. Catusi I, et al. Among authors: montaldi a. Mol Genet Genomic Med. 2020 Jan;8(1):e1056. doi: 10.1002/mgg3.1056. Epub 2019 Dec 18. Mol Genet Genomic Med. 2020. PMID: 31851782 Free PMC article.