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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: calabrese o. Prenat Diagn. 2022 Dec;42(13):1575-1586. doi: 10.1002/pd.6271. Epub 2022 Nov 30. Prenat Diagn. 2022. PMID: 36403097 Free article.
Unveiling new entities in the PAPA spectrum.
Paganelli A, Rossi E, Calabrese O, Bigi L, Cuffari B, Cesinaro AM, Motolese A. Paganelli A, et al. Among authors: calabrese o. Ital J Dermatol Venerol. 2024 Nov 7. doi: 10.23736/S2784-8671.24.07985-4. Online ahead of print. Ital J Dermatol Venerol. 2024. PMID: 39508831 No abstract available.
Townes-Brocks syndrome with craniosynostosis in two siblings.
Lugli L, Rossi C, Ceccarelli PL, Calabrese O, Bedetti L, Miselli F, Bianchini MA, Iughetti L, Berardi A. Lugli L, et al. Among authors: calabrese o. Eur J Med Genet. 2022 Dec;65(12):104642. doi: 10.1016/j.ejmg.2022.104642. Epub 2022 Oct 15. Eur J Med Genet. 2022. PMID: 36252910
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".
Lugli L, Pollazzon M, Bigoni S, Caraffi SG, Ferlini A, Ferri L, Morrone A, Calabrese O, Iughetti L, Garavelli L, Berardi A. Lugli L, et al. Among authors: calabrese o. Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25. Am J Med Genet A. 2022. PMID: 34562059 No abstract available.
Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.
Resta N, Calabrese O, Grossi V, Lugli L, Simone C, Ranieri C, Piglionica M, Lepore Signorile M, Rossi K, Carli D, Mussa A. Resta N, et al. Among authors: calabrese o. Genet Med. 2021 Nov;23(11):2223-2224. doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234302 Free article. No abstract available.
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