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Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
Amico G, Hemphill WO, Severino M, Moratti C, Pascarella R, Bertamino M, Napoli F, Volpi S, Rosamilia F, Signa S, Perrino F, Zedde M, Ceccherini I, On Behalf Of The Gaslini Stroke Study Group. Amico G, et al. Among authors: rosamilia f. Genes (Basel). 2022 Jun 30;13(7):1179. doi: 10.3390/genes13071179. Genes (Basel). 2022. PMID: 35885962 Free PMC article.
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
Bachetti T, Rosamilia F, Bartolucci M, Santamaria G, Mosconi M, Sartori S, De Filippo MR, Di Duca M, Obino V, Avanzini S, Mavilio D, Candiani S, Petretto A, Pini Prato A, Ceccherini I, Lantieri F. Bachetti T, et al. Among authors: rosamilia f. Int J Mol Sci. 2021 Apr 7;22(8):3831. doi: 10.3390/ijms22083831. Int J Mol Sci. 2021. PMID: 33917126 Free PMC article.