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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM. Capalbo A, et al. Among authors: fabiani m. PLoS Genet. 2019 Oct 7;15(10):e1008409. doi: 10.1371/journal.pgen.1008409. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31589614 Free PMC article.
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C. Capalbo A, et al. Among authors: fabiani m. Am J Hum Genet. 2021 Dec 2;108(12):2238-2247. doi: 10.1016/j.ajhg.2021.11.002. Epub 2021 Nov 18. Am J Hum Genet. 2021. PMID: 34798051 Free PMC article.
Epigenetic Clocks: In Aging-Related and Complex Diseases.
Margiotti K, Monaco F, Fabiani M, Mesoraca A, Giorlandino C. Margiotti K, et al. Among authors: fabiani m. Cytogenet Genome Res. 2023;163(5-6):247-256. doi: 10.1159/000534561. Epub 2023 Oct 28. Cytogenet Genome Res. 2023. PMID: 37899027 Review.
The role of genetic testing in suspected fulminant myocarditis: A case report.
Mistrulli R, Micolonghi C, Follesa F, Fabiani M, Pagannone E, D'Amati G, Giordano C, Caroselli S, Savio C, Germani A, Pizzuti A, Visco V, Petrucci S, Rubattu S, Piane M, Autore C. Mistrulli R, et al. Among authors: fabiani m. Mol Genet Metab Rep. 2023 Aug 22;37:101000. doi: 10.1016/j.ymgmr.2023.101000. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 37662494 Free PMC article.
Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene.
Fabiani M, Libotte F, Margiotti K, Tannous DKI, Sparacino D, D'Aleo MP, Monaco F, Dello Russo C, Mesoraca A, Giorlandino C. Fabiani M, et al. Genes (Basel). 2022 Dec 2;13(12):2269. doi: 10.3390/genes13122269. Genes (Basel). 2022. PMID: 36553536 Free PMC article.
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Sciacchitano S, De Francesco GP, Piane M, Savio C, De Vitis C, Petrucci S, Salvati V, Goldoni M, Fabiani M, Mesoraca A, Micolonghi C, Torres B, Piccinetti A, Pippi R, Mancini R. Sciacchitano S, et al. Among authors: fabiani m. Diagnostics (Basel). 2022 Nov 30;12(12):2997. doi: 10.3390/diagnostics12122997. Diagnostics (Basel). 2022. PMID: 36553004 Free PMC article.
31 results