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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 Oct 28. doi: 10.1159/000534561. Online ahead of print. 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.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Micolonghi C, Fabiani M, Pagannone E, Savio C, Ricci M, Caroselli S, Gambioli V, Musumeci B, Germani A, Tini G, Autore C, Pizzuti A, Visco V, Rubattu S, Petrucci S, Piane M. Micolonghi C, et al. Among authors: fabiani m. Curr Issues Mol Biol. 2023 Mar 15;45(3):2422-2430. doi: 10.3390/cimb45030157. Curr Issues Mol Biol. 2023. PMID: 36975527 Free PMC article.
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano F, Chiara M, Consiglio A, D'Amato G, Gentile M, Mirabelli V, Piane M, Savio C, Fabiani M, D'Elia D, Sbisà E, Scarano G, Lonardo F, Tullo A, Pesole G, Faienza MF. Marzano F, et al. Among authors: fabiani m. Int J Mol Sci. 2023 Jul 31;24(15):12291. doi: 10.3390/ijms241512291. Int J Mol Sci. 2023. PMID: 37569667 Free PMC article.
30 results