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Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders.
Porubsky D, Höps W, Ashraf H, Hsieh P, Rodriguez-Martin B, Yilmaz F, Ebler J, Hallast P, Maria Maggiolini FA, Harvey WT, Henning B, Audano PA, Gordon DS, Ebert P, Hasenfeld P, Benito E, Zhu Q; Human Genome Structural Variation Consortium (HGSVC); Lee C, Antonacci F, Steinrücken M, Beck CR, Sanders AD, Marschall T, Eichler EE, Korbel JO. Porubsky D, et al. Among authors: maria maggiolini fa. Cell. 2022 May 26;185(11):1986-2005.e26. doi: 10.1016/j.cell.2022.04.017. Epub 2022 May 6. Cell. 2022. PMID: 35525246 Free PMC article.
A high-resolution map of small-scale inversions in the gibbon genome.
Mercuri L, Palmisano D, L'Abbate A, D'Addabbo P, Montinaro F, Catacchio CR, Hasenfeld P, Ventura M, Korbel JO, Sanders AD, Maggiolini FAM, Antonacci F. Mercuri L, et al. Among authors: maggiolini fam. Genome Res. 2022 Oct;32(10):1941-1951. doi: 10.1101/gr.276960.122. Epub 2022 Sep 30. Genome Res. 2022. PMID: 36180231 Free PMC article.
Inversion variants in human and primate genomes.
Catacchio CR, Maggiolini FAM, D'Addabbo P, Bitonto M, Capozzi O, Lepore Signorile M, Miroballo M, Archidiacono N, Eichler EE, Ventura M, Antonacci F. Catacchio CR, et al. Among authors: maggiolini fam. Genome Res. 2018 Jun;28(6):910-920. doi: 10.1101/gr.234831.118. Epub 2018 May 18. Genome Res. 2018. PMID: 29776991 Free PMC article.
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates.
Maggiolini FAM, Mercuri L, Antonacci F, Anaclerio F, Calabrese FM, Lorusso N, L'Abbate A, Sorensen M, Giannuzzi G, Eichler EE, Catacchio CR, Ventura M. Maggiolini FAM, et al. Genes (Basel). 2020 Feb 18;11(2):213. doi: 10.3390/genes11020213. Genes (Basel). 2020. PMID: 32085667 Free PMC article.
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
Hsieh P, Vollger MR, Dang V, Porubsky D, Baker C, Cantsilieris S, Hoekzema K, Lewis AP, Munson KM, Sorensen M, Kronenberg ZN, Murali S, Nelson BJ, Chiatante G, Maggiolini FAM, Blanché H, Underwood JG, Antonacci F, Deleuze JF, Eichler EE. Hsieh P, et al. Among authors: maggiolini fam. Science. 2019 Oct 18;366(6463):eaax2083. doi: 10.1126/science.aax2083. Science. 2019. PMID: 31624180 Free PMC article.
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.
Maggiolini FAM, Sanders AD, Shew CJ, Sulovari A, Mao Y, Puig M, Catacchio CR, Dellino M, Palmisano D, Mercuri L, Bitonto M, Porubský D, Cáceres M, Eichler EE, Ventura M, Dennis MY, Korbel JO, Antonacci F. Maggiolini FAM, et al. Genome Res. 2020 Nov;30(11):1680-1693. doi: 10.1101/gr.265322.120. Epub 2020 Oct 22. Genome Res. 2020. PMID: 33093070 Free PMC article.
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
Cellamare A, Coccaro N, Nuzzi MC, Casieri P, Tampoia M, Maggiolini FAM, Gentile M, Ficarella R, Ponzi E, Conserva MR, Cardarelli L, Panarese A, Antonacci F, Gesario A. Cellamare A, et al. Among authors: maggiolini fam. Genes (Basel). 2021 Jun 7;12(6):877. doi: 10.3390/genes12060877. Genes (Basel). 2021. PMID: 34200357 Free PMC article.