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Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F. Maggiolini FAM, et al. PLoS Genet. 2019 Mar 27;15(3):e1008075. doi: 10.1371/journal.pgen.1008075. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30917130 Free PMC article.
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.
Warren WC, Harris RA, Haukness M, Fiddes IT, Murali SC, Fernandes J, Dishuck PC, Storer JM, Raveendran M, Hillier LW, Porubsky D, Mao Y, Gordon D, Vollger MR, Lewis AP, Munson KM, DeVogelaere E, Armstrong J, Diekhans M, Walker JA, Tomlinson C, Graves-Lindsay TA, Kremitzki M, Salama SR, Audano PA, Escalona M, Maurer NW, Antonacci F, Mercuri L, Maggiolini FAM, Catacchio CR, Underwood JG, O'Connor DH, Sanders AD, Korbel JO, Ferguson B, Kubisch HM, Picker L, Kalin NH, Rosene D, Levine J, Abbott DH, Gray SB, Sanchez MM, Kovacs-Balint ZA, Kemnitz JW, Thomasy SM, Roberts JA, Kinnally EL, Capitanio JP, Skene JHP, Platt M, Cole SA, Green RE, Ventura M, Wiseman RW, Paten B, Batzer MA, Rogers J, Eichler EE. Warren WC, et al. Among authors: maggiolini fam. Science. 2020 Dec 18;370(6523):eabc6617. doi: 10.1126/science.abc6617. Science. 2020. PMID: 33335035 Free PMC article.
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.
Paparella A, L'Abbate A, Palmisano D, Chirico G, Porubsky D, Catacchio CR, Ventura M, Eichler EE, Maggiolini FAM, Antonacci F. Paparella A, et al. Among authors: maggiolini fam. Int J Mol Sci. 2023 Oct 31;24(21):15818. doi: 10.3390/ijms242115818. Int J Mol Sci. 2023. PMID: 37958807 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.
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.
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.
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.
11 results