ANTONACCI, FRANCESCA

ANTONACCI, FRANCESCA  

DIPARTIMENTO DI BIOSCIENZE , BIOTECNOLOGIE E AMBIENTE  

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Titolo Data di pubblicazione Autore(i) File
A high-quality bonobo genome refines the analysis of hominid evolution 1-gen-2021 Mao, Yafei; Catacchio, Claudia R.; Hillier, LaDeana W.; Porubsky, David; Li, Ruiyang; Sulovari, Arvis; Fernandes, Jason D.; Montinaro, Francesco; Gordon, David S.; Storer, Jessica M.; Haukness, Marina; Fiddes, Ian T.; Murali, Shwetha Canchi; Dishuck, Philip C.; Hsieh, Pinghsun; Harvey, William T.; Audano, Peter A.; Mercuri, Ludovica; Piccolo, Ilaria; Antonacci, Francesca; Munson, Katherine M.; Lewis, Alexandra P.; Baker, Carl; Underwood, Jason G.; Hoekzema, Kendra; Huang, Tzu-Hsueh; Sorensen, Melanie; Walker, Jerilyn A.; Hoffman, Jinna; Thibaud-Nissen, Françoise; Salama, Sofie R.; Pang, Andy W. C.; Lee, Joyce; Hastie, Alex R.; Paten, Benedict; Batzer, Mark A.; Diekhans, Mark; Ventura, Mario; Eichler, Evan E.
A high-resolution map of small-scale inversions in the gibbon genome 1-gen-2022 Mercuri, Ludovica; Palmisano, Donato; L'Abbate, Alberto; D'Addabbo, Pietro; Montinaro, Francesco; Catacchio, Claudia Rita; Hasenfeld, Patrick; Ventura, Mario; Korbel, Jan O; Sanders, Ashley D; Maggiolini, Flavia Angela Maria; Antonacci, Francesca
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk 1-gen-2010 Antonacci, Francesca; Kidd, Jm; Marques Bonet, T; Teague, B; Ventura, Mario; Girirajan, S; Alkan, C; Campbell, Cd; Vives, L; Malig, M; Rosenfeld, Ja; Ballif, Bc; Shaffer, Lg; Graves, Ta; Wilson, Rk; Schwartz, Dc; Eichler, Ee
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features 1-gen-2023 Nicola Riviello, Francesco; Daponte, Alessia; Ponzi, Emanuela; Ficarella, Romina; Orsini, Paola; Bucci, Roberta; Ventura, Mario; Antonacci, Francesca; Catacchio, CLAUDIA RITA; Gentile, Mattia
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 1-gen-2010 Girirajan, S; Rosenfeld, Ja; Cooper, Gm; Antonacci, F; Siswara, P; Itsara, A; Vives, L; Walsh, T; Mccarthy, Se; Baker, C; Mefford, Hc; Kidd, Jm; Browning, Sr; Browning, Bl; Dickel, De; Levy, Dl; Ballif, Bc; Platky, K; Farber, Dm; Gowans, Gc; Wetherbee, Jj; Asamoah, A; Weaver, Dd; Mark, Pr; Dickerson, J; Garg, Bp; Ellingwood, Sa; Smith, R; Banks, Vc; Smith, W; Mcdonald, Mt; Hoo, Jj; French, Bn; Hudson, C; Johnson, Jp; Ozmore, Jr; Moeschler, Jb; Surti, U; Escobar, Lf; El Khechen, D; Gorski, Jl; Kussmann, J; Salbert, B; Lacassie, Y; Biser, A; McDonald McGinn, Dm; Zackai, Eh; Deardorff, Ma; Shaikh, Th; Haan, E; Friend, Kl; Fichera, M; Romano, C; Gécz, J; Delisi, Le; Sebat, J; King, Mc; Shaffer, Lg; Eichler, Ee
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes 1-gen-2019 Hsieh, Pinghsun; Vollger, Mitchell R; Dang, Vy; Porubsky, David; Baker, Carl; Cantsilieris, Stuart; Hoekzema, Kendra; Lewis, Alexandra P; Munson, Katherine M; Sorensen, Melanie; Kronenberg, Zev N; Murali, Shwetha; Nelson, Bradley J; Chiatante, Giorgia; Maggiolini, Flavia Angela Maria; Blanché, Hélène; Underwood, Jason G; Antonacci, Francesca; Deleuze, Jean-François; Eichler, Evan E
Autosomal Dominant Familial Dyskinesia and Facial Myokymia Single Exome Sequencing Identifies a Mutation in Adenylyl Cyclase 5 1-gen-2012 Chen, Yz; Matsushita, M; Robertson, P; Rieder, M; Girirajan, S; Antonacci, Francesca; Lipe, H; Eichler, Ee; Nickerson, D; Bird, T; Raskind, W.
Characterization of missing human genome sequences and copy-number polymorphic insertions 1-gen-2010 Kidd, Jm; Sampas, N; Antonacci, Francesca; Graves, T; Fulton, R; Hayden, Hs; Alkan, C; Malig, M; Ventura, Mario; Giannuzzi, G; Kallicki, J; Anderson, P; Tsalenko, A; Yamada, Na; Tsang, P; Kaul, R; Wilson, Rk; Bruhn, L; Eichler, Ee
Characterization of six human disease-associated inversion polymorphisms 1-gen-2009 Antonacci, Francesca; Kidd, Jm; Marques Bonet, T; Ventura, Mario; Siswara, P; Jiang, Zs; Eichler, Ee
Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis 1-gen-2010 Mefford, Hc; Shafer, N; Antonacci, Francesca; Tsai, Jm; Park, Ss; Hing, Av; Rieder, Mj; Smyth, Md; Speltz, Ml; Eichler, Ee; Cunningham, Ml
Cytogenetic and array-cgh characterization of a simple case of reciprocal t(3;10) translocation reveals a hidden deletion at 5q12 1-gen-2021 Cellamare, A.; Coccaro, N.; Nuzzi, M. C.; Casieri, P.; Tampoia, M.; Maggiolini, F. A. M.; Gentile, M.; Ficarella, R.; Ponzi, E.; Conserva, M. R.; Cardarelli, L.; Panarese, A.; Antonacci, F.; Gesario, A.
Death and Resurrection of the Human IRGM Gene 1-gen-2009 Bekpen, C; Marques Bonet, T; Alkan, C; Antonacci, Francesca; Leogrande, Mb; Ventura, Mario; Kidd, Jm; Siswara, P; Howard, Jc; Eichler, Ee
Discovery and characterization of Human/Great-Ape inversion polymorphisms 1-gen-2008 Antonacci, Francesca; Kidd, Jm; Marques Bonet, T; Ventura, Mario; Siswara, P; Jiang, Z; Eichler, E. E.
Discovery of large genomic inversions using long range information. 1-gen-2017 Eslami Rasekh, M; Chiatante, G; Miroballo, M; Tang, J; Ventura, M; Amemiya, Ct; Eichler, E. E.; Antonacci, F; Alkan, C.
Diversity of Human Copy Number Variation and Multicopy Genes. 1-gen-2010 Sudmant, Ph; Kitzman, Jo; Antonacci, Francesca; Alkan, C; Malig, M; Tsalenko, A; Sampas, N; Bruhn, L; Shendure, J; 1000 Genomes, Project; Eichler, Ee
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility 1-gen-2016 Nuttle, Xander; Giannuzzi, Giuliana; Duyzend, Michael H.; Schraiber, Joshua G.; Narvaiza, Iñigo; Sudmant, Peter H.; Penn, Osnat; Chiatante, Giorgia; Malig, Maika; Huddleston, John; Benner, Chris; Camponeschi, Francesca; Ciofi Baffoni, Simone; Stessman, Holly A. F.; Marchetto, Maria C. N.; Denman, Laura; Harshman, Lana; Baker, Carl; Raja, Archana; Penewit, Kelsi; Janke, Nicolette; Joyce Tang, W.; Ventura, Mario; Banci, Lucia; Antonacci, Francesca; Akey, Joshua M.; Amemiya, Chris T.; Gage, Fred H.; Reymond, Alexandre; Eichler, Evan E.
Evolution and diversity of copy number variation in the great ape lineage 1-gen-2013 Sudmant P., H; Huddleston, J; Catacchio, CLAUDIA RITA; Malig, M; Hillier, L. W.; Baker, C; Mohajeri, K; Kondova, I; Bontrop, R. E.; Persengiev, S; Antonacci, Francesca; Ventura, Mario; Prado Martinez, J; Great Ape Genome, Project; Marques Bonet, T; Eichler, E. E.
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication. 1-gen-2012 Dennis, My; Nuttle, X; Sudmant, Ph; Antonacci, Francesca; Graves, Ta; Nefedov, M; Rosenfeld, Ja; Sajjadian, S; Malig, M; Kotkiewicz, H; Curry, Cj; Shafer, S; Shaffer, Lg; de Jong, Pj; Wilson, Rk; Eichler, Ee
Evolutionary dynamics of the POTE gene family in human and nonhuman primates 1-gen-2020 Maggiolini, F. A. M.; Mercuri, L.; Antonacci, F.; Anaclerio, F.; Calabrese, F. M.; Lorusso, N.; L'Abbate, A.; Sorensen, M.; Giannuzzi, G.; Eichler, E. E.; Catacchio, C. R.; Ventura, M.
Evolutionary formation of new centromeres in macaque 1-gen-2007 Ventura, Mario; Antonacci, Francesca; Cardone, Mf; Stanyon, R; D'Addabbo, Pietro; Cellamare, A; Sprague, Lj; Eichler, Ee; Archidiacono, Nicoletta; Rocchi, Mariano