ANTONACCI, FRANCESCA

ANTONACCI, FRANCESCA  

DIPARTIMENTO DI BIOSCIENZE , BIOTECNOLOGIE E AMBIENTE  

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Titolo Data di pubblicazione Autore(i) File
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
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.
The birth of a human-specific neural gene by incomplete duplication and gene fusion 1-gen-2017 Dougherty, Max L.; Nuttle, Xander; Penn, Osnat; Nelson, Bradley J.; Huddleston, John; Baker, Carl; Harshman, Lana; Duyzend, Michael H.; Ventura, Mario; Antonacci, Francesca; Sandstrom, Richard; Dennis, Megan Y.; Eichler, Evan E.
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. (*Last two authors contributed equally as corresponding authors) 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.
The evolution and population diversity of human-specific segmental duplications 1-gen-2017 Dennis, Megan Y.; Harshman, Lana; Nelson, Bradley J.; Penn, Osnat; Cantsilieris, Stuart; Huddleston, John; Antonacci, Francesca; Penewit, Kelsi; Denman, Laura; Raja, Archana; Baker, Carl; Mark, Kenneth; Malig, Maika; Janke, Nicolette; Espinoza, Claudia; Stessman, Holly A. F.; Nuttle, Xander; Hoekzema, Kendra; Lindsay-graves, Tina A.; Wilson, Richard K.; Eichler, Evan 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
Evolutionary structural dynamics of macaque chromosome 6 neocentromere 1-gen-2006 Ventura, Mario; Antonacci, Francesca; Cardone, M. F.; Stanyon, R.; D'Addabbo, Pietro; Cellamare, A.; Sprague, L. J.; Eichler, E. E.; Archidiacono, Nicoletta; Rocchi, M.
Evolutionary toggling of the MAPT 17q21.31 inversion region. 1-gen-2008 Zody, Mc; Jiang, Z; Fung, Hc; Antonacci, Francesca; Hillier, Lw; Cardone, Mf; Graves, Ta; Kidd, Jm; Cheng, Z; Abouelleil, A; Chen, L; Wallis, J; Glasscock, J; Wilson, Rk; Reily, Ad; Duckworth, J; Ventura, Mario; Hardy, J; Warren, Wc; Eichler, Ee