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Titolo Data di pubblicazione Autore(i) File
Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas 1-gen-2012 Fieuw, A; Kumps, C; Schramm, A; Pattyn, F; Menten, B; Antonacci, Francesca; Sudmant, P; Schulte, Jh; Roy, Nv; Vergult, S; Buckley, Pg; Paepe, Ad; Noguera, R; Versteeg, R; Stallings, R; Eggert, A; Vandesompele, J; Preter, Kd; Speleman, F.
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
Structural diversity and African origin of the 17q21.31 inversion polymorphism.(*First two authors contributed equally to this work) 1-gen-2012 Steinberg, Km; Antonacci, F; Sudmant, P; Kidd, Jm; Campbell, Cd; Vives, L; Malig, M; Scheinfeldt, L; Beggs, W; Ibrahim, M; Lema, G; Nyambo, Tb; Omar, Sa; Bodo, Jm; Froment, A; Donnelly, Mp; Kidd, Kk; Tishkoff, Sa; Eichler, Ee
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.
Hominoid fission of chromosome 14/15 and the role of segmental duplications 1-gen-2013 Giannuzzi, G; Pazienza, M; Huddleston, J; Antonacci, Francesca; Malig, M; Vives, L; Eichler, Ee; Ventura, Mario
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.
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 1-gen-2013 Nuttle, X; Huddleston, J; O'Roak, B. J.; Antonacci, Francesca; Fichera, M; Romano, C; Shendure, J; Eichler, E. E.
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability 1-gen-2014 Antonacci, Francesca; Dennis, My; Huddleston, J; Sudmant, Ph; Steinberg, Km; Rosenfeld, Ja; Miroballo, M; Graves, Ta; Vives, L; Malig, M; Denman, L; Raja, A; Stuart, A; Tang, J; Munson, B; Shaffer, Lg; Amemiya, Ct; Wilson, Rk; Eichler, Ee
Reconstructing complex regions of genomes using long-read sequencing technology. 1-gen-2014 Huddleston, J; Ranade, S; Malig, M; Antonacci, Francesca; Chaisson, M; Hon, L; Sudmant, Ph; Graves, Ta; Alkan, C; Dennis, My; Wilson, Rk; Turner, Sw; Korlach, J; Eichler, E. E.
Resolving the complexity of the human genome using single-molecule sequencing 1-gen-2015 Chaisson, M. J. P.; Huddleston, J.; Dennis, M. Y.; Sudmant, P. H.; Malig, M.; Hormozdiari, F.; Antonacci, F.; Surti, U.; Sandstrom, R.; Boitano, M.; Landolin, J. M.; Stamatoyannopoulos, J. A.; Hunkapiller, M. W.; Korlach, J.; Eichler, E. E.
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.
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.
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.
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.
Inversion variants in human and primate genomes 1-gen-2018 Catacchio, Claudia Rita; Maggiolini, Flavia Angela Maria; D'Addabbo, Pietro; Bitonto, Miriana; Capozzi, Oronzo; Signorile, Martina Lepore; Miroballo, Mattia; Archidiacono, Nicoletta; Eichler, Evan E; Ventura, Mario; Antonacci, Francesca
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus 1-gen-2019 Maggiolini, F. A. M.; Cantsilieris, S.; D'Addabbo, P.; Manganelli, M.; Coe, B. P.; Dumont, B. L.; Sanders, A. D.; Pang, A. W. C.; Vollger, M. R.; Palumbo, O.; Palumbo, P.; Accadia, M.; Carella, M.; Eichler, E. E.; Antonacci, F.
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
Recurrent inversion toggling and great ape genome evolution 1-gen-2020 Porubsky, D.; Sanders, A. D.; Hops, W.; Hsieh, P. H.; Sulovari, A.; Li, R.; Mercuri, L.; Sorensen, M.; Murali, S. C.; Gordon, D.; Cantsilieris, S.; Pollen, A. A.; Ventura, M.; Antonacci, F.; Marschall, T.; Korbel, J. O.; Eichler, E. E.
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility 1-gen-2020 Warren, W. C.; Harris, R. A.; Haukness, M.; Fiddes, I. T.; Murali, S. C.; Fernandes, J.; Dishuck, P. C.; Storer, J. M.; Raveendran, M.; Hillier, L. W.; Porubsky, D.; Mao, Y.; Gordon, D.; Vollger, M. R.; Lewis, A. P.; Munson, K. M.; Devogelaere, E.; Armstrong, J.; Diekhans, M.; Walker, J. A.; Tomlinson, C.; Graves-Lindsay, T. A.; Kremitzki, M.; Salama, S. R.; Audano, P. A.; Escalona, M.; Maurer, N. W.; Antonacci, F.; Mercuri, L.; Maggiolini, F. A. M.; Catacchio, C. R.; Underwood, J. G.; O'Connor, D. H.; Sanders, A. D.; Korbel, J. O.; Ferguson, B.; Kubisch, H. M.; Picker, L.; Kalin, N. H.; Rosene, D.; Levine, J.; Abbott, D. H.; Gray, S. B.; Sanchez, M. M.; Kovacs-Balint, Z. A.; Kemnitz, J. W.; Thomasy, S. M.; Roberts, J. A.; Kinnally, E. L.; Capitanio, J. P.; Skene, J. H. P.; Platt, M.; Cole, S. A.; Green, R. E.; Ventura, M.; Wiseman, R. W.; Paten, B.; Batzer, M. A.; Rogers, J.; Eichler, E. E.
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution 1-gen-2020 Maria Maggiolini, F. A.; Sanders, A. D.; Shew, C. J.; Sulovari, A.; Mao, Y.; Puig, M.; Catacchio, C. R.; Dellino, M.; Palmisano, D.; Mercuri, L.; Bitonto, M.; Porubsky, D.; Caceres, M.; Eichler, E. E.; Ventura, M.; Dennis, M. Y.; Korbel, J. O.; Antonacci, F.
Mostrati risultati da 21 a 40 di 48
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