Special Issue: A Tale of Genes and Genomes

由 Ventura, Mario, Antonacci, Francesca
發表在 Genes (Basel) (2021)

Programmed loss of millions of base pairs from a vertebrate genome

由 Smith, Jeramiah J., Antonacci, Francesca, Eichler, Evan E., Amemiya, Chris T.
出版 2009

Characterization of six human disease-associated inversion polymorphisms

由 Antonacci, Francesca, Kidd, Jeffrey M., Marques-Bonet, Tomas, Ventura, Mario, Siswara, Priscillia, Jiang, Zhaoshi, Eichler, Evan E.
出版 2009

Hominoid fission of chromosome 14/15 and the role of segmental duplications

由 Giannuzzi, Giuliana, Pazienza, Michele, Huddleston, John, Antonacci, Francesca, Malig, Maika, Vives, Laura, Eichler, Evan E., Ventura, Mario
出版 2013

Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion

由 Nuttle, Xander, Huddleston, John, O'Roak, Brian J., Antonacci, Francesca, Fichera, Marco, Romano, Corrado, Shendure, Jay, Eichler, Evan E.
出版 2013

Discovery of large genomic inversions using long range information

由 Eslami Rasekh, Marzieh, Chiatante, Giorgia, Miroballo, Mattia, Tang, Joyce, Ventura, Mario, Amemiya, Chris T., Eichler, Evan E., Antonacci, Francesca, Alkan, Can
發表在 BMC Genomics (2017)

Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analyses

由 Hurle, Belen, Marques-Bonet, Tomas, Antonacci, Francesca, Hughes, Inna, Ryan, Joseph F, Eichler, Evan E, Ornitz, David M, Green, Eric D
出版 2011

Diversity of Human Copy Number Variation and Multicopy Genes

由 Sudmant, Peter H., Kitzman, Jacob O., Antonacci, Francesca, Alkan, Can, Malig, Maika, Tsalenko, Anya, Sampas, Nick, Bruhn, Laurakay, Shendure, Jay, Eichler, Evan E.
出版 2010

Death and Resurrection of the Human IRGM Gene

由 Bekpen, Cemalettin, Marques-Bonet, Tomas, Alkan, Can, Antonacci, Francesca, Leogrande, Maria Bruna, Ventura, Mario, Kidd, Jeffrey M., Siswara, Priscillia, Howard, Jonathan C., Eichler, Evan E.
出版 2009

Autosomal Dominant Familial Dyskinesia and Facial Myokymia: Single Exome Sequencing Identifies a Mutation in Adenylate Cyclase 5

由 Chen, Ying-Zhang, Matsushita, Mark M., Robertson, Peggy, Rieder, Mark, Girirajan, Santhosh, Antonacci, Francesca, Lipe, Hillary, Eichler, Evan E., Nickerson, Deborah A., Bird, Thomas D., Raskind, Wendy H.
出版 2012

Inversion variants in human and primate genomes

由 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
發表在 Genome Res (2018)

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

由 Alkan, Can, Cardone, Maria Francesca, Catacchio, Claudia Rita, Antonacci, Francesca, O'Brien, Stephen J., Ryder, Oliver A., Purgato, Stefania, Zoli, Monica, Della Valle, Giuliano, Eichler, Evan E., Ventura, Mario
出版 2011

Copy Number Variation Analysis in Single-Suture Craniosynostosis: Multiple Rare Variants Including RUNX2 Duplication in Two Cousins With Metopic Craniosynostosis

由 Mefford, Heather C, Shafer, Neil, Antonacci, Francesca, Tsai, Jesse M, Park, Sarah S, Hing, Anne V, Rieder, Mark J, Smyth, Matthew D, Speltz, Matthew L, Eichler, Evan E, Cunningham, Michael L
出版 2010

Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates

由 Maggiolini, Flavia Angela Maria, Mercuri, Ludovica, Antonacci, Francesca, Anaclerio, Fabio, Calabrese, Francesco Maria, Lorusso, Nicola, L’Abbate, Alberto, Sorensen, Melanie, Giannuzzi, Giuliana, Eichler, Evan E., Catacchio, Claudia Rita, Ventura, Mario
發表在 Genes (Basel) (2020)

Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing

由 Alkan, Can, Kidd, Jeffrey M., Marques-Bonet, Tomas, Aksay, Gozde, Antonacci, Francesca, Hormozdiari, Fereydoun, Kitzman, Jacob O., Baker, Carl, Malig, Maika, Mutlu, Onur, Sahinalp, S. Cenk, Gibbs, Richard A., Eichler, Evan E.
出版 2009

The birth of a human-specific neural gene by incomplete duplication and gene fusion

由 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.
發表在 Genome Biol (2017)

Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12

由 Cellamare, Angelo, Coccaro, Nicoletta, Nuzzi, Maria Cristina, Casieri, Paola, Tampoia, Marilina, Maggiolini, Flavia Angela Maria, Gentile, Mattia, Ficarella, Romina, Ponzi, Emanuela, Conserva, Maria Rosa, Cardarelli, Laura, Panarese, Annunziata, Antonacci, Francesca, Gesario, Antonia
發表在 Genes (Basel) (2021)

Reconstructing complex regions of genomes using long-read sequencing technology

由 Huddleston, John, Ranade, Swati, Malig, Maika, Antonacci, Francesca, Chaisson, Mark, Hon, Lawrence, Sudmant, Peter H., Graves, Tina A., Alkan, Can, Dennis, Megan Y., Wilson, Richard K., Turner, Stephen W., Korlach, Jonas, Eichler, Evan E.
出版 2014

Evolution and diversity of copy number variation in the great ape lineage

由 Sudmant, Peter H., Huddleston, John, Catacchio, Claudia R., Malig, Maika, Hillier, LaDeana W., Baker, Carl, Mohajeri, Kiana, Kondova, Ivanela, Bontrop, Ronald E., Persengiev, Stephan, Antonacci, Francesca, Ventura, Mario, Prado-Martinez, Javier, Marques-Bonet, Tomas, Eichler, Evan E.
出版 2013

Resolving the complexity of the human genome using single-molecule sequencing

由 Chaisson, Mark J.P., Huddleston, John, Dennis, Megan Y., Sudmant, Peter H., Malig, Maika, Hormozdiari, Fereydoun, Antonacci, Francesca, Surti, Urvashi, Sandstrom, Richard, Boitano, Matthew, Landolin, Jane M., Stamatoyannopoulos, John A., Hunkapiller, Michael W., Korlach, Jonas, Eichler, Evan E.
發表在 Nature (2014)