Special Issue: A Tale of Genes and Genomes

por Ventura, Mario, Antonacci, Francesca
Publicado en Genes (Basel) (2021)

Programmed loss of millions of base pairs from a vertebrate genome

por Smith, Jeramiah J., Antonacci, Francesca, Eichler, Evan E., Amemiya, Chris T.
Publicado 2009

Characterization of six human disease-associated inversion polymorphisms

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

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

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

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

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

Discovery of large genomic inversions using long range information

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

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

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

Diversity of Human Copy Number Variation and Multicopy Genes

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

Death and Resurrection of the Human IRGM Gene

por 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.
Publicado 2009

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

por 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.
Publicado 2012

Inversion variants in human and primate genomes

por 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
Publicado en Genome Res (2018)

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

por 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
Publicado 2011

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

por 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
Publicado 2010

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

por 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
Publicado en Genes (Basel) (2020)

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

por 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.
Publicado 2009

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

por 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.
Publicado en Genome Biol (2017)

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

por 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
Publicado en Genes (Basel) (2021)

Reconstructing complex regions of genomes using long-read sequencing technology

por 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.
Publicado 2014

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

por 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.
Publicado 2013

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

por 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.
Publicado en Nature (2014)