Special Issue: A Tale of Genes and Genomes

por Ventura, Mario, Antonacci, Francesca
Publicado 2021

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 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

Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus

por Paparella, Annalisa, L’Abbate, Alberto, Palmisano, Donato, Chirico, Gerardina, Porubsky, David, Catacchio, Claudia R., Ventura, Mario, Eichler, Evan E., Maggiolini, Flavia A. M., Antonacci, Francesca
Publicado 2023

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

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 2018

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 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 2017

A high-resolution map of small-scale inversions in the gibbon genome

por 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
Publicado 2022

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 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

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

por Maggiolini, Flavia A. M., Cantsilieris, Stuart, D’Addabbo, Pietro, Manganelli, Michele, Coe, Bradley P., Dumont, Beth L., Sanders, Ashley D., Pang, Andy Wing Chun, Vollger, Mitchell R., Palumbo, Orazio, Palumbo, Pietro, Accadia, Maria, Carella, Massimo, Eichler, Evan E., Antonacci, Francesca
Publicado 2019

Recurrent inversion toggling and great ape genome evolution

por Porubsky, David, Sanders, Ashley D., Höps, Wolfram, Hsieh, PingHsun, Sulovari, Arvis, Li, Ruiyang, Mercuri, Ludovica, Sorensen, Melanie, Murali, Shwetha C., Gordon, David, Cantsilieris, Stuart, Pollen, Alex A., Ventura, Mario, Antonacci, Francesca, Marschall, Tobias, Korbel, Jan O., Eichler, Evan E.
Publicado 2020

Characterization of Missing Human Genome Sequences and Copy-number Polymorphic Insertions

por Kidd, Jeffrey M., Sampas, Nick, Antonacci, Francesca, Graves, Tina, Fulton, Robert, Hayden, Hillary S., Alkan, Can, Malig, Maika, Ventura, Mario, Giannuzzi, Giuliana, Kallicki, Joelle, Anderson, Paige, Tsalenko, Anya, Yamada, N. Alice, Tsang, Peter, Kaul, Rajinder, Wilson, Richard K., Bruhn, Laurakay, Eichler, Evan E.
Publicado 2010