Special Issue: A Tale of Genes and Genomes

بواسطة Ventura, Mario, Antonacci, Francesca
الحاوية / القاعدة Genes (Basel) (2021)

Programmed loss of millions of base pairs from a vertebrate genome

بواسطة Smith, Jeramiah J., Antonacci, Francesca, Eichler, Evan E., Amemiya, Chris T.
منشور في 2009

Characterization of six human disease-associated inversion polymorphisms

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

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

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

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

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

Discovery of large genomic inversions using long range information

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

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

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

Diversity of Human Copy Number Variation and Multicopy Genes

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

Death and Resurrection of the Human IRGM Gene

بواسطة 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.
منشور في 2009

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

بواسطة 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.
منشور في 2012

Inversion variants in human and primate genomes

بواسطة 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
الحاوية / القاعدة Genome Res (2018)

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

بواسطة 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
منشور في 2011

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

بواسطة 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
منشور في 2010

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

بواسطة 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
الحاوية / القاعدة Genes (Basel) (2020)

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

بواسطة 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.
منشور في 2009

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

بواسطة 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.
الحاوية / القاعدة Genome Biol (2017)

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

بواسطة 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
الحاوية / القاعدة Genes (Basel) (2021)

Reconstructing complex regions of genomes using long-read sequencing technology

بواسطة 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.
منشور في 2014

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

بواسطة 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.
منشور في 2013

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

بواسطة 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.
الحاوية / القاعدة Nature (2014)