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Resolving the complexity of the human genome using single-molecule sequencing
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.
Published in Nature (London) (29.01.2015)
Published in Nature (London) (29.01.2015)
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Journal Article
Personalized copy number and segmental duplication maps using next-generation sequencing
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
Published in Nature genetics (01.10.2009)
Published in Nature genetics (01.10.2009)
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Journal Article
Reconstructing complex regions of genomes using long-read sequencing technology
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.
Published in Genome research (01.04.2014)
Published in Genome research (01.04.2014)
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Journal Article
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes
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.
Published in Science (American Association for the Advancement of Science) (18.10.2019)
Published in Science (American Association for the Advancement of Science) (18.10.2019)
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Journal Article
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Dennis, Megan Y., Nuttle, Xander, Sudmant, Peter H., Antonacci, Francesca, Graves, Tina A., Nefedov, Mikhail, Rosenfeld, Jill A., Sajjadian, Saba, Malig, Maika, Kotkiewicz, Holland, Curry, Cynthia J., Shafer, Susan, Shaffer, Lisa G., de Jong, Pieter J., Wilson, Richard K., Eichler, Evan E.
Published in Cell (11.05.2012)
Published in Cell (11.05.2012)
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Journal Article
Diversity of Human Copy Number Variation and Multicopy Genes
Sudmant, Peter H., Kitzman, Jacob O., Antonacci, Francesca, Alkan, Can, Malig, Maika, Tsalenko, Anya, Sampas, Nick, Bruhn, Laurakay, Shendure, Jay, Eichler, Evan E.
Published in Science (American Association for the Advancement of Science) (29.10.2010)
Published in Science (American Association for the Advancement of Science) (29.10.2010)
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Journal Article
Mapping and sequencing of structural variation from eight human genomes
Kidd, Jeffrey M., Cooper, Gregory M., Donahue, William F., Hayden, Hillary S., Sampas, Nick, Graves, Tina, Hansen, Nancy, Teague, Brian, Alkan, Can, Antonacci, Francesca, Haugen, Eric, Zerr, Troy, Yamada, N. Alice, Tsang, Peter, Newman, Tera L., Tüzün, Eray, Cheng, Ze, Ebling, Heather M., Tusneem, Nadeem, David, Robert, Gillett, Will, Phelps, Karen A., Weaver, Molly, Saranga, David, Brand, Adrianne, Tao, Wei, Gustafson, Erik, McKernan, Kevin, Chen, Lin, Malig, Maika, Smith, Joshua D., Korn, Joshua M., McCarroll, Steven A., Altshuler, David A., Peiffer, Daniel A., Dorschner, Michael, Stamatoyannopoulos, John, Schwartz, David, Nickerson, Deborah A., Mullikin, James C., Wilson, Richard K., Bruhn, Laurakay, Olson, Maynard V., Kaul, Rajinder, Smith, Douglas R., Eichler, Evan E.
Published in Nature (01.05.2008)
Published in Nature (01.05.2008)
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Journal Article
Inversion variants in human and primate genomes
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
Published in Genome research (01.06.2018)
Published in Genome research (01.06.2018)
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Journal Article
The BioSUD Biobank as a genomic resource for substance use disorders in Italy
Ribatti, Raffaella Maria, de Gennaro, Luciana, Daponte, Alessia, Cozzoli, Danilo, Quaranta, Maria Rita, Ostuni, Angelo, Casanova, Margherita, Ariano, Vincenza, Leone, Vincenzo, Perrone, Francesco, Bona, Salvatore Della, Lacalamita, Angela, De Fazio, Salvatore, Lorusso, Daniela, Metspalu, Mait, Torroni, Antonio, Olivieri, Anna, Capelli, Cristian, Antonacci, Francesca, Catacchio, Claudia Rita, Ventura, Mario, Montinaro, Francesco
Published in Scientific reports (01.07.2025)
Published in Scientific reports (01.07.2025)
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Journal Article
Evolution and diversity of copy number variation in the great ape lineage
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.
Published in Genome research (01.09.2013)
Published in Genome research (01.09.2013)
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Journal Article
The birth of a human-specific neural gene by incomplete duplication and gene fusion
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.
Published in Genome Biology (09.03.2017)
Published in Genome Biology (09.03.2017)
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Journal Article
Structural diversity and African origin of the 17q21.31 inversion polymorphism
Steinberg, Karyn Meltz, Antonacci, Francesca, Sudmant, Peter H, Kidd, Jeffrey M, Campbell, Catarina D, Vives, Laura, Malig, Maika, Scheinfeldt, Laura, Beggs, William, Ibrahim, Muntaser, Lema, Godfrey, Nyambo, Thomas B, Omar, Sabah A, Bodo, Jean-Marie, Froment, Alain, Donnelly, Michael P, Kidd, Kenneth K, Tishkoff, Sarah A, Eichler, Evan E
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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Journal Article
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
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
Published in PLoS genetics (27.03.2019)
Published in PLoS genetics (27.03.2019)
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Journal Article
Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications
Montanari, Annalaura, Caforio, Paola, Paparella, Annalisa, Casieri, Paola, Nuzzi, Maria Cristina, Antonucci, Maria Fatima, Catacchio, Claudia Rita, Tampoia, Marilina, Gentile, Mattia, Bucci, Roberta, Cecinati, Valerio, Cellamare, Angelo, Antonacci, Francesca
Published in Molecular cytogenetics (05.12.2024)
Published in Molecular cytogenetics (05.12.2024)
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Journal Article
The evolution and population diversity of human-specific segmental duplications
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.
Published in Nature ecology & evolution (17.02.2017)
Published in Nature ecology & evolution (17.02.2017)
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Journal Article
Characterization of missing human genome sequences and copy-number polymorphic insertions
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
Published in Nature methods (01.05.2010)
Published in Nature methods (01.05.2010)
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Journal Article
Evolutionary toggling of the MAPT 17q21.31 inversion region
Zody, Michael C, Jiang, Zhaoshi, Fung, Hon-Chung, Antonacci, Francesca, Hillier, LaDeana W, Cardone, Maria Francesca, Graves, Tina A, Kidd, Jeffrey M, Cheng, Ze, Abouelleil, Amr, Chen, Lin, Wallis, John, Glasscock, Jarret, Wilson, Richard K, Reily, Amy Denise, Duckworth, Jaime, Ventura, Mario, Hardy, John, Warren, Wesley C, Eichler, Evan E
Published in Nature genetics (01.09.2008)
Published in Nature genetics (01.09.2008)
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Journal Article