檢索結果 - Francesca Antonacci

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  1. 1
    Programmed loss of millions of base pairs from a vertebrate genome

    Programmed loss of millions of base pairs from a vertebrate genome 由 Jeramiah J. Smith, Francesca Antonacci, Evan E. Eichler, Chris T. Amemiya

    出版 2009
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  2. 2
    Characterization of six human disease-associated inversion polymorphisms

    Characterization of six human disease-associated inversion polymorphisms 由 Francesca Antonacci, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, Evan E. Eichler

    出版 2009
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  3. 3
    Diversity of Human Copy Number Variation and Multicopy Genes

    Diversity of Human Copy Number Variation and Multicopy Genes 由 Peter H. Sudmant, Jacob O. Kitzman, Francesca Antonacci, Can Alkan, Maika Malig, Anya Tsalenko, Nick Sampas, Laurakay Bruhn, Jay Shendure, Evan E. Eichler

    出版 2010
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  4. 4
    Death and Resurrection of the Human IRGM Gene

    Death and Resurrection of the Human IRGM Gene 由 Cemalettin Bekpen, Tomàs Marquès‐Bonet, Can Alkan, Francesca Antonacci, Maria Bruna Leogrande, Mario Ventura, Jeffrey M. Kidd, Priscillia Siswara, Jonathan C. Howard, Evan E. Eichler

    出版 2009
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  5. 5
    Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis

    Copy number variation analysis in single‐suture craniosynostosis: Multiple rare variants including <i>RUNX2</i> duplication in two cousins with metopic craniosynostosis 由 Heather C Mefford, Neil Shafer, Francesca Antonacci, Jesse Tsai, Sarah S. Park, Anne Hing, Mark J. Rieder, Matthew D. Smyth, Matthew L. Speltz, Evan E. Eichler, Michael L. Cunningham

    出版 2010
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  6. 6
    Autosomal Dominant Familial Dyskinesia and Facial Myokymia

    Autosomal Dominant Familial Dyskinesia and Facial Myokymia 由 Ying Zhang Chen, Mark Matsushita, Peggy D. Robertson, Mark J. Rieder, Santhosh Girirajan, Francesca Antonacci, Hillary Lipe, Evan E. Eichler, Deborah A. Nickerson, Thomas D. Bird, Wendy H. Raskind

    出版 2012
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  7. 7
    Personalized copy number and segmental duplication maps using next-generation sequencing

    Personalized copy number and segmental duplication maps using next-generation sequencing 由 Can Alkan, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, Gozde Aksay, Francesca Antonacci, Fereydoun Hormozdiari, Jacob O. Kitzman, Carl Baker, Maika Malig, Onur Mutlu, S. Cenk Şahinalp, Richard A. Gibbs, Evan E. Eichler

    出版 2009
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  8. 8
    The birth of a human-specific neural gene by incomplete duplication and gene fusion

    The birth of a human-specific neural gene by incomplete duplication and gene fusion 由 Max L. Dougherty, Xander Nuttle, Osnat Penn, Bradley J. Nelson, John Huddleston, Carl Baker, Lana Harshman, Michael H. Duyzend, Mario Ventura, Francesca Antonacci, Richard Sandstrom, Megan Y. Dennis, Evan E. Eichler

    出版 2017
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  9. 9
    Reconstructing complex regions of genomes using long-read sequencing technology

    Reconstructing complex regions of genomes using long-read sequencing technology 由 John Huddleston, Swati Ranade, Maika Malig, Francesca Antonacci, Mark Chaisson, Lawrence Hon, Peter H. Sudmant, Tina Graves, Can Alkan, Megan Y. Dennis, Richard K. Wilson, Stephen W. Turner, Jonas Korlach, Evan E. Eichler

    出版 2014
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  10. 10
    Resolving the complexity of the human genome using single-molecule sequencing

    Resolving the complexity of the human genome using single-molecule sequencing 由 Mark Chaisson, John Huddleston, Megan Y. Dennis, Peter H. Sudmant, Maika Malig, Fereydoun Hormozdiari, Francesca Antonacci, Urvashi Surti, Richard Sandstrom, Matthew Boitano, Jane M. Landolin, J Stamatoyannopoulos, Michael W. Hunkapiller, Jonas Korlach, Evan E. Eichler

    出版 2014
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  11. 11
    Evolution and diversity of copy number variation in the great ape lineage

    Evolution and diversity of copy number variation in the great ape lineage 由 Peter H. Sudmant, John Huddleston, Claudia Rita Catacchio, Maika Malig, LaDeana W. Hillier, Carl Baker, Kiana Mohajeri, Ivanela Kondova, Ronald E. Bontrop, Stephan P. Persengiev, Francesca Antonacci, Mario Ventura, Javier Prado-Martinez, Tomàs Marquès‐Bonet, Evan E. Eichler

    出版 2013
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  12. 12
    Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

    Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication 由 Megan Y. Dennis, Xander Nuttle, Peter H. Sudmant, Francesca Antonacci, Tina Graves, Mikhail Nefedov, Jill A. Rosenfeld, Saba Sajjadian, Maika Malig, Holland Kotkiewicz, Cynthia J. Curry, Susan Shafer, Lisa G. Shaffer, Pieter J. de Jong, Richard K. Wilson, Evan E. Eichler

    出版 2012
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  13. 13
    Recurrent inversion toggling and great ape genome evolution

    Recurrent inversion toggling and great ape genome evolution 由 David Porubský, Ashley D. Sanders, Wolfram Höps, PingHsun Hsieh, Arvis Sulovari, Ruiyang Li, Ludovica Mercuri, Melanie Sorensen, Shwetha C. Murali, David Gordon, Stuart Cantsilieris, Alex A. Pollen, Mario Ventura, Francesca Antonacci, Tobias Marschall, Jan O. Korbel, Evan E. Eichler

    出版 2020
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  14. 14
    A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

    A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk 由 Francesca Antonacci, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, Brian Teague, Mario Ventura, Santhosh Girirajan, Can Alkan, Colin Campbell, Laura Vives, Maika Malig, Jill A. Rosenfeld, Blake C. Ballif, Lisa G. Shaffer, Tina Graves, Richard K. Wilson, David C. Schwartz, Evan E. Eichler

    出版 2010
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  15. 15
    Characterization of missing human genome sequences and copy-number polymorphic insertions

    Characterization of missing human genome sequences and copy-number polymorphic insertions 由 Jeffrey M. Kidd, Nick Sampas, Francesca Antonacci, Tina Graves, Robert S. Fulton, Hillary S. Hayden, Can Alkan, Maika Malig, Mario Ventura, Giuliana Giannuzzi, Joelle Kallicki, Paige Anderson, Anya Tsalenko, N. Alice Yamada, Peter Tsang, Rajinder Kaul, Richard K. Wilson, Laurakay Bruhn, Evan E. Eichler

    出版 2010
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  16. 16
    Structural diversity and African origin of the 17q21.31 inversion polymorphism

    Structural diversity and African origin of the 17q21.31 inversion polymorphism 由 Karyn Meltz Steinberg, Francesca Antonacci, Peter H. Sudmant, Jeffrey M. Kidd, Colin Campbell, Laura Vives, Maika Malig, Laura Scheinfeldt, William Beggs, Muntaser E. Ibrahim, Godfrey Lema, Thomas Nyambo, Sabah A. Omar, Jean-Marie Bodo, Alain Froment, Michael P. Donnelly, Kenneth K. Kídd, Sarah A. Tishkoff, Evan E. Eichler

    出版 2012
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  17. 17
    Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

    Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability 由 Francesca Antonacci, Megan Y. Dennis, John Huddleston, Peter H. Sudmant, Karyn Meltz Steinberg, Jill A. Rosenfeld, Mattia Miroballo, Tina Graves, Laura Vives, Maika Malig, Laura Denman, Archana N. Raja, Andrew B. Stuart, Joyce Tang, Brenton P. Munson, Lisa G. Shaffer, Chris T. Amemiya, Richard K. Wilson, Evan E. Eichler

    出版 2014
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  18. 18
    Evolutionary toggling of the MAPT 17q21.31 inversion region

    Evolutionary toggling of the MAPT 17q21.31 inversion region 由 Michael C. Zody, Zhaoshi Jiang, Hon‐Chung Fung, Francesca Antonacci, LaDeana W. Hillier, Maria Francesca Cardone, Tina Graves, Jeffrey M. Kidd, Ze Cheng, Amr Abouelleil, Lin Chen, John Wallis, Jarret Glasscock, Richard K. Wilson, Amy Denise Reily, Jaime Duckworth, Mario Ventura, John Hardy, Wesley C. Warren, Evan E. Eichler

    出版 2008
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  19. 19
    Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes

    Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes 由 PingHsun Hsieh, Mitchell R. Vollger, Vy Dang, David Porubský, Carl Baker, Stuart Cantsilieris, Kendra Hoekzema, Alexandra P. Lewis, Katherine M. Munson, Melanie Sorensen, Zev Kronenberg, Shwetha C. Murali, Bradley J. Nelson, Giorgia Chiatante, Flavia Angela Maria Maggiolini, Hélène Blanché, Jason G. Underwood, Francesca Antonacci, Jean‐François Deleuze, Evan E. Eichler

    出版 2019
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  20. 20
    The evolution and population diversity of human-specific segmental duplications

    The evolution and population diversity of human-specific segmental duplications 由 Megan Y. Dennis, Lana Harshman, Bradley J. Nelson, Osnat Penn, Stuart Cantsilieris, John Huddleston, Francesca Antonacci, Kelsi Penewit, Laura Denman, Archana N. Raja, Carl Baker, Kenneth M. K. Mark, Maika Malig, Nicolette Janke, Claudia Y. Espinoza, Holly A.F. Stessman, Xander Nuttle, Kendra Hoekzema, Tina A. Lindsay-Graves, Richard K. Wilson, Evan E. Eichler

    出版 2017
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