检索结果 - Vives, Laura
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Corrigendum: The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2 由 Ventura, Mario, Catacchio, Claudia R., Sajjadian, Saba, Vives, Laura, Sudmant, Peter H., Marques-Bonet, Tomas, Graves, Tina A., Wilson, Richard K., Eichler, Evan E.
出版 2017Text -
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Excess of rare, inherited truncating mutations in autism 由 Krumm, Niklas, Turner, Tychele N., Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P., Stessman, Holly A., He, Zong-Xiao, Leal, Suzanne M., Bernier, Raphael, Eichler, Evan E.
出版 2015Text -
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Estimating human mutation rate using autozygosity in a founder population 由 Campbell, Catarina D., Chong, Jessica X., Malig, Maika, Ko, Arthur, Dumont, Beth L., Han, Lide, Vives, Laura, O’Roak, Brian J., Sudmant, Peter H., Shendure, Jay, Abney, Mark, Ober, Carole, Eichler, Evan E.
出版 2012Text -
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Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 由 Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P., Baker, Carl, Vives, Laura, Vu, Tiffany H., Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B., Silengo, Margherita, Warren, Stephen T., Moreno, Carlos S., Fichera, Marco, Romano, Corrado, Raskind, Wendy H., Eichler, Evan E.
出版 2011Text -
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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations 由 O’Roak, Brian J., Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J., Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P., Ng, Sarah B., Baker, Carl, Rieder, Mark J., Nickerson, Deborah A., Bernier, Raphael, Fisher, Simon E., Shendure, Jay, Eichler, Evan E.
出版 2011Text -
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Discovery and genotyping of structural variation from long-read haploid genome sequence data 由 Huddleston, John, Chaisson, Mark J.P., Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A., Munson, Katherine M., Kronenberg, Zev N., Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K., Eichler, Evan E.
出版 2017Text -
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Corrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data 由 Huddleston, John, Chaisson, Mark J.P., Steinberg, Karyn Meltz, Warren, Wes, Hoekzema, Kendra, Gordon, David, Graves-Lindsay, Tina A., Munson, Katherine M., Kronenberg, Zev N., Vives, Laura, Peluso, Paul, Boitano, Matthew, Chin, Chen-Shin, Korlach, Jonas, Wilson, Richard K., Eichler, Evan E.
出版 2018Text -
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A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk 由 Antonacci, Francesca, Kidd, Jeffrey M., Marques-Bonet, Tomas, Teague, Brian, Ventura, Mario, Girirajan, Santhosh, Alkan, Can, Campbell, Catarina D., Vives, Laura, Malig, Maika, Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Graves, Tina A., Wilson, Richard K., Schwartz, David C., Eichler, Evan E.
出版 2010Text -
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Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability 由 Antonacci, Francesca, Dennis, Megan Y., Huddleston, John, Sudmant, Peter H., Steinberg, Karyn Meltz, Rosenfeld, Jill A., Miroballo, Mattia, Graves, Tina A., Vives, Laura, Malig, Maika, Denman, Laura, Raja, Archana, Stuart, Andrew, Tang, Joyce, Munson, Brenton, Shaffer, Lisa G., Amemiya, Chris T., Wilson, Richard K., Eichler, Evan E.
出版 2014Text -
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Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism 由 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.
出版 2012Text -
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations 由 O’Roak, Brian J., Vives, Laura, Girirajan, Santhosh, Karakoc, Emre, Krumm, Nik, Coe, Bradley P., Levy, Roie, Ko, Arthur, Lee, Choli, Smith, Joshua D., Turner, Emily H., Stanaway, Ian B., Vernot, Benjamin, Malig, Maika, Baker, Carl, Reilly, Beau, Akey, Joshua M., Borenstein, Elhanan, Rieder, Mark J., Nickerson, Deborah A., Bernier, Raphael, Shendure, Jay, Eichler, Evan E.
出版 2012Text -
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Role of targeted therapies in rheumatic patients on COVID-19 outcomes: results from the COVIDSER study 由 Álvaro Gracia, Jose María, Sanchez-Piedra, Carlos, Manero, Javier, Ruiz-Lucea, María Ester, López-Vives, Laura, Bohorquez, Cristina, Martinez-Barrio, Julia, Bonilla, Gema, Vela, Paloma, García-Villanueva, María Jesús, Navío-Marco, María Teresa, Pavía, Marina, Galindo, María, Erausquin, Celia, Gonzalez-Gay, Miguel A, Rua-Figueroa, Inigo, Pego-Reigosa, Jose M, Castrejon, Isabel, Sanchez-Costa, Jesús T, González-Dávila, Enrique, Diaz-Gonzalez, Federico
出版 2021Text