Genome-wide tracking of unmethylated DNA Alu repeats in normal and cancer cells

by Rodriguez, Jairo, Vives, Laura, Jordà, Mireia, Morales, Cristina, Muñoz, Mar, Vendrell, Elisenda, Peinado, Miguel A.
Published 2008

Detection of structural variants and indels within exome data

by Karakoc, Emre, Alkan, Can, O’Roak, Brian J., Dennis, Megan, Vives, Laura, Mark, Kenneth, Rieder, Mark J., Nickerson, Debbie A., Eichler, Evan E.
Published 2011

Accelerated exon evolution within primate segmental duplications

by Lorente-Galdos, Belen, Bleyhl, Jonathan, Santpere, Gabriel, Vives, Laura, Ramírez, Oscar, Hernandez, Jessica, Anglada, Roger, Cooper, Gregory M, Navarro, Arcadi, Eichler, Evan E, Marques-Bonet, Tomas
Published 2013

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

by 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.
Published 2011

Estimating human mutation rate using autozygosity in a founder population

by 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.
Published 2012

Excess of rare, inherited truncating mutations in autism

by 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.
Published 2015

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

by 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.
Published 2012

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

by 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.
Published 2011

Structural Diversity and African Origin of the 17q21.31 Inversion Polymorphism

by 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 2012

De novo genic mutations among a Chinese autism spectrum disorder cohort

by Wang, Tianyun, Guo, Hui, Xiong, Bo, Stessman, Holly A.F., Wu, Huidan, Coe, Bradley P., Turner, Tychele N., Liu, Yanling, Zhao, Wenjing, Hoekzema, Kendra, Vives, Laura, Xia, Lu, Tang, Meina, Ou, Jianjun, Chen, Biyuan, Shen, Yidong, Xun, Guanglei, Long, Min, Lin, Janice, Kronenberg, Zev N., Peng, Yu, Bai, Ting, Li, Honghui, Ke, Xiaoyan, Hu, Zhengmao, Zhao, Jingping, Zou, Xiaobing, Xia, Kun, Eichler, Evan E.
Published 2016

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

by 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.
Published 2014

Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma

by Campbell, Catarina D., Mohajeri, Kiana, Malig, Maika, Hormozdiari, Fereydoun, Nelson, Benjamin, Du, Gaixin, Patterson, Kristen M., Eng, Celeste, Torgerson, Dara G., Hu, Donglei, Herman, Catherine, Chong, Jessica X., Ko, Arthur, O'Roak, Brian J., Krumm, Niklas, Vives, Laura, Lee, Choli, Roth, Lindsey A., Rodriguez-Cintron, William, Rodriguez-Santana, Jose, Brigino-Buenaventura, Emerita, Davis, Adam, Meade, Kelley, LeNoir, Michael A., Thyne, Shannon, Jackson, Daniel J., Gern, James E., Lemanske, Robert F., Shendure, Jay, Abney, Mark, Burchard, Esteban G., Ober, Carole, Eichler, Evan E.
Published 2014

Great ape genetic diversity and population history

by Prado-Martinez, Javier, Sudmant, Peter H., Kidd, Jeffrey M., Li, Heng, Kelley, Joanna L., Lorente-Galdos, Belen, Veeramah, Krishna R., Woerner, August E., O’Connor, Timothy D., Santpere, Gabriel, Cagan, Alexander, Theunert, Christoph, Casals, Ferran, Laayouni, Hafid, Munch, Kasper, Hobolth, Asger, Halager, Anders E., Malig, Maika, Hernandez-Rodriguez, Jessica, Hernando-Herraez, Irene, Prüfer, Kay, Pybus, Marc, Johnstone, Laurel, Lachmann, Michael, Alkan, Can, Twigg, Dorina, Petit, Natalia, Baker, Carl, Hormozdiari, Fereydoun, Fernandez-Callejo, Marcos, Dabad, Marc, Wilson, Michael L., Stevison, Laurie, Camprubí, Cristina, Carvalho, Tiago, Ruiz-Herrera, Aurora, Vives, Laura, Mele, Marta, Abello, Teresa, Kondova, Ivanela, Bontrop, Ronald E., Pusey, Anne, Lankester, Felix, Kiyang, John A., Bergl, Richard A., Lonsdorf, Elizabeth, Myers, Simon, Ventura, Mario, Gagneux, Pascal, Comas, David, Siegismund, Hans, Blanc, Julie, Agueda-Calpena, Lidia, Gut, Marta, Fulton, Lucinda, Tishkoff, Sarah A., Mullikin, James C., Wilson, Richard K., Gut, Ivo G., Gonder, Mary Katherine, Ryder, Oliver A., Hahn, Beatrice H., Navarro, Arcadi, Akey, Joshua M., Bertranpetit, Jaume, Reich, David, Mailund, Thomas, Schierup, Mikkel H., Hvilsom, Christina, Andrés, Aida M., Wall, Jeffrey D., Bustamante, Carlos D., Hammer, Michael F., Eichler, Evan E., Marques-Bonet, Tomas
Published 2013