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

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

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

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

Detection of structural variants and indels within exome data

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

The evolution of African great ape subtelomeric heterochromatin and the fusion of human chromosome 2

por Ventura, Mario, Catacchio, Claudia R., Sajjadian, Saba, Vives, Laura, Sudmant, Peter H., Marques-Bonet, Tomas, Graves, Tina A., Wilson, Richard K., Eichler, Evan E.
Publicado 2012

Accelerated exon evolution within primate segmental duplications

por 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
Publicado 2013

Excess of rare, inherited truncating mutations in autism

por 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.
Publicado 2015

Estimating human mutation rate using autozygosity in a founder population

por 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.
Publicado 2012

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

por 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.
Publicado 2011

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

por 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.
Publicado 2011

Discovery and genotyping of structural variation from long-read haploid genome sequence data

por 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.
Publicado 2017

A large, complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

por 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.
Publicado 2010

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

por 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.
Publicado 2014

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

por 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.
Publicado 2012

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

por 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.
Publicado 2012

Role of targeted therapies in rheumatic patients on COVID-19 outcomes: results from the COVIDSER study

por 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
Publicado 2021

De novo genic mutations among a Chinese autism spectrum disorder cohort

por 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.
Publicado 2016

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

por 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.
Publicado 2014

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

por Stessman, Holly A. F., Xiong, Bo, Coe, Bradley P., Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N., Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R. Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David, Scheffer, Ingrid E., Delatycki, Martin B., Lockhart, Paul J., Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A., Eichler, Evan E.
Publicado 2017

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

por Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.
Publicado 2010

Great ape genetic diversity and population history

por 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
Publicado 2013