Interplay between DNA sequence and negative superhelicity drives R-loop structures

por Stolz, Robert, Sulthana, Shaheen, Hartono, Stella R., Malig, Maika, Benham, Craig J., Chedin, Frederic
Publicado 2019

Evolutionary dynamism of the primate LRRC37 gene family

por Giannuzzi, Giuliana, Siswara, Priscillia, Malig, Maika, Marques-Bonet, Tomas, Mullikin, James C., Ventura, Mario, Eichler, Evan E.
Publicado 2013

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

Copy number variation detection and genotyping from exome sequence data

por Krumm, Niklas, Sudmant, Peter H., Ko, Arthur, O'Roak, Brian J., Malig, Maika, Coe, Bradley P., Quinlan, Aaron R., Nickerson, Deborah A., Eichler, Evan E.
Publicado 2012

Epigenetic origin of evolutionary novel centromeres

por Tolomeo, Doron, Capozzi, Oronzo, Stanyon, Roscoe R., Archidiacono, Nicoletta, D’Addabbo, Pietro, Catacchio, Claudia R., Purgato, Stefania, Perini, Giovanni, Schempp, Werner, Huddleston, John, Malig, Maika, Eichler, Evan E., Rocchi, Mariano
Publicado 2017

Personalized Copy-Number and Segmental Duplication Maps using Next-Generation Sequencing

por 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.
Publicado 2009

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

Reconstructing complex regions of genomes using long-read sequencing technology

por 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.
Publicado 2014

Evolution and diversity of copy number variation in the great ape lineage

por 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.
Publicado 2013

Characterization of Missing Human Genome Sequences and Copy-number Polymorphic Insertions

por 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.
Publicado 2010

Large Deletions at the SHOX Locus in the Pseudoautosomal Region Are Associated with Skeletal Atavism in Shetland Ponies

por Rafati, Nima, Andersson, Lisa S., Mikko, Sofia, Feng, Chungang, Raudsepp, Terje, Pettersson, Jessica, Janecka, Jan, Wattle, Ove, Ameur, Adam, Thyreen, Gunilla, Eberth, John, Huddleston, John, Malig, Maika, Bailey, Ernest, Eichler, Evan E., Dalin, Göran, Chowdary, Bhanu, Andersson, Leif, Lindgren, Gabriella, Rubin, Carl-Johan
Publicado 2016

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

The evolution and population diversity of human-specific segmental duplications

por 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.
Publicado 2017

An evolutionary driver of interspersed segmental duplications in primates

por Cantsilieris, Stuart, Sunkin, Susan M., Johnson, Matthew E., Anaclerio, Fabio, Huddleston, John, Baker, Carl, Dougherty, Max L., Underwood, Jason G., Sulovari, Arvis, Hsieh, PingHsun, Mao, Yafei, Catacchio, Claudia Rita, Malig, Maika, Welch, AnneMarie E., Sorensen, Melanie, Munson, Katherine M., Jiang, Weihong, Girirajan, Santhosh, Ventura, Mario, Lamb, Bruce T., Conlon, Ronald A., Eichler, Evan E.
Publicado 2020

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

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

por Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H., Schraiber, Joshua G., Narvaiza, Iñigo, Sudmant, Peter H., Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly A.F., Marchetto, Maria C. N., Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W. Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M., Amemiya, Chris T., Gage, Fred H., Reymond, Alexandre, 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

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