Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing

by Yang, Xiangyu, Mao, Yafei, Wang, Xuan-Kai, Ma, Dong-Ni, Xu, Zhen, Gong, Neng, Henning, Barbara, Zhang, Xu, He, Guang, Shi, Yong-Yong, Eichler, Evan E., Li, Zhi-Qiang, Takahashi, Eiki, Li, Wei-Dong
Published 2023

Independent centromere formation in a capricious, gene-free domain of chromosome 13q21 in Old World monkeys and pigs

by Cardone, Maria Francesca, Alonso, Alicia, Pazienza, Michele, Ventura, Mario, Montemurro, Gabriella, Carbone, Lucia, de Jong, Pieter J, Stanyon, Roscoe, D'Addabbo, Pietro, Archidiacono, Nicoletta, She, Xinwei, Eichler, Evan E, Warburton, Peter E, Rocchi, Mariano
Published 2006

Reconstructing complex regions of genomes using long-read sequencing technology

by 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.
Published 2014

Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline

by Stong, Nicholas, Deng, Zhong, Gupta, Ravi, Hu, Sufen, Paul, Shiela, Weiner, Amber K., Eichler, Evan E., Graves, Tina, Fronick, Catrina C., Courtney, Laura, Wilson, Richard K., Lieberman, Paul M., Davuluri, Ramana V., Riethman, Harold
Published 2014

Single haplotype assembly of the human genome from a hydatidiform mole

by Steinberg, Karyn Meltz, Schneider, Valerie A., Graves-Lindsay, Tina A., Fulton, Robert S., Agarwala, Richa, Huddleston, John, Shiryev, Sergey A., Morgulis, Aleksandr, Surti, Urvashi, Warren, Wesley C., Church, Deanna M., Eichler, Evan E., Wilson, Richard K.
Published 2014

Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats

by Gao, Li-Zhi, Liu, Yun-Long, Zhang, Dan, Li, Wei, Gao, Ju, Liu, Yuan, Li, Kui, Shi, Chao, Zhao, Yuan, Zhao, You-Jie, Jiao, Jun-Ying, Mao, Shu-Yan, Gao, Cheng-Wen, Eichler, Evan E.
Published 2019

Insufficient Evidence for “Autism-Specific” Genes

by Myers, Scott M., Challman, Thomas D., Bernier, Raphael, Bourgeron, Thomas, Chung, Wendy K., Constantino, John N., Eichler, Evan E., Jacquemont, Sebastien, Miller, David T., Mitchell, Kevin J., Zoghbi, Huda Y., Martin, Christa Lese, Ledbetter, David H.
Published 2020

A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus

by Rodriguez, Oscar L., Gibson, William S., Parks, Tom, Emery, Matthew, Powell, James, Strahl, Maya, Deikus, Gintaras, Auckland, Kathryn, Eichler, Evan E., Marasco, Wayne A., Sebra, Robert, Sharp, Andrew J., Smith, Melissa L., Bashir, Ali, Watson, Corey T.
Published 2020

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity

by Goldmann, Jakob M., Hampstead, Juliet E., Wong, Wendy S.W., Wilfert, Amy B., Turner, Tychele N., Jonker, Marianne A., Bernier, Raphael, Huynen, Martijn A., Eichler, Evan E., Veltman, Joris A., Maxwell, George L., Gilissen, Christian
Published 2021

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

by Giannuzzi, Giuliana, Chatron, Nicolas, Mannik, Katrin, Auwerx, Chiara, Pradervand, Sylvain, Willemin, Gilles, Hoekzema, Kendra, Nuttle, Xander, Chrast, Jacqueline, Sadler, Marie C., Porcu, Eleonora, Herault, Yann, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Eichler, Evan E., Kutalik, Zoltan, Reymond, Alexandre
Published 2023

Copy Number Variation of CCL3-like Genes Affects Rate of Progression to Simian-AIDS in Rhesus Macaques (Macaca mulatta)

by Degenhardt, Jeremiah D., de Candia, Paola, Chabot, Adrien, Schwartz, Stuart, Henderson, Les, Ling, Binhua, Hunter, Meredith, Jiang, Zhaoshi, Palermo, Robert E., Katze, Michael, Eichler, Evan E., Ventura, Mario, Rogers, Jeffrey, Marx, Preston, Gilad, Yoav, Bustamante, Carlos D.
Published 2009

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

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

by Giannuzzi, Giuliana, Chatron, Nicolas, Mannik, Katrin, Auwerx, Chiara, Pradervand, Sylvain, Willemin, Gilles, Hoekzema, Kendra, Nuttle, Xander, Chrast, Jacqueline, Sadler, Marie C., Porcu, Eleonora, Herault, Yann, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Eichler, Evan E., Kutalik, Zoltan, Reymond, Alexandre
Published 2022

A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years

by Bao, Bokan, Zahiri, Javad, Gazestani, Vahid H., Lopez, Linda, Xiao, Yaqiong, Kim, Raphael, Wen, Teresa H., Chiang, Austin W. T., Nalabolu, Srinivasa, Pierce, Karen, Robasky, Kimberly, Wang, Tianyun, Hoekzema, Kendra, Eichler, Evan E., Lewis, Nathan E., Courchesne, Eric
Published 2022

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

by 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.
Published 2013

Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans

by Hsieh, PingHsun, Dang, Vy, Vollger, Mitchell R., Mao, Yafei, Huang, Tzu-Hsueh, Dishuck, Philip C., Baker, Carl, Cantsilieris, Stuart, Lewis, Alexandra P., Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Underwood, Jason G., Eichler, Evan E.
Published 2021

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

by Giannuzzi, Giuliana, Logsdon, Glennis A, Chatron, Nicolas, Miller, Danny E, Reversat, Julie, Munson, Katherine M, Hoekzema, Kendra, Bonnet-Dupeyron, Marie-Noëlle, Rollat-Farnier, Pierre-Antoine, Baker, Carl A, Sanlaville, Damien, Eichler, Evan E, Schluth-Bolard, Caroline, Reymond, Alexandre
Published 2021

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

by Miller, Danny E., Lee, Lin, Galey, Miranda, Kandhaya-Pillai, Renuka, Tischkowitz, Marc, Amalnath, Deepak, Vithlani, Avadh, Yokote, Koutaro, Kato, Hisaya, Maezawa, Yoshiro, Takada-Watanabe, Aki, Takemoto, Minoru, Martin, George M., Eichler, Evan E., Hisama, Fuki M., Oshima, Junko
Published 2022

ELOA3: A primate-specific RNA polymerase II elongation factor encoded by a tandem repeat gene cluster

by Morgan, Marc A. J., Mohammad Parast, Saeid, Iwanaszko, Marta, Aoi, Yuki, Yoo, DongAhn, Dumar, Zachary J., Howard, Benjamin C., Helmin, Kathryn A., Liu, Qianli, Thakur, William R., Zeidner, Jacob M., Singer, Benjamin D., Eichler, Evan E., Shilatifard, Ali
Published 2023

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

by Mefford, Heather C., Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A., Schreiber, Stefan, Bassuk, Alexander G., Guipponi, Michel, Stephani, Ulrich, Helbig, Ingo, Eichler, Evan E.
Published 2010