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

av 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
Publicerad 2023

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

av 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
Publicerad 2006

Reconstructing complex regions of genomes using long-read sequencing technology

av 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.
Publicerad 2014

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

av 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
Publicerad 2014

Single haplotype assembly of the human genome from a hydatidiform mole

av 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.
Publicerad 2014

Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats

av 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.
Publicerad 2019

Insufficient Evidence for “Autism-Specific” Genes

av 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.
Publicerad 2020

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

av 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.
Publicerad 2020

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

av 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
Publicerad 2021

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

av 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
Publicerad 2023

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

av 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.
Publicerad 2009

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

av 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.
Publicerad 2011

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

av 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
Publicerad 2022

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

av 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
Publicerad 2022

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

av 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.
Publicerad 2013

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

av 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.
Publicerad 2021

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

av 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
Publicerad 2021

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

av 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
Publicerad 2022

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

av 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
Publicerad 2023

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

av 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.
Publicerad 2010