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

מאת 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
יצא לאור 2023

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

מאת 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
יצא לאור 2006

Reconstructing complex regions of genomes using long-read sequencing technology

מאת 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.
יצא לאור 2014

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

מאת 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
יצא לאור 2014

Single haplotype assembly of the human genome from a hydatidiform mole

מאת 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.
יצא לאור 2014

Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats

מאת 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.
יצא לאור 2019

Insufficient Evidence for “Autism-Specific” Genes

מאת 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.
יצא לאור 2020

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

מאת 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.
יצא לאור 2020

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

מאת 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
יצא לאור 2021

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

מאת 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
יצא לאור 2023

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

מאת 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.
יצא לאור 2009

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

מאת 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.
יצא לאור 2011

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

מאת 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
יצא לאור 2022

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

מאת 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
יצא לאור 2022

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

מאת 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.
יצא לאור 2013

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

מאת 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.
יצא לאור 2021

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

מאת 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
יצא לאור 2021

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

מאת 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
יצא לאור 2022

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

מאת 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
יצא לאור 2023

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

מאת 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.
יצא לאור 2010