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

di 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
Pubblicazione 2023

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

di 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
Pubblicazione 2006

Reconstructing complex regions of genomes using long-read sequencing technology

di 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.
Pubblicazione 2014

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

di 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
Pubblicazione 2014

Single haplotype assembly of the human genome from a hydatidiform mole

di 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.
Pubblicazione 2014

Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats

di 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.
Pubblicazione 2019

Insufficient Evidence for “Autism-Specific” Genes

di 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.
Pubblicazione 2020

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

di 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.
Pubblicazione 2020

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

di 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
Pubblicazione 2021

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

di 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
Pubblicazione 2023

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

di 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.
Pubblicazione 2009

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

di 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.
Pubblicazione 2011

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

di 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
Pubblicazione 2022

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

di 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
Pubblicazione 2022

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

di 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.
Pubblicazione 2013

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

di 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.
Pubblicazione 2021

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

di 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
Pubblicazione 2021

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

di 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
Pubblicazione 2022

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

di 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
Pubblicazione 2023

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

di 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.
Pubblicazione 2010