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

de réir 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
Foilsithe / Cruthaithe 2023

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

de réir 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
Foilsithe / Cruthaithe 2006

Reconstructing complex regions of genomes using long-read sequencing technology

de réir 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.
Foilsithe / Cruthaithe 2014

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

de réir 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
Foilsithe / Cruthaithe 2014

Single haplotype assembly of the human genome from a hydatidiform mole

de réir 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.
Foilsithe / Cruthaithe 2014

Evolution of Oryza chloroplast genomes promoted adaptation to diverse ecological habitats

de réir 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.
Foilsithe / Cruthaithe 2019

Insufficient Evidence for “Autism-Specific” Genes

de réir 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.
Foilsithe / Cruthaithe 2020

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

de réir 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.
Foilsithe / Cruthaithe 2020

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

de réir 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
Foilsithe / Cruthaithe 2021

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

de réir 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
Foilsithe / Cruthaithe 2023

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

de réir 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.
Foilsithe / Cruthaithe 2009

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

de réir 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.
Foilsithe / Cruthaithe 2011

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

de réir 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
Foilsithe / Cruthaithe 2022

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

de réir 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
Foilsithe / Cruthaithe 2022

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

de réir 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.
Foilsithe / Cruthaithe 2013

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

de réir 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.
Foilsithe / Cruthaithe 2021

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

de réir 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
Foilsithe / Cruthaithe 2021

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

de réir 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
Foilsithe / Cruthaithe 2022

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

de réir 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
Foilsithe / Cruthaithe 2023

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

de réir 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.
Foilsithe / Cruthaithe 2010