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Loss of function of OTUD7A in the schizophrenia-associated 15q13.3 deletion impairs synapse development and function in human neurons 精神分裂症相关的15 q13.3缺失中OTUD7A的功能丧失会损害人类神经元的突触发育和功能 Kozlova, Alena; Zhang, Siwei; Kotlar, Alex, V; Jamison, Brendan; Zhang, Hanwen; Shi, Serena; Forrest, Marc P.; McDaid, John; Cutler, David J.; Epstein, Michael P.; Zwick, Michael E.; Pang, Zhiping P.; Sanders, Alan R.; Warren, Stephen T.; Gejman, Pablo, V; Mulle, Jennifer G.; Duan, Jubao 分享 收藏
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome 鉴定PSMB5作为脆性X相关震颤/共济失调综合征的遗传调节剂 Kong, Ha Eun; Lim, Junghwa; Linsalata, Alexander; Kang, Yunhee; Malik, Indranil; Allen, Emily G.; Cao, Yiqu; Shubeck, Lisa; Johnston, Rich; Huang, Yanting; Gu, Yanghong; Guo, Xiangxue; Zwick, Michael E.; Qin, Zhaohui; Wingo, Thomas S.; Juncos, Jorge; Nelson, David L.; Epstein, Michael P.; Cutler, David J.; Todd, Peter K.; Sherman, Stephanie L.; Warren, Stephen T.; Jin, Peng 分享 收藏
Metabolic effects of the schizophrenia-associated 3q29 deletion Pollak, Rebecca M.; Purcell, Ryan H.; Rutkowski, Timothy P.; Malone, Tamika; Pachura, Kimberly J.; Bassell, Gary J.; Epstein, Michael P.; Dawson, Paul A.; Smith, Matthew R.; Jones, Dean P.; Zwick, Michael E.; Warren, Stephen T.; Caspary, Tamara; Weinshenker, David; Mulle, Jennifer G. 分享 收藏
MODELING THE LOSS-OF-FUNCTION MUTATION OF OTUD7A WITHIN THE SCHIZOPHRENIA-ASSOCIATED 15Q13.3 MICRODELETION IN HUMAN NEURONS Kozlova, Alena; Zhang, Siwei; Kotlar, Alex; McDaid, John; Forrest, Marc P.; Zhang, Hanwen; Jamison, Brendan; Cutler, David; Zwick, Michael; Pang, Zhiping; Sanders, Alan R.; Warren, Stephen T.; Gejman, Pablo V.; Mulle, Jennifer G.; Duan, Jubao 分享 收藏
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome (vol 10, 18051, 2020) Trevino, Cristina E.; Holleman, Aaron M.; Corbitt, Holly; Maslen, Cheryl L.; Rosser, Tracie C.; Cutler, David J.; Johnston, H. Richard; Rambo-Martin, Benjamin L.; Oberoi, Jai; Dooley, Kenneth J.; Capone, George T.; Reeves, Roger H.; Cordell, Heather J.; Keavney, Bernard D.; Agopian, A. J.; Goldmuntz, Elizabeth; Gruber, Peter J.; O'Brien, James E.; Bittel, Douglas C.; Wadhwa, Lalita; Cua, Clifford L.; Moskowitz, Ivan P.; Mulle, Jennifer G.; Epstein, Michael P.; Sherman, Stephanie L.; Zwick, Michael E. 分享 收藏
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease Sutcliffe, Diane J.; Dinasarapu, Ashok R.; Visser, Jasper E.; den Hoed, Joery; Seifar, Fatemeh; Joshi, Piyush; Ceballos-Picot, Irene; Sardar, Tejas; Hess, Ellen J.; Sun, Yan V.; Wen, Zhexing; Zwick, Michael E.; Jinnah, H. A. 分享 收藏
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease Somineni, Hari K.; Nagpal, Sini; Venkateswaran, Suresh; Cutler, David J.; Okou, David T.; Haritunians, Talin; Simpson, Claire L.; Begum, Ferdouse; Datta, Lisa W.; Quiros, Antonio J.; Seminerio, Jenifer; Mengesha, Emebet; Alexander, Jonathan S.; Baldassano, Robert N.; Dudley-Brown, Sharon; Cross, Raymond K.; Dassopoulos, Themistocles; Denson, Lee A.; Dhere, Tanvi A.; Iskandar, Heba; Dryden, Gerald W.; Hou, Jason K.; Hussain, Sunny Z.; Hyams, Jeffrey S.; Isaacs, Kim L.; Kader, Howard; Kappelman, Michael D.; Katz, Jeffry; Kellermayer, Richard; Kuemmerle, John F.; Lazarev, Mark; Li, Ellen; Mannon, Peter; Moulton, Dedrick E.; Newberry, Rodney D.; Patel, Ashish S.; Pekow, Joel; Saeed, Shehzad A.; Valentine, John F.; Wang, Ming-Hsi; McCauley, Jacob L.; Abreu, Maria T.; Jester, Traci; Molle-Rios, Zarela; Palle, Sirish; Scherl, Ellen J.; Kwon, John; Rioux, John D.; Duerr, Richard H.; Silverberg, Mark S.; Zwick, Michael E.; Stevens, Christine; Daly, Mark J.; Cho, Judy H.; Gibson, Greg; McGovern, Dermot P. B.; Brant, Steven R.; Kugathasan, Subra 分享 收藏
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome Trevino, Cristina E.; Holleman, Aaron M.; Corbitt, Holly; Maslen, Cheryl L.; Rosser, Tracie C.; Cutler, David J.; Johnston, H. Richard; Rambo-Martin, Benjamin L.; Oberoi, Jai; Dooley, Kenneth J.; Capone, George T.; Reeves, Roger H.; Cordell, Heather J.; Keavney, Bernard D.; Agopian, A. J.; Goldmuntz, Elizabeth; Gruber, Peter J.; O'Brien, James E., Jr.; Bittel, Douglas C.; Wadhwa, Lalita; Cua, Clifford L.; Mulle, Jennifer G.; Epstein, Michael P.; Sherman, Stephanie L.; Zwick, Michael E. 分享 收藏
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Metabolic Pathway Analysis and Effectiveness of Tamoxifen in Danish Breast Cancer Patients Ahern, Thomas P.; Collin, Lindsay J.; Baurley, James W.; Kjaersgaard, Anders; Nash, Rebecca; Maliniak, Maret L.; Damkier, Per; Zwick, Michael E.; Isett, R. Benjamin; Christiansen, Peer M.; Ejlertsen, Bent; Lauridsen, Kristina L.; Christensen, Kristina B.; Silliman, Rebecca A.; Sorensen, Henrik Toft; Tramm, Trine; Hamilton-Dutoit, Stephen; Lash, Timothy L.; Cronin-Fenton, Deirdre 分享 收藏
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S.; Heung, Tracy; Holleman, Aaron M.; Johnston, H. Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M.; Gur, Raquel E.; Morrow, Bernice E.; Swillen, Ann; Vorstman, Jacob A. S.; Bearden, Carrie E.; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; Warren, Stephen T.; Owen, Michael J.; Chopra, Pankaj; Cutler, David J.; Duncan, Richard; Kotlar, Alex, V; Mulle, Jennifer G.; Voss, Anna J.; Zwick, Michael E.; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih-Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold, I; Oanh Tran; Holmans, Peter; Pardinas, Antonio; Walters, James T. R.; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J.; Costain, Gregory A.; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A. M. J.; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T. Blaine; McGinn, Daniel E.; Moss, Edward M.; Sharkus, Robert J.; Unolt, Marta; Zackai, Elaine H.; Calkins, Monica E.; Gallagher, Robert S.; Gur, Ruben C.; Tang, Sunny X.; Fritsch, Rosemarie; Ornstein, Claudia; Repetto, Gabriela M.; Breetvelt, Elemi; Duijff, Sasja N.; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C.; Prasad, Sarah E.; Daly, Eileen M.; Gudbrandsen, Maria; Murphy, Clodagh M.; Murphy, Declan G.; Buzzanca, Antonio; Di Fabio, Fabio; Digilio, Maria C.; Pontillo, Maria; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F.; Ousley, Opal Y.; Carmel, Miri; Gothelf, Doron; Mekori-Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Weizman, Abraham; Kushan, Leila; Jalbrzikowski, Maria; Armando, Marco; Eliez, Stephan; Sandini, Corrado; Schneider, Maude; Bena, Frederique Sloan; Antshel, Kevin M.; Fremont, Wanda; Kates, Wendy R.; Belzeaux, Raoul; Busa, Tiffany; Philip, Nicole; Campbell, Linda E.; McCabe, Kathryn L.; Hooper, Stephen R.; Schoch, Kelly; Shashi, Vandana; Simon, Tony J.; Tassone, Flora; Arango, Celso; Fraguas, David; Garcia-Minaur, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suner, Damia H.; Raventos-Simic, Jasna; Epstein, Michael P.; Williams, Nigel M.; Bassett, Anne S. 分享 收藏
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 大规模外显子组测序研究暗示自闭症神经生物学的发育和功能变化 Satterstrom, F. Kyle; Kosmicki, Jack A.; Wang, Jiebiao; Breen, Michael S.; De Rubeis, Silvia; An, Joon-Yong; Peng, Minshi; Collins, Ryan; Grove, Jakob; Klei, Lambertus; Stevens, Christine; Reichert, Jennifer; Mulhern, Maureen S.; Artomov, Mykyta; Gerges, Sherif; Sheppard, Brooke; Xu, Xinyi; Bhaduri, Aparna; Norman, Utku; Brand, Harrison; Schwartz, Grace; Nguyen, Rachel; Guerrero, Elizabeth E.; Dias, Caroline; Betancur, Catalina; Cook, Edwin H.; Gallagher, Louise; Gill, Michael; Sutcliffe, James S.; Thurm, Audrey; Zwick, Michael E.; Borglum, Anders D.; State, Matthew W.; Cicek, A. Ercument; Talkowski, Michael E.; Cutler, David J.; Devlin, Bernie; Sanders, Stephan J.; Roeder, Kathryn; Daly, Mark J.; Buxbaum, Joseph D.; Aleksic, Branko; Anney, Richard; Barbosa, Mafalda; Bishop, Somer; Brusco, Alfredo; Bybjerg-Grauholm, Jonas; Carracedo, Angel; Chan, Marcus C. Y.; Chiocchetti, Andreas G.; Chung, Brian H. Y.; Coon, Hilary; Cuccaro, Michael L.; Curro, Aurora; Dalla Bernardina, Bernardo; Doan, Ryan; Domenici, Enrico; Dong, Shan; Fallerini, Chiara; Fernandez-Prieto, Montserrat; Ferrero, Giovanni Battista; Freitag, Christine M.; Fromer, Menachem; Gargus, J. Jay; Geschwind, Daniel; Giorgio, Elisa; Gonzalez-Penas, Javier; Guter, Stephen; Halpern, Danielle; Hansen-Kiss, Emily; He, Xin; Herman, Gail E.; Hertz-Picciotto, Irva; Hougaard, David M.; Hultman, Christina M.; Ionita-Laza, Iuliana; Jacob, Suma; Jamison, Jesslyn; Jugessur, Astanand; Kaartinen, Miia; Knudsen, Gun Peggy; Kolevzon, Alexander; Kushima, Itaru; Lee, So Lun; Lehtimaki, Terho; Lim, Elaine T.; Lintas, Carla; Lipkin, W. Ian; Lopergolo, Diego; Lopes, Fatima; Ludena, Yunin; Maciel, Patricia; Magnus, Per; Mahjani, Behrang; Maltman, Nell; Manoach, Dara S.; Meiri, Gal; Menashe, Idan; Miller, Judith; Minshew, Nancy; Montenegro, Eduarda M. S.; Moreira, Danielle; Morrow, Eric M.; Mors, Ole; Mortensen, Preben Bo; Mosconi, Matthew; Muglia, Pierandrea; Neale, Benjamin M.; Nordentoft, Merete; Ozaki, Norio; Palotie, Aarno; Parellada, Mara; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret; Persico, Antonio M.; Pessah, Isaac; Puura, Kaija; Reichenberg, Abraham; Renieri, Alessandra; Riberi, Evelise; Robinson, Elise B.; Samocha, Kaitlin E.; Sandin, Sven; Santangelo, Susan L.; Schellenberg, Gerry; Scherer, Stephen W.; Schlitt, Sabine; Schmidt, Rebecca; Schmitt, Lauren; Silva, Isabela M. W.; Singh, Tarjinder; Siper, Paige M.; Smith, Moyra; Soares, Gabriela; Stoltenberg, Camilla; Suren, Pal; Susser, Ezra; Sweeney, John; Szatmari, Peter; Tang, Lara; Tassone, Flora; Teufel, Karoline; Trabetti, Elisabetta; Trelles, Maria del Pilar; Walsh, Christopher A.; Weiss, Lauren A.; Werge, Thomas; Werling, Donna M.; Wigdor, Emilie M.; Wilkinson, Emma; Willsey, A. Jeremy; Yu, Timothy W.; Yu, Mullin Hc; Yuen, Ryan; Zachi, Elaine; Agerbo, Esben; Als, Thomas Damm; Appadurai, Vivek; Baekvad-Hansen, Marie; Belliveau, Rich; Buil, Alfonso; Carey, Caitlin E.; Cerrato, Felecia; Chambert, Kimberly; Churchhouse, Claire; Dalsgaard, Soren; Demontis, Ditte; Dumont, Ashley; Goldstein, Jacqueline; Hansen, Christine S.; Hauberg, Mads Engel; Hollegaard, Mads, V; Howrigan, Daniel P.; Huang, Hailiang; Maller, Julian; Martin, Alicia R.; Martin, Joanna; Mattheisen, Manuel; Moran, Jennifer; Pallesen, Jonatan; Palmer, Duncan S.; Pedersen, Carsten Bocker; Pedersen, Marianne Giortz; Poterba, Timothy; Poulsen, Jesper Buchhave; Ripke, Stephan; Schork, Andrew J.; Thompson, Wesley K.; Turley, Patrick; Walters, Raymond K. 分享 收藏
METABOLIC DYSFUNCTION AS A CONTRIBUTOR TO PHENOTYPES OF THE SCHIZOPHRENIA-ASSOCIATED 3Q29 DELETION Pollak, Rebecca; Purcell, Ryan; Rutkowski, Timothy; Malone, Tamika; Pachura, Kimberly; Bassell, Gary J.; Epstein, Michael P.; Caspary, Tamara; Dawson, Paul A.; Jones, Dean P.; Warren, Stephen T.; Weinshenker, David; Zwick, Michael E.; Mulle, Jennifer G. 分享 收藏
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Genome-wide association study of acute lymphoblastic leukemia in children with Down syndrome Brown, Austin L.; de Smith, Adam J.; Scheurer, Michael E.; Kallsen, Noah A.; Peyton, Shanna A.; Davies, Gareth E.; Ehli, Erik A.; Zwick, Michael E.; Winick, Naomi; Maloney, Kelly; Angiolillo, Anne L.; Schore, Reuven; Burke, MIchael M.; Salzer, Wanda L.; Heerema, Nyla A.; Carroll, Andrew J.; Borowitz, Michael J.; Wood, Brent L.; Carroll, William L.; Raetz, Elizabeth A.; Feingold, Elanor; Sherman, Stephanie L.; Yang, Wenjian; Devidas, Meenakshi; Walsh, Kyle; DeWan, Andrew T.; Pombo-de-Oliveira, Maria S.; Taub, Jeffrey W.; Sinnett, Daniel; Healy, Jasmine; Birch, Jillian M.; Barcellos, Lisa F.; Hansen, Helen; Smirnov, Ivan; Mullighan, Charles G.; Hunger, Stephen P.; Pui, Ching-Hon; Loh, Mignon; Wiemels, Joe L.; Ma, Xiaomei; Metayer, Catherine; Mueller, Beth A.; Relling, Mary V.; Yang, Jun J.; Lupo, Philip J.; Rabin, Karen R. 分享 收藏
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease 小儿克罗恩病患者中性粒细胞活性氧产生的临床和基因组相关性 Denson, Lee A.; Jurickova, Ingrid; Karns, Rebekah; Shaw, Kelly A.; Cutler, David J.; Okou, David T.; Dodd, Anne; Quinn, Kathryn; Mondal, Kajari; Aronow, Bruce J.; Haberman, Yael; Linn, Aaron; Price, Adam; Bezold, Ramona; Lake, Kathleen; Jackson, Kimberly; Walters, Thomas D.; Griffiths, Anne; Baldassano, Robert N.; Noe, Joshua D.; Hyams, Jeffrey S.; Crandall, Wallace V.; Kirschner, Barbara S.; Heyman, Melvin B.; Snapper, Scott; Guthery, Stephen L.; Dubinsky, Marla C.; Leleiko, Neal S.; Otley, Anthony R.; Xavier, Ramnik J.; Stevens, Christine; Daly, Mark J.; Zwick, Michael E.; Kugathasan, Subra 分享 收藏
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