日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Metabolic effects of the schizophrenia-associated 3q29 deletion

精神分裂症相关3q29缺失的代谢效应

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

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome

对脆性X综合征相关癫痫发作和合并症的描述性分析

Albizua, Igor; Charen, Krista; Shubeck, Lisa; Talboy, Amy; Berry-Kravis, Elizabeth; Kaufmann, Walter E; Stallworth, Jennifer L; Drazba, Katy T; Erickson, Craig A; Sweeney, John A; Tartaglia, Nicole; Warren, Steven F; Hagerman, Randi; Sherman, Stephanie L; Warren, Stephen T; Jin, Peng; Allen, Emily G

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

22q11.2缺失存在时,精神分裂症风险的遗传因素

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; Tran, Oanh; 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; Fabio, Fabio Di; 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, Stéphan; Sandini, Corrado; Schneider, Maude; Béna, Frédérique 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; García-Miñaúr, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suñer, Damià H; Raventos-Simic, Jasna; Epstein, Michael P; Williams, Nigel M; Bassett, Anne S

Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion

在 CRISPR 基因编辑的 3q29 缺失精神分裂症相关小鼠模型中观察到的行为改变和生长缺陷

Rutkowski, Timothy P; Purcell, Ryan H; Pollak, Rebecca M; Grewenow, Stephanie M; Gafford, Georgette M; Malone, Tamika; Khan, Uswa A; Schroeder, Jason P; Epstein, Michael P; Bassell, Gary J; Warren, Stephen T; Weinshenker, David; Caspary, Tamara; Mulle, Jennifer Gladys

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

在脆性X染色体前突变的高风险遗传背景下,鉴定原发性卵巢功能不全的易感基因

Trevino, Cristina E; Rounds, J Christopher; Charen, Krista; Shubeck, Lisa; Hipp, Heather S; Spencer, Jessica B; Johnston, H Richard; Cutler, Dave J; Zwick, Michael E; Epstein, Michael P; Murray, Anna; Macpherson, James N; Mila, Montserrat; Rodriguez-Revenga, Laia; Berry-Kravis, Elizabeth; Hall, Deborah A; Leehey, Maureen A; Liu, Ying; Welt, Corrine; Warren, Stephen T; Sherman, Stephanie L; Jin, Peng; Allen, Emily G

Case-control meta-analysis of blood DNA methylation and autism spectrum disorder

血液DNA甲基化与自闭症谱系障碍的病例对照荟萃分析

Andrews, Shan V; Sheppard, Brooke; Windham, Gayle C; Schieve, Laura A; Schendel, Diana E; Croen, Lisa A; Chopra, Pankaj; Alisch, Reid S; Newschaffer, Craig J; Warren, Stephen T; Feinberg, Andrew P; Fallin, M Daniele; Ladd-Acosta, Christine

PEMapper and PECaller provide a simplified approach to whole-genome sequencing

PEMapper 和 PECaller 提供了一种简化的全基因组测序方法

Johnston, H Richard; Chopra, Pankaj; Wingo, Thomas S; Patel, Viren; Epstein, Michael P; Mulle, Jennifer G; Warren, Stephen T; Zwick, Michael E; Cutler, David J

The Conserved, Disease-Associated RNA Binding Protein dNab2 Interacts with the Fragile X Protein Ortholog in Drosophila Neurons.

保守的疾病相关 RNA 结合蛋白 dNab2 与果蝇神经元中的脆性 X 蛋白同源物相互作用

Bienkowski Rick S, Banerjee Ayan, Rounds J Christopher, Rha Jennifer, Omotade Omotola F, Gross Christina, Morris Kevin J, Leung Sara W, Pak ChangHui, Jones Stephanie K, Santoro Michael R, Warren Stephen T, Zheng James Q, Bassell Gary J, Corbett Anita H, Moberg Kenneth H

Identification of consensus binding sites clarifies FMRP binding determinants

共识结合位点的鉴定阐明了FMRP结合决定簇

Anderson, Bart R; Chopra, Pankaj; Suhl, Joshua A; Warren, Stephen T; Bassell, Gary J

Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

FMR1错义突变与智力障碍和癫痫相关,揭示了突触前FMRP的独立作用

Myrick, Leila K; Deng, Pan-Yue; Hashimoto, Hideharu; Oh, Young Mi; Cho, Yongcheol; Poidevin, Mickael J; Suhl, Joshua A; Visootsak, Jeannie; Cavalli, Valeria; Jin, Peng; Cheng, Xiaodong; Warren, Stephen T; Klyachko, Vitaly A