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

Female iPSC X-chromosome inactivation (XCI) erosion and its transcriptomic effects during CRISPR gene editing and neural differentiation

女性诱导多能干细胞X染色体失活(XCI)侵蚀及其在CRISPR基因编辑和神经分化过程中的转录组效应

Thapa, Christina; Oh, Emily K; Sirkin, David; Lahey, Jennifer; de León Guerrerro, Sol Díaz; McCarroll, Ada; Gowda, Prarthana; Zhang, Hanwen; Barishman, Alexandra; Peyton, Lilia; Zhang, Siwei; Pollak, Rebecca M; Hart, Ronald P; Pato, Carlos N; Kreimer, Anat; Mulle, Jennifer G; Sanders, Alan R; Pang, Zhiping; Duan, Jubao

Genetic insights on the mechanisms of human cortical folding

人类皮层折叠机制的遗传学见解

Snyder, William; Shafee, Rebecca; Liu, Siyuan; Levitis, Elizabeth; Duan, Kuaikuai; Kumar, Kuldeep; Schleifer, Charles H; Boen, Rune; Ching, Christopher Rk; Han, Joan C; Lee, Nancy; Mulle, Jennifer G; Shultz, Sarah; Jacquemont, Sébastien; Bearden, Carrie E; Vértes, Petra E; Bullmore, Edward T; Raznahan, Armin

Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome

神经发育缺失综合征中后颅窝和小脑的结构异常及其认知联系

Sefik, Esra; Duan, Kuaikuai; Li, Yiheng; Sholar, Brittney; Evans, Lindsey; Pincus, Jordan; Ammar, Zeena; Murphy, Melissa M; Klaiman, Cheryl; Saulnier, Celine A; Pulver, Stormi L; Goldman-Yassen, Adam E; Guo, Ying; Walker, Elaine F; Li, Longchuan; Mulle, Jennifer G; Shultz, Sarah

Beyond IQ: executive function deficits and their relation to functional, clinical, and neuroimaging outcomes in 3q29 deletion syndrome

超越智商:3q29缺失综合征的执行功能缺陷及其与功能、临床和神经影像学结果的关系

Pollak, Rebecca M; Sefik, Esra; Aberizk, Katrina; Duan, Kuaikuai; Espana, Roberto; Guest, Ryan M; Goldman-Yassen, Adam E; Goines, Katrina; Novacek, Derek M; Saulnier, Celine A; Klaiman, Cheryl; Pulver, Stormi; Cubells, Joseph F; Burrell, T Lindsey; Shultz, Sarah; Walker, Elaine F; Murphy, Melissa M; Mulle, Jennifer G

Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs

在人类诱导多能干细胞中高效、大规模地获得与神经发育和精神疾病相关的风险基因的功能缺失等位基因

Zhang, Hanwen; McCarroll, Ada; Peyton, Lilia; Díaz de León-Guerrerro, Sol; Zhang, Siwei; Gowda, Prarthana; Sirkin, David; ElAchwah, Mahmoud; Duhe, Alexandra; Wood, Whitney G; Jamison, Brandon; Tracy, Gregory; Pollak, Rebecca; Hart, Ronald P; Pato, Carlos N; Mulle, Jennifer G; Sanders, Alan R; Pang, Zhiping P; Duan, Jubao

Adaptive behavior deficits in individuals with 3q29 deletion syndrome

3q29缺失综合征患者的适应性行为缺陷

Pollak, Rebecca M; Burrell, T Lindsey; Cubells, Joseph F; Klaiman, Cheryl; Murphy, Melissa M; Saulnier, Celine A; Walker, Elaine F; White, Stormi Pulver; Mulle, Jennifer G

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

Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome

3q29缺失综合征患者的自闭症谱系障碍症状表现

Pollak, Rebecca M; Pincus, Jordan E; Burrell, T Lindsey; Cubells, Joseph F; Klaiman, Cheryl; Murphy, Melissa M; Saulnier, Celine A; Walker, Elaine F; White, Stormi Pulver; Mulle, Jennifer G

Caregiver Perspectives on a Child's Diagnosis of 3q29 Deletion: "We Can't Just Wish This Thing Away"

照顾者对孩子被诊断出患有3q29缺失症的看法:“我们不能指望这件事就消失”

Glassford, Megan R; Purcell, Ryan H; Pass, Sarah; Murphy, Melissa M; Bassell, Gary J; Mulle, Jennifer 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