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

Comparison of autism domains across thirty rare variant genotypes

对三十种罕见变异基因型的自闭症谱系进行比较

Ali, Nabila M H; Chawner, Samuel J R A; Kushan-Wells, Leila; Bearden, Carrie E; Mulle, Jennifer Gladys; Pollak, Rebecca M; Gur, Raquel E; Chung, Wendy K; Owen, Michael J; van den Bree, Marianne B M

Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry

3q29缺失综合征的行为表型和合并症:来自3q29登记处的研究结果

Pollak, Rebecca M; Mortillo, Michael; Murphy, Melissa M; Mulle, Jennifer G

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

Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice.

醋酸盐补充剂可以挽救 Shank3 缺陷小鼠的社交缺陷,并改变其前额叶皮层的转录调控

Osman Aya, Mervosh Nicholas L, Strat Ana N, Euston Tanner J, Zipursky Gillian, Pollak Rebecca M, Meckel Katherine R, Tyler Scott R, Chan Kenny L, Buxbaum Grice Ariela, Drapeau Elodie, Litichevskiy Lev, Gill Jasleen, Zeldin Sharon M, Thaiss Christoph A, Buxbaum Joseph D, Breen Michael S, Kiraly Drew D

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

22q13.3大片段缺失会扰乱Phelan-McDermid综合征患者的外周转录组和代谢组特征。

Breen, Michael S; Fan, Xuanjia; Levy, Tess; Pollak, Rebecca M; Collins, Brett; Osman, Aya; Tocheva, Anna S; Sahin, Mustafa; Berry-Kravis, Elizabeth; Soorya, Latha; Thurm, Audrey; Powell, Craig M; Bernstein, Jonathan A; Kolevzon, Alexander; Buxbaum, Joseph D

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

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