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

A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.

Bryant-Li-Bhoj 神经发育/神经退行性疾病的新型 iPSC 模型表明组蛋白 H3.3 在染色质动力学、神经元分化和成熟中的作用。

Sangree Annabel K, Angireddy Rajesh, Bhattarai Janardhan P, Wang Yingqi, Bryant Laura M, Waxman Elisa A, Layo-Carris Dana E, Durham Emily E, Katsura Kaitlin A, Lubin Emily E, Wang Xiao Min, Clark Kelly J, Ma Minghong, Bhoj Elizabeth J

Histone variant H2BE controls activity-dependent gene expression and homeostatic scaling.

组蛋白变体H2BE控制活性依赖性基因表达和稳态调节。

Feierman Emily R, Paranjapye Alekh, Sangree Annabel K, Ahmad Rili, Maroni Marissa J, Qiu Qi, Choi Kyuhyun, Fuccillo Marc, Wu Hao, Korb Erica

Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

将深度表型定量与下一代表型分析相结合,用于研究192名患有生殖系组织细胞病的个体

Lubin, Emily E; Gonzalez, Elizabeth M; Sangree, Annabel K; Durham, Emily L; Klinkhammer, Hannah; Li, Jing-Mei; Smith, Sarina M; Layo-Carris, Dana E; Clark, Kelly J; Melendez-Perez, Ashley J; Wang, Xiao Min; Angireddy, Rajesh; Weiss, Erin E; Barakat, Tahsin Stefan; Mercier, Sandra; Cogné, Benjamin; Koene, Saskia; Hilhorst-Hofstee, Yvonne; Rydzanicz, Malgorzata; Ploski, Rafal; de Los Ángeles Gómez Cano, María; Palomares-Bralo, María; Arévalo, Tania Barragán; Tan, Tiong Yang; Gallacher, Lyndon; MacFarland, Suzanne P; Ahrens-Nicklas, Rebecca C; Nomakuchi, Tomoki T; Bhoj, Elizabeth J K

TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses

TBCK 缺乏症改变核糖体功能、RNA 剪接和 miRNA 网络:来自多组学分析的见解

Diaz-Rosado, Abdias; Clark, Kelly; Angireddy, Rajesh; Gilbert, Michael; Sangree, Annabel; Oppelt, Jan; Vrettos, Nicholas; Durham, Emily L; Gonzalez, Elizabeth; Lubin, Emily E; Melendez, Ashley; Layo-Carris, Dana; Katsura, Kaitlin A; Bhoj, Elizabeth

Efficient gene knockout and genetic interaction screening using the in4mer CRISPR/Cas12a multiplex knockout platform.

利用 in4mer CRISPR/Cas12a 多重敲除平台进行高效的基因敲除和基因相互作用筛选

Esmaeili Anvar Nazanin, Lin Chenchu, Ma Xingdi, Wilson Lori L, Steger Ryan, Sangree Annabel K, Colic Medina, Wang Sidney H, Doench John G, Hart Traver

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

布莱恩特-李-博伊综合征(Bryant-Li-Bhoj syndrome)神经发育和神经退行性疾病的表型谱扩展,新增38例患者

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L E Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

更正:布莱恩特-李-博伊综合征(Bryant-Li-Bhoj syndrome)是一种神经发育和神经退行性疾病,其表型谱已扩展,新增了38例患者。

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenaël L E; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders

NeuroTri2-VISDOT:一款开放获取工具,利用妊娠中期人类单细胞数据来完善孟德尔神经发育障碍模型。

Clark, Kelly J; Lubin, Emily E; Gonzalez, Elizabeth M; Sangree, Annabel K; Layo-Carris, Dana E; Durham, Emily L; Ahrens-Nicklas, Rebecca C; Nomakuchi, Tomoki T; Bhoj, Elizabeth J

Efficient gene knockout and genetic interactions: the IN4MER CRISPR/Cas12a multiplex knockout platform.

高效的基因敲除和基因相互作用:IN4MER CRISPR/Cas12a 多重敲除平台

Anvar Nazanin Esmaeili, Lin Chenchu, Ma Xingdi, Wilson Lori L, Steger Ryan, Sangree Annabel K, Colic Medina, Wang Sidney H, Doench John G, Hart Traver

Benchmarking of SpCas9 variants enables deeper base editor screens of BRCA1 and BCL2

SpCas9 变体的基准测试可实现对 BRCA1 和 BCL2 进行更深入的碱基编辑器筛选

Annabel K Sangree #, Audrey L Griffith #, Zsofia M Szegletes, Priyanka Roy, Peter C DeWeirdt, Mudra Hegde, Abby V McGee, Ruth E Hanna, John G Doench