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

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Aberrant recursive splicing in a human disease locus

人类疾病位点中的异常递归剪接

Boone, Philip M; Harripaul, Ricardo; Yadav, Rachita; Grzybowski, Michael; Hanafy, Mahmoud K; Lee, Amanda C; Choi, Esther Y; Collins, Ryan L; Polesskaya, Oksana; Makhortova, Nina; Larson, Matthew O; Kayir, Hakan; Wang, Yizhi; Avila, Rodolfo A; Frie, Jude A; Eed, Amr; Albeely, Abdalla M; Venmuri, Sunitha; Ayoub, Samantha M; Lemanski, John M; Ben-Isvy, Daniel; Zhao, Xuefang; Sanchis-Juan, Alba; Handley, Maris; Erdin, Serkan; de Esch, Celine; Mohajeri, Kiana; Chen, Clementine; Tovar, Paulina Gonzalez; Salani, Monica; Oliveira, Mariana Moyses; Tai, Derek J C; Currall, Benjamin; McGraw, Christopher; Slaughenhaupt, Susan; Doan, Ryan; Gao, Dadi; Gusella, James F; Sanchez-Roige, Sandra; Young, Jared; Khokar, Jibran; Geurts, Aron M; Palmer, Abraham A; Talkowski, Michael E

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

利用 CRISPR 技术删除 POGZ 基因会改变参与突触信号传导的基因启动子处的转录因子结合。

Moyses-Oliveira, Mariana; Liu, Yating; Erdin, Serkan; Gao, Dadi; Bhavsar, Riya; Mohajeri, Kiana; O'Keefe, Kathryn; Boone, Philip M; Xavier, Gabriela; Liao, Calwing; Li, Aiqun; Yadav, Rachita; Salani, Monica; Lucente, Diane; Currall, Benjamin; de Esch, Celine E F; Tai, Derek J C; Ruderfer, Douglas; Brennand, Kristen J; Gusella, James F; Talkowski, Michael E

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

小鼠脑和人类神经元模型中16p11.2相互基因组紊乱的组织和细胞类型特异性分子和功能特征

Tai, Derek J C; Razaz, Parisa; Erdin, Serkan; Gao, Dadi; Wang, Jennifer; Nuttle, Xander; de Esch, Celine E; Collins, Ryan L; Currall, Benjamin B; O'Keefe, Kathryn; Burt, Nicholas D; Yadav, Rachita; Wang, Lily; Mohajeri, Kiana; Aneichyk, Tatsiana; Ragavendran, Ashok; Stortchevoi, Alexei; Morini, Elisabetta; Ma, Weiyuan; Lucente, Diane; Hastie, Alex; Kelleher, Raymond J; Perlis, Roy H; Talkowski, Michael E; Gusella, James F

Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell-Derived Neurons.

16p11.2重复精神分裂症诱导的多能干细胞衍生神经元中兴奋性功能障碍导致网络和钙处理缺陷

Parnell Euan, Culotta Lorenza, Forrest Marc P, Jalloul Hiba A, Eckman Blair L, Loizzo Daniel D, Horan Katherine K E, Dos Santos Marc, Piguel Nicolas H, Tai Derek J C, Zhang Hanwen, Gertler Tracy S, Simkin Dina, Sanders Alan R, Talkowski Michael E, Gejman Pablo V, Kiskinis Evangelos, Duan Jubao, Penzes Peter

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

16号染色体短臂上常见和罕见遗传因素对自闭症的统计学和功能性影响

Weiner, Daniel J; Ling, Emi; Erdin, Serkan; Tai, Derek J C; Yadav, Rachita; Grove, Jakob; Fu, Jack M; Nadig, Ajay; Carey, Caitlin E; Baya, Nikolas; Bybjerg-Grauholm, Jonas; Berretta, Sabina; Macosko, Evan Z; Sebat, Jonathan; O'Connor, Luke J; Hougaard, David M; Børglum, Anders D; Talkowski, Michael E; McCarroll, Steven A; Robinson, Elise B

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome

FBXL7基因的双等位基因突变提示了一种新型的亨内坎姆综合征。

Boone, Philip M; Paterson, Scott; Mohajeri, Kiana; Zhu, Wenmiao; Genetti, Casie A; Tai, Derek J C; Nori, Neeharika; Agrawal, Pankaj B; Bacino, Carlos A; Bi, Weimin; Talkowski, Michael E; Hogan, Benjamin M; Rodan, Lance H

Novel role and mechanism of protein inhibitor of activated STAT1 in spatial learning

激活的STAT1蛋白抑制剂在空间学习中的新作用和机制

Tai, Derek J C; Hsu, Wei L; Liu, Yen C; Ma, Yun L; Lee, Eminy H Y