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

Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing

通过基于 CRISPR 的表观基因组编辑激活印迹普拉德-威利综合征基因座

Dahlia Rohm, Joshua B Black, Sean R McCutcheon, Alejandro Barrera, Shanté S Berry, Daniel J Morone, Xander Nuttle, Celine E de Esch, Derek J C Tai, Michael E Talkowski, Nahid Iglesias, Charles A Gersbach

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

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries

使用 piggyBac 转座子传递 CRISPR 文库对突变模型进行并行工程设计

Xander Nuttle, Nicholas D Burt, Benjamin Currall, Mariana Moysés-Oliveira, Kiana Mohajeri, Riya Bhavsar, Diane Lucente, Rachita Yadav, Derek J C Tai, James F Gusella, Michael E Talkowski

Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing

通过基于 CRISPR 的表观基因组编辑激活印迹普拉德-威利综合征基因座

Dahlia Rohm, Joshua B Black, Sean R McCutcheon, Alejandro Barrera, Daniel J Morone, Xander Nuttle, Celine E de Esch, Derek J C Tai, Michael E Talkowski, Nahid Iglesias, Charles A Gersbach

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

自闭症相关基因的趋同共表达表明,一些新的风险基因可能无法在大规模遗传研究中检测到

Calwing Liao, Mariana Moyses-Oliveira, Celine E F De Esch, Riya Bhavsar, Xander Nuttle, Aiqun Li, Alex Yu, Nicholas D Burt, Serkan Erdin, Jack M Fu, Minghui Wang, Theodore Morley, Lide Han; CommonMind Consortium; Patrick A Dion, Guy A Rouleau, Bin Zhang, Kristen J Brennand, Michael E Talkowski, Doug

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

作者更正:16p11.2拷贝数变异可能与淋巴细胞和中性粒细胞计数改变有关

Giannuzzi, Giuliana; Chatron, Nicolas; Mannik, Katrin; Auwerx, Chiara; Pradervand, Sylvain; Willemin, Gilles; Hoekzema, Kendra; Nuttle, Xander; Chrast, Jacqueline; Sadler, Marie C; Porcu, Eleonora; Herault, Yann; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Eichler, Evan E; Kutalik, Zoltan; Reymond, Alexandre

A cross-disorder dosage sensitivity map of the human genome

人类基因组的跨疾病剂量敏感性图谱

Collins, Ryan L; Glessner, Joseph T; Porcu, Eleonora; Lepamets, Maarja; Brandon, Rhonda; Lauricella, Christopher; Han, Lide; Morley, Theodore; Niestroj, Lisa-Marie; Ulirsch, Jacob; Everett, Selin; Howrigan, Daniel P; Boone, Philip M; Fu, Jack; Karczewski, Konrad J; Kellaris, Georgios; Lowther, Chelsea; Lucente, Diane; Mohajeri, Kiana; Nõukas, Margit; Nuttle, Xander; Samocha, Kaitlin E; Trinh, Mi; Ullah, Farid; Võsa, Urmo; Hurles, Matthew E; Aradhya, Swaroop; Davis, Erica E; Finucane, Hilary; Gusella, James F; Janze, Aura; Katsanis, Nicholas; Matyakhina, Ludmila; Neale, Benjamin M; Sanders, David; Warren, Stephanie; Hodge, Jennelle C; Lal, Dennis; Ruderfer, Douglas M; Meck, Jeanne; Mägi, Reedik; Esko, Tõnu; Reymond, Alexandre; Kutalik, Zoltán; Hakonarson, Hakon; Sunyaev, Shamil; Brand, Harrison; 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

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

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

16p11.2拷贝数变异可能与淋巴细胞和中性粒细胞计数改变有关

Giannuzzi, Giuliana; Chatron, Nicolas; Mannik, Katrin; Auwerx, Chiara; Pradervand, Sylvain; Willemin, Gilles; Hoekzema, Kendra; Nuttle, Xander; Chrast, Jacqueline; Sadler, Marie C; Porcu, Eleonora; Herault, Yann; Isidor, Bertrand; Gilbert-Dussardier, Brigitte; Eichler, Evan E; Kutalik, Zoltan; Reymond, Alexandre