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

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

The ivory lncRNA regulates seasonal color patterns in buckeye butterflies

象牙色长链非编码RNA调控七叶树蝴蝶的季节性颜色模式。

Fandino, Richard A; Brady, Noah K; Chatterjee, Martik; McDonald, Jeanne M C; Livraghi, Luca; van der Burg, Karin R L; Mazo-Vargas, Anyi; Markenscoff-Papadimitriou, Eirene; Reed, Robert D

Nr2f1 enhancers have distinct functions in controlling Nr2f1 expression during cortical development

Nr2f1增强子在皮层发育过程中对Nr2f1表达的调控具有不同的功能。

Liu, Zhidong; Ypsilanti, Athéna R; Markenscoff-Papadimitriou, Eirene; Dickel, Diane E; Sanders, Stephan J; Dong, Shan; Pennacchio, Len A; Visel, Axel; Rubenstein, John L

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

非编码剪接体snRNA基因RNU4-2的新生变异是综合征性神经发育障碍的常见病因。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Stenton, Sarah L; Walker, Susan; Ljungdahl, Alicia; Lord, Jenny; Ganesh, Vijay S; Ma, Jialan; Martin-Geary, Alexandra C; Lemire, Gabrielle; D'Souza, Elston N; Dong, Shan; Ellingford, Jamie M; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Evans, Carey-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Grant, Christina L; Haack, Tobias; Kuechler, Alma; Lalani, Seema R; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Maurer, Taylor M; Mendez, Hector R; Montgomery, Stephen B; Nassogne, Marie-Cécile; Neumann, Serena; O'Leary, Melanie; Palmer, Elizabeth E; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; Clair, Laura; Stark, Zornitza; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna El; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna Mm; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Machine learning dissection of human accelerated regions in primate neurodevelopment

机器学习解剖人类灵长类神经发育加速区域

Sean Whalen, Fumitaka Inoue, Hane Ryu, Tyler Fair, Eirene Markenscoff-Papadimitriou, Kathleen Keough, Martin Kircher, Beth Martin, Beatriz Alvarado, Orry Elor, Dianne Laboy Cintron, Alex Williams, Md Abul Hassan Samee, Sean Thomas, Robert Krencik, Erik M Ullian, Arnold Kriegstein, John L Rubenstein,

Loss of pseudo-momentum, energy-release rate and the effective mass of a moving dislocation

运动位错的伪动量损失、能量释放率和有效质量

Markenscoff, Xanthippi

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

自闭症风险基因POGZ促进染色质可及性和簇状突触基因的表达

Eirene Markenscoff-Papadimitriou ,Fadya Binyameen ,Sean Whalen ,James Price ,Kenneth Lim ,Athena R Ypsilanti ,Rinaldo Catta-Preta ,Emily Ling-Lin Pai ,Xin Mu ,Duan Xu ,Katherine S Pollard ,Alex S Nord ,Matthew W State ,John L Rubenstein

A Chromatin Accessibility Atlas of the Developing Human Telencephalon

人类端脑发育过程中染色质可及性图谱

Eirene Markenscoff-Papadimitriou, Sean Whalen, Pawel Przytycki, Reuben Thomas, Fadya Binyameen, Tomasz J Nowakowski, Arnold R Kriegstein, Stephan J Sanders, Matthew W State, Katherine S Pollard, John L Rubenstein

Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz

在缺乏自闭症相关基因Pogz的小鼠中,焦虑相关回避行为期间海马-前额叶皮层通讯发生改变。

Cunniff, Margaret M; Markenscoff-Papadimitriou, Eirene; Ostrowski, Julia; Rubenstein, John Lr; Sohal, Vikaas Singh

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

全基因组新生风险评分表明启动子变异与自闭症谱系障碍有关

An, Joon-Yong; Lin, Kevin; Zhu, Lingxue; Werling, Donna M; Dong, Shan; Brand, Harrison; Wang, Harold Z; Zhao, Xuefang; Schwartz, Grace B; Collins, Ryan L; Currall, Benjamin B; Dastmalchi, Claudia; Dea, Jeanselle; Duhn, Clif; Gilson, Michael C; Klei, Lambertus; Liang, Lindsay; Markenscoff-Papadimitriou, Eirene; Pochareddy, Sirisha; Ahituv, Nadav; Buxbaum, Joseph D; Coon, Hilary; Daly, Mark J; Kim, Young Shin; Marth, Gabor T; Neale, Benjamin M; Quinlan, Aaron R; Rubenstein, John L; Sestan, Nenad; State, Matthew W; Willsey, A Jeremy; Talkowski, Michael E; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J