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收藏分享 收藏 Integrated multi-omic characterizations of the synapse reveal RNA processing factors and ubiquitin ligases associated with neurodevelopmental disorders整合的多组学表征揭示了与神经发育障碍相关的突触RNA加工因子和泛素连接酶。
Mei, Yuan; Gosztyla, Maya L.; Tan, Xinzhu; Dozier, Lara E.; Wilkinson, Brent; McKetney, Justin; Lee, John; Chen, Michael; Tsai, Dorothy; Kopalle, Hema; Gritsenko, Marina A.; Hartel, Nicolas; Graham, Nicholas A.; Flores, Ilse; Gilmore-Hall, Stephen K.; Xu, Shuhao; Marquez, Charlotte A.; Liu, Sophie N.; Fong, Dylan; Chen, Jing; Licon, Kate; Hong, Derek; Wright, Sarah N.; Kreisberg, Jason F.; Nott, Alexi; Smith, Richard D.; Qian, Wei-Jun; Swaney, Danielle L.; Iakoucheva, Lilia M.; Krogan, Nevan J.; Patrick, Gentry N.; Zhou, Yang; Feng, Guoping; Coba, Marcelo P.; Yeo, Gene W.; Ideker, Trey 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism (vol 11, 3650, 2014)Corominas, Roser; Yang, Xinping; Lin, Guan Ning; Kang, Shuli; Shen, Yun; Ghamsari, Lila; Broly, Martin; Rodriguez, Maria; Tam, Stanley; Wanamaker, Shelly A.; Fan, Changyu; Yi, Song; Tasan, Murat; Lemmens, Irma; Kuang, Xingyan; Zhao, Nan; Malhotra, Dheeraj; Michaelson, Jacob J.; Vacic, Vladimir; Calderwood, Michael A.; Roth, Frederick P.; Tavernier, Jan; Horvath, Steve; Salehi-Ashtiani, Kourosh; Korkin, Dmitry; Sebat, Jonathan; Hill, David E.; Hao, Tong; Vidal, Marc; Iakoucheva, Lilia M. 分享 收藏 A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex (Jun, 10.1038/s41588-022-01064-5, 2022)Antaki, Danny; Guevara, James; Maihofer, Adam X.; Klein, Marieke; Gujral, Madhusudan; Grove, Jakob; Carey, Caitlin E.; Hong, Oanh; Arranz, Maria J.; Hervas, Amaia; Corsello, Christina; Vaux, Keith K.; Muotri, Alysson R.; Iakoucheva, Lilia M.; Courchesne, Eric; Pierce, Karen; Gleeson, Joseph G.; Robinson, Elise B.; Nievergelt, Caroline M.; Sebat, Jonathan 分享 收藏 A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sexAntaki, Danny; Guevara, James; Maihofer, Adam X.; Klein, Marieke; Gujral, Madhusudan; Grove, Jakob; Carey, Caitlin E.; Hong, Oanh; Arranz, Maria J.; Hervas, Amaia; Corsello, Christina; Vaux, Keith K.; Muotri, Alysson R.; Iakoucheva, Lilia M.; Courchesne, Eric; Pierce, Karen; Gleeson, Joseph G.; Robinson, Elise B.; Nievergelt, Caroline M.; Sebat, Jonathan 分享 收藏 A PHENOTYPIC SPECTRUM OF AUTISM IS ATTRIBUTABLE TO THE COMBINED EFFECTS OF RARE VARIANTS, POLYGENIC RISK AND SEXSebat, Jonathan; Antaki, Daniel; Maihofer, Adam X.; Klein, Marieke; Guevara, James; Grove, Jakob; Carey, Caitlin; Hong, Oanh; Arranz, M. J.; Hervas, Amaja; Corsello, Christina; Iakoucheva, Lilia; Gleeson, Joe; Robinson, Elise; Nievergelt, Caroline M. 分享 收藏 分享 收藏 Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism (Aug, 10.1038/s41380021-01243-6, 2021)Urresti, Jorge; Zhang, Pan; Moran-Losada, Patricia; Yu, Nam-Kyung; Negraes, Priscilla D.; Trujillo, Cleber A.; Antaki, Danny; Amar, Megha; Chau, Kevin; Pramod, Akula Bala; Diedrich, Jolene; Tejwani, Leon; Romero, Sarah; Sebat, Jonathan; Yates, John R., III; Muotri, Alysson R.; Iakoucheva, Lilia M. 分享 收藏 Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism皮质类器官模型在自闭症中被16 p11.2拷贝数变异破坏的早期大脑发育Urresti, Jorge; Zhang, Pan; Moran-Losada, Patricia; Yu, Nam-Kyung; Negraes, Priscilla D.; Trujillo, Cleber A.; Antaki, Danny; Amar, Megha; Chau, Kevin; Pramod, Akula Bala; Diedrich, Jolene; Tejwani, Leon; Romero, Sarah; Sebat, Jonathan; Yates, John R., III; Muotri, Alysson R.; Iakoucheva, Lilia M. 分享 收藏 Full-length isoform transcriptome of the developing human brain provides further insights into autismChau, Kevin K.; Zhang, Pan; Urresti, Jorge; Amar, Megha; Pramod, Akula Bala; Chen, Jiaye; Thomas, Amy; Corominas, Roser; Lin, Guan Ning; Iakoucheva, Lilia M. 分享 收藏 Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signalingAmar, Megha; Pramod, Akula Bala; Yu, Nam-Kyung; Herrera, Victor Munive; Qiu, Lily R.; Moran-Losada, Patricia; Zhang, Pan; Trujillo, Cleber A.; Ellegood, Jacob; Urresti, Jorge; Chau, Kevin; Diedrich, Jolene; Chen, Jiaye; Gutierrez, Jessica; Sebat, Jonathan; Ramanathan, Dhakshin; Lerch, Jason P.; Yates, John R., III; Muotri, Alysson R.; Iakoucheva, Lilia M. 分享 收藏 Inferring the molecular and phenotypic impact of amino acid variants with MutPred2用MutPred2推断氨基酸变体的分子和表型影响Pejaver, Vikas; Urresti, Jorge; Lugo-Martinez, Jose; Pagel, Kymberleigh A.; Lin, Guan Ning; Nam, Hyun-Jun; Mort, Matthew; Cooper, David N.; Sebat, Jonathan; Iakoucheva, Lilia M.; Mooney, Sean D.; Radivojac, Predrag 分享 收藏 16P11.2 PATIENT-DERIVED CEREBRAL ORGANOIDS SHOW MIGRATION AND SYNAPTIC DEFECTSUrresti, Jorge; Losada, Patricia Moran; Zhang, Pan; Negraes, Priscilla D.; Kyung-Yu, Nam; Trujillo, Cleber; Tejwani, Leon; Romero, Sarah; Amar, Megha; Antaki, Danny; Sebat, Jonathan; Yates, John, III; Muotri, Alysson; Iakoucheva, Lilia M. 分享 收藏 AUTISM-ASSOCIATED GERMLINE DE NOVO CULLIN3 MUTATIONS SEVERELY IMPACT MOUSE BRAIN DEVELOPMENTAmar, Megha; Bala, Pramod Akula; Herrera, Victor M.; Zhang, Pan; Losada, Patricia Moran; Kyung-Yu, Nam; Qiu, Lily; Mehta, Punit; Urresti, Jorge; Ramanathan, Dhakshin; Lerch, Jason; Yates, John, III; Muotri, Alysson; Iakoucheva, Lilia 分享 收藏 分享 收藏 Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development16 p11.2拷贝数变异对颅面发育的寡致效应Qiu, Yuqi; Arbogast, Thomas; Lorenzo, Sandra Martin; Li, Hongying; Tang, Shih C.; Richardson, Ellen; Hong, Oanh; Cho, Shawn; Shanta, Omar; Pang, Timothy; Corsello, Christina; Deutsch, Curtis K.; Chevalier, Claire; Davis, Erica E.; Iakoucheva, Lilia M.; Herault, Yann; Katsanis, Nicholas; Messer, Karen; Sebat, Jonathan 分享 收藏 
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