檢索結果 - Renee D. George
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Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients’ Brain Lesions 由 Camila Araújo Bernardino Garcia, Muhammad Zubair, Marcelo Volpon Santos, Sang Hyun Lee, Ian D. Graham, Valentina Stanley, Renee D. George, Joseph G. Gleeson, Hélio Rubens Machado, Xiaoxu Yang
出版 2025Artigo -
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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly 由 Camila Araújo Bernardino Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Úrsula Thomé, Marcelo Volpon Santos, Fabiano Pinto Saggioro, Luciano Neder Serafini, Wilson A. Silva, Joseph G. Gleeson, Hélio Rubens Machado
出版 2020Artigo -
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Developmental and temporal characteristics of clonal sperm mosaicism 由 Xiaoxu Yang, Martin W. Breuss, Xin Xu, Danny Antaki, Kiely N. James, Valentina Stanley, Laurel Ball, Renee D. George, Sara A. Wirth, Beibei Cao, An Nguyen, Jennifer McEvoy‐Venneri, Guoliang Chai, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Jonathan Sebat, Joseph G. Gleeson
出版 2021Artigo -
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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism 由 Wendy Wenderski, Lu Wang, A. Krokhotin, Jessica J. Walsh, Hongjie Li, Hirotaka Shoji, Shereen G. Ghosh, Renee D. George, Erik L. Miller, Laura Elias, Mark A. Gillespie, Esther Son, Brett T. Staahl, Seung Tae Baek, Valentina Stanley, Cynthia Moncada-Reid, Zohar Shipony, Sara B. Linker, Maria C. Marchetto, Fred H. Gage, Dillon Chen, Tipu Sultan, Maha S. Zaki, Jeffrey A. Ranish, Tsuyoshi Miyakawa, Liqun Luo, Robert C. Malenka, Robert H. Crabtree, Joseph G. Gleeson
出版 2020Artigo -
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Autism risk in offspring can be assessed through quantification of male sperm mosaicism 由 Martin W. Breuss, Danny Antaki, Renee D. George, Morgan L. Kleiber, Kiely N. James, Laurel Ball, Oanh Hong, Ileena Mitra, Xiaoxu Yang, Sara A. Wirth, Jing Gu, Camila Araújo Bernardino Garcia, Madhusudan Gujral, William M. Brandler, Damir Musaev, An Nguyen, Jennifer McEvoy‐Venneri, Renatta Knox, Evan Sticca, Martha Cristina Cancino Botello, Javiera Uribe Fenner, Maria Cárcel Pérez, María J. Arranz, Andrea B. Moffitt, Zihua Wang, Amaia Hervás, Orrin Devinsky, Melissa Gymrek, Jonathan Sebat, Joseph G. Gleeson
出版 2019Artigo -
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Comprehensive multiomic profiling of somatic mutations in malformations of cortical development 由 Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Y. Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson
出版 2022Pré-impressão -
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Control-independent mosaic single nucleotide variant detection with DeepMosaic 由 Xiaoxu Yang, Xin Xu, Martin W. Breuss, Danny Antaki, Laurel Ball, Changuk Chung, Jiawei Shen, Chen Li, Renee D. George, Yifan Wang, Taejeong Bae, Yuhe Cheng, Alexej Abyzov, Liping Wei, Ludmil B. Alexandrov, Jonathan Sebat, Dan Averbuj, Subhojit Roy, Eric Courchesne, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Christopher A. Walsh, Javier Ganz, Michael A. Lodato, Michael Miller, Pengpeng Li, Rachel E. Rodin, Robert Hill, Sara Bizzotto, Sattar Khoshkhoo, Zinan Zhou, Alice Lee, Alison R. Barton, Alon Galor, Chong Chu, Craig L. Bohrson, D. Gulhan, Eduardo A. Maury, Elaine T. Lim, Eun‐Cheon Lim, Giorgio Melloni, Isidro Cortes, Jake Lee, Joe Luquette, Lixing Yang, Maxwell A. Sherman, Michael E. Coulter, Min‐Seok Kwon, Peter J. Park, Rebeca Borges-Monroy, Semin Lee, Sonia Kim, Soo In Lee, Vinary Viswanadham, Yanmei Dou, Andrew Chess, Attila Jones, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Sean Cho, Andrew E. Jaffe, Apuã C.M. Paquola, Daniel M. Weinberger, Jennifer A. Erwin, Jooheon Shin, Michael V. McConnell, Richard E. Straub, Rujuta Narurkar, Yeongjun Jang, Cindy Molitor, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alexander E. Urban, Bo Zhou, Xiaowei Zhu, Aitor Serres Amero, David Juan, Inna Povolotskaya, Irene Lobón, Manuel Solis Moruno, Raquel García-Pérez, Tomàs Marquès‐Bonet, Eduardo Soriano, Gary W. Mathern, Diane A. Flasch, Trenton J. Frisbie, Huira C. Kopera, Jeffrey M. Kidd, John B. Moldovan, John V. Moran, Kenneth Y. Kwan, Ryan E. Mills, Sarah B. Emery, Weichen Zhou
出版 2023Artigo -
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The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing 由 Rachel E. Rodin, Yanmei Dou, Minseok Kwon, Maxwell A. Sherman, Alissa M. D’Gama, Ryan N. Doan, Lariza M. Rento, Kelly M. Girskis, Craig L. Bohrson, Sonia N. Kim, Ajay Nadig, Lovelace J. Luquette, D. Gulhan, Christopher A. Walsh, Javier Ganz, Mollie B. Woodworth, Pengpeng Li, Rachel E. Rodin, Robert Hill, Sara Bizzotto, Zinan Zhou, Eunjung A. Lee, Alison R. Barton, Alissa M. D’Gama, Alon Galor, Craig L. Bohrson, Daniel H. Kwon, D. Gulhan, Elaine T. Lim, Isidro Cortes, Lovelace J. Luquette, Maxwell A. Sherman, Michael E. Coulter, Michael A. Lodato, Peter J. Park, Rebeca B. Monroy, Sonia N. Kim, Yanmei Dou, Andrew Chess, Attila Gulyás-Kovács, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Jonathan Pevsner, Soonweng Cho, Andrew E. Jaffe, Apuã C.M. Paquola, Daniel R. Weinberger, Jennifer A. Erwin, Jooheon Shin, Richard E. Straub, Rujuta Narurkar, Alexej Abyzov, Taejeong Bae, Anjené Addington, David M. Panchision, Yanmei Dou, Geetha Senthil, Lora Bingaman, Tara Dutka, Thomas Lehner, Laura Saucedo-Cuevas, Tara Conniff, Kenneth Daily, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alex E. Urban, Bo Zhou, Xiaowei Zhu, Aitor Serres, David Juan, Inna Povolotskaya, Irene Lobón, Manuel Solís-Moruno, Raquel García-Pérez, Tomàs Marquès‐Bonet, Gary W. Mathern, Jing Gu, Joseph G. Gleeson, Laurel Ball, Renee D. George, Tiziano Pramparo, Diane A. Flasch, Trenton J. Frisbie, Jeffrey M. Kidd, John B. Moldovan, John V. Moran, Kenneth Y. Kwan, Ryan E. Mills, Sarah B. Emery, Weichen Zhou, Yifan Wang, Aakrosh Ratan, Michael J. McConnell, Flora M. Vaccarino, Gianfilippo Coppola
出版 2021Artigo -
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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development 由 Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, David D. Limbrick, Christina A. Gurnett, Matthew D. Smyth, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson, Marilyn C. Jones, Diane Masser‐Frye, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Hélio Rubens Machado, Camila Araújo Bernardino Garcia, Wilson A. Silva, Se Hoon Kim, Hoon‐Chul Kang, Yasemin Alanay, Seema Kapoor, Carola A. Haas, Georgia Ramantani, Thomas J. Feuerstein, Ingmar Blümcke, Robyn M. Busch, Ying Zhong, Vadym Biloshytsky, Kostiantyn Kostiuk, Pedachenko Eg, Gary W. Mathern, Christina A. Gurnett, Matthew D. Smyth, Ingo Helbig, Benjamin C. Kennedy, Judy Liu, Felix Chan, Darcy A. Krueger, Richard E. Frye, Angus A. Wilfong, David L. Adelson, William D. Gaillard, Chima Oluigbo, Anne E. Anderson, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Christopher A. Walsh, Eduardo A. Maury, Javier Ganz
出版 2023Artigo
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