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

Somatic cancer variants enriched in Alzheimer's disease microglia-like cells drive inflammatory and proliferative states

富集于阿尔茨海默病小胶质细胞样细胞中的体细胞癌变异会驱动炎症和增殖状态

Huang, August Yue; Zhou, Zinan; Talukdar, Maya; Enyenihi, Liz; Miller, Michael B; Chhouk, Brian; Rosen, Ila; Zheng, Mengyue; Zhou, Minye; Yang, Averill; Stronge, Edward; Durens, Madel; Nguyen, Minh; Choi, Jaejoon; Zhao, Boxun; Khoshkhoo, Sattar; Kim, Junho; Andersen, Rebecca; An, Zheming; Cheng, Yuchen; Ganz, Javier; Mekerishvili, Levan; Travaglini, Kyle J; Gabitto, Mariano I; Hodge, Rebecca D; Kaplan, Eitan S; Belk, Julia A; Landau, Dan; Lein, Ed S; De Jager, Philip L; Bennett, David A; Marro, Samuele G; Papapetrou, Eirini P; Lee, Eunjung Alice; Walsh, Christopher A

Somatic mutation in human cerebellum illustrates neuron type-specific patterns of age-related mutation

人类小脑的体细胞突变揭示了与年龄相关的神经元类型特异性突变模式

Essuman, Kow; Yang, Yingxi; Goodman, Eitan; Cambridge, Christie N; Cai, Chunhui; An, Zheming; Mao, Shulin; Manam, Monica Devi; Finander, Benjamin; Khoshkhoo, Sattar; Sun, Liang; Huang, August Yue; Walsh, Christopher A

Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy

激活Ras-MAPK通路变体驱动人类癫痫海马克隆竞争

Khoshkhoo, Sattar; Bae, Mingyun; Wang, Yilan; Tillett, Ashton; Ramirez, Rosita B; Finander, Benjamin; Egan, Emily D; Marx, Linus; Patel, Dipan; Zhou, Zinan; Chahine, Yasmine; Chhouk, Brian; Zoullas, Sofia M; Lai, Abbe; Coras, Roland; Bielle, Franck; Navarro, Vincent; Mathon, Bertrand; Valiante, Taufik A; Moradi Chameh, Homeira; Gao, Andrew F; Krings, Timo; Gooley, Samuel; Hildebrand, Michael S; Bulluss, Kristian; Clark, Jonathan; Morokoff, Andrew P; King, James A; Todaro, Marian; Kwan, Patrick; O'Brien, Terence J; Berkovic, Samuel F; Scheffer, Ingrid E; Perucca, Piero; Lapinskas, Emily; Rolston, John D; Cosgrove, G Rees; Sarkis, Rani A; D'Gama, Alissa M; Alexadrescu, Sanda; Yang, Edward; Poduri, Annapurna; Richardson, R Mark; Erson-Omay, E Zeynep; DeLanerolle, Nihal; Spencer, Dennis D; Brown, Katherine S-M; Miller, Michael B; Roberts, Amy E; Santos, Luana N; Kontaridis, Maria I; Bien, Christian G; Blacklow, Stephen C; Kahle, Kristopher T; Blümcke, Ingmar; Huang, August Yue; Lee, Eunjung Alice; Walsh, Christopher A

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

基于细胞类型信息的嵌合型局灶性癫痫基因分型揭示了细胞自主性和非细胞自主性的疾病相关转录程序

Bizzotto, Sara; Talukdar, Maya; Stronge, Edward A; Ramirez, Rosita B; Yang, Yingxi; Huang, August Yue; Hu, Qiwen; Hou, Yingping; Hylton, Norma K; Finander, Benjamin; Tillett, Ashton; Zhou, Zinan; Chhouk, Brian H; D'Gama, Alissa M; Yang, Edward; Green, Timothy E; Reutens, David C; Mullen, Saul A; Scheffer, Ingrid E; Hildebrand, Michael S; Buono, Russell J; Blümcke, Ingmar; Poduri, Annapurna H; Khoshkhoo, Sattar; Walsh, Christopher A

Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex

体细胞突变和转录组分析相结合揭示了人类皮层克隆结构的区域特异性差异

Viswanadham, Vinayak V; Kim, Sonia N; Caglayan, Emre; Doan, Ryan N; Dou, Yanmei; Bizzotto, Sara; Khoshkhoo, Sattar; Huang, August Yue; Yeh, Rebecca; Chhouk, Brian H; Truong, Alex; Chappell, Kathleen M; Beaudin, Marc; Barton, Alison; Akula, Shyam K; Zhao, Yifan; Rento, Lariza; Lodato, Michael; Szeto, Ryan A; Ganz, Javier; Li, Pengpeng; Tsai, Jessica W; Hill, Robert Sean; Park, Peter J; Walsh, Christopher A

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

深层组织测序可提高局灶性皮质发育不良的基因诊断率。

Galea Breana, Reid Joshua, Gooley Samuel, Witkowski Tom, Lane Tara, Macdonald Sian, Green Timothy E, Ye Zimeng, Adikari Thiuni, Bulluss Kristian, Mullen Saul A, Bennett Caitlin A, Forster Brialie, Bradshaw Gabi, Lin Wendi, De Silva Wasanthi, Ramirez Rosita B, Khoshkhoo Sattar, Gupta Sachin, Krivanek Michael, Kothur Kavitha, Gill Deepak, Pope Kate, Gillies Greta, Coleman Matthew, Lee Wei-Shern, Stephenson Sarah M, Maixner Wirginia, Harvey A Simon, Macdonald-Laurs Emma, Howell Katherine B, D'Arcy Colleen, Lockhart Paul J, Leventer Richard J, Kalnins Renata M, Clark Jonathan, Bennett Mark F, Bahlo Melanie, Scheffer Ingrid E, Perucca Piero, Berkovic Samuel F, Hildebrand Michael S

Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes

精神分裂症患者大脑中的体细胞嵌合体揭示了产前突变过程

Eduardo A Maury #, Attila Jones #, Vladimir Seplyarskiy #, Thanh Thanh L Nguyen, Chaggai Rosenbluh, Taejong Bae, Yifan Wang, Alexej Abyzov, Sattar Khoshkhoo, Yasmine Chahine, Sijing Zhao, Sanan Venkatesh, Elise Root, Georgios Voloudakis, Panagiotis Roussos; Brain Somatic Mosaicism Network‡; Peter J

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

第八届国际RAS病研讨会:通过全球合作与倡导拓展研究和治疗实践

Pierpont, Elizabeth I; Bennett, Anton M; Schoyer, Lisa; Stronach, Beth; Anschutz, April; Borrie, Sarah C; Briggs, Benjamin; Burkitt-Wright, Emma; Castel, Pau; Cirstea, Ion C; Draaisma, Fieke; Ellis, Michelle; Fear, Vanessa S; Frone, Megan N; Flex, Elisabetta; Gelb, Bruce D; Green, Tamar; Gripp, Karen W; Khoshkhoo, Sattar; Kieran, Mark W; Kleemann, Karolin; Klein-Tasman, Bonita P; Kontaridis, Maria I; Kruszka, Paul; Leoni, Chiara; Liu, Clifford Z; Merchant, Nadia; Magoulas, Pilar L; Moertel, Christopher; Prada, Carlos E; Rauen, Katherine A; Roelofs, Renée; Rossignol, Rodrigue; Sevilla, Christine; Sevilla, Gigi; Sheedy, Ryan; Stieglitz, Elliot; Sun, Daochun; Tiemens, Dagmar; White, Forest; Wingbermühle, Ellen; Wolf, Cordula; Zenker, Martin; Andelfinger, Gregor

Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia

体细胞癌症驱动突变在阿尔茨海默病小胶质细胞中富集并与炎症状态相关

August Yue Huang, Zinan Zhou, Maya Talukdar, Michael B Miller, Brian Chhouk, Liz Enyenihi, Ila Rosen, Edward Stronge, Boxun Zhao, Dachan Kim, Jaejoon Choi, Sattar Khoshkhoo, Junho Kim, Javier Ganz, Kyle Travaglini, Mariano Gabitto, Rebecca Hodge, Eitan Kaplan, Ed Lein, Philip L De Jager, David A Ben

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

海马体中 Ras/Raf/丝裂原活化蛋白激酶变异体在耐药性内侧颞叶癫痫中的作用

Khoshkhoo, Sattar; Wang, Yilan; Chahine, Yasmine; Erson-Omay, E Zeynep; Robert, Stephanie M; Kiziltug, Emre; Damisah, Eyiyemisi C; Nelson-Williams, Carol; Zhu, Guangya; Kong, Wenna; Huang, August Yue; Stronge, Edward; Phillips, H Westley; Chhouk, Brian H; Bizzotto, Sara; Chen, Ming Hui; Adikari, Thiuni N; Ye, Zimeng; Witkowski, Tom; Lai, Dulcie; Lee, Nadine; Lokan, Julie; Scheffer, Ingrid E; Berkovic, Samuel F; Haider, Shozeb; Hildebrand, Michael S; Yang, Edward; Gunel, Murat; Lifton, Richard P; Richardson, R Mark; Blümcke, Ingmar; Alexandrescu, Sanda; Huttner, Anita; Heinzen, Erin L; Zhu, Jidong; Poduri, Annapurna; DeLanerolle, Nihal; Spencer, Dennis D; Lee, Eunjung Alice; Walsh, Christopher A; Kahle, Kristopher T