未登录An Emerging Pediatric CNS Tumor: Imaging Evaluation of H3K27M and BRAF V600E Comutated Midline Tumors一种新兴的儿科中枢神经系统肿瘤：H3K27M和BRAF V600E共突变中线肿瘤的影像学评估
Rameh, Vanessa; Aker, Loai; Vajapeyam, Sridhar; Ziaei, Alireza; Yeo, Kee Kiat; Alves, Cesar; Baird, Lissa C.; Fehnel, Katie P.; Wright, Karen; Chi, Susan; Lidov, Hart G.; Alexandrescu, Sanda; Poussaint, Tina Y. .png)
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收藏分享 收藏 Nanopore DNA Methylation Sequencing Simulates Rapid Intraoperative Diagnosis of Pediatric Brain Tumors纳米孔DNA甲基化测序模拟快速术中诊断儿童脑肿瘤Jarvis, Casey; Benfatto, Salvatore; Castellani, Sophia; Couvillon, Elsa; Abdullaev, Ziedulla; Lidov, Hart; Adalpe, Kenneth; Hovestadt, Volker; Alexandrescu, Sanda; Filbin, Mariella; Baird, Lissa 分享 收藏 Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants对立体脑电图电极上脑组织来源的DNA进行分析，揭示了镶嵌性癫痫相关变异。D'Gama, Alissa M.; Phillips, Harold Westley; Wang, Yilan; Chiu, Michelle Y.; Chahine, Yasmine; Swanson, Amanda C.; Smith, Richard S.; Pearl, Phillip L.; Tsuboyama, Melissa; Madsen, Joseph R.; Lidov, Hart; Lee, Eunjung Alice; Prabhu, Sanjay P.; Huang, August Yue; Stone, Scellig S. D.; Walsh, Christopher A.; Poduri, Annapurna 分享 收藏 H3K27M-and BRAF V600E-Altered gliomas and glioneuronal tumors-clinico-pathologic and radiologic perspective in a cohort treated with targeted therapyH3K27M和 BRAF V600E 突变胶质瘤及胶质神经元肿瘤——靶向治疗队列的临床病理和影像学视角Chen, Carolyn G.; Rameh, Vanessa; Rosenberg, Tom; Yeo, Kee Kiat; Chi, Susan; Wright, Karen D.; Baird, Lissa C.; Filbin, Mariella G.; Fehnel, Katie P.; Abdullaev, Zied; Aldape, Kenneth D.; Lidov, Hart G.; Alexandrescu, Sanda 分享 收藏 Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine在快速溶解的微泡中全身注入氧气可改善猪严重低氧血症的结果Mancebo, Julia Garcia; Sack, Kristen; Hartford, Jay; Dominguez, Saffron; Balcarcel-Monzon, Michelle; Chartier, Elizabeth; Nguyen, Tien; Cole, Alexis R.; Sperotto, Francesca; Harrild, David M.; Polizzotti, Brian D.; Everett, Allen D.; Packard, Alan B.; Dearling, Jason; Nedder, Arthur G.; Warfield, Simon; Yang, Edward; Lidov, Hart G. W.; Kheir, John N.; Peng, Yifeng 分享 收藏 Clinical utility of DNA methylation profiling for choroid plexus tumorsYeo, Kee Kiat; Macrae, Cassie B.; Gampel, Bradley; Ahrendsen, Jared T.; Lidov, Hart; Wright, Karen D.; Chi, Susan; Fehnel, Katie; Baird, Lissa; Clymer, Jessica; Aldape, Kenneth; Alexandrescu, Sanda 分享 收藏 Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyPhillips, H. Westley; D'Gama, Alissa M.; Wang, Yilan; Chahine, Yasmine; Chiu, Michelle; Swanson, Amanda C.; Ahtam, Banu; Bolton, Jeffrey B.; Madsen, Joseph R.; Lee, Eunjung A.; Prabhu, Sanjay P.; Lidov, Hart G.; Papadakis, Joanna; Huang, August Y.; Poduri, Annapurna; Stone, Scellig S.; Walsh, Christopher A. 分享 收藏 分享 收藏 Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsyMiller, Katherine E.; Rivaldi, Adithe C.; Shinagawa, Noriyuki; Sran, Sahib; Navarro, Jason B.; Westfall, Jesse J.; Miller, Anthony R.; Roberts, Ryan D.; Akkari, Yassmine; Supinger, Rachel; Hester, Mark E.; Marhabaie, Mohammad; Gade, Meethila; Lu, Jinfeng; Rodziyevska, Olga; Bhattacharjee, Meenakshi B.; Von Allmen, Gretchen K.; Yang, Edward; Lidov, Hart G. W.; Harini, Chellamani; Shah, Manish N.; Leonard, Jeffrey; Pindrik, Jonathan; Shaikhouni, Ammar; Goldman, James E.; Pierson, Christopher R.; Thomas, Diana L.; Boue, Daniel R.; Ostendorf, Adam P.; Mardis, Elaine R.; Poduri, Annapurna; Koboldt, Daniel C.; Heinzen, Erin L.; Bedrosian, Tracy A. 分享 收藏 Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy杜氏肌营养不良症患者接受大剂量rAAV9基因治疗后死亡Lek, Angela; Wong, Brenda; Keeler, Allison; Blackwood, Meghan; Ma, Kaiyue; Huang, Shushu; Sylvia, Katelyn; Batista, A. Rita; Artinian, Rebecca; Kokoski, Danielle; Parajuli, Shestruma; Putra, Juan; Carreon, C. Katte; Lidov, Hart; Woodman, Keryn; Pajusalu, Sander; Spinazzola, Janelle M.; Gallagher, Thomas; Larovere, Joan; Balderson, Diane; Black, Lauren; Sutton, Keith; Horgan, Richard; Lek, Monkol; Flotte, Terence 分享 收藏 Variants in DTNA cause a mild, dominantly inherited muscular dystrophyNascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bonnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel 分享 收藏 Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 GeneBarba, Carmen; Blumcke, Ingmar; Winawer, Melodie R.; Hartlieb, Till; Kang, Hoon-Chul; Grisotto, Laura; Chipaux, Mathilde; Bien, Christian G.; Hermanovska, Barbora; Porter, Brenda E.; Lidov, Hart G. W.; Cetica, Valentina; Woermann, Friedrich G.; Lopez-Rivera, Javier A.; Canoll, Peter D.; Mader, Irina; D'Incerti, Ludovico; Baldassari, Sara; Yang, Edward; Gaballa, Ahmed; Vogel, Hannes; Straka, Barbora; Macconi, Letizia; Polster, Tilman; Grant, Gerald A.; Krskova, Lenka; Shin, Hui Jin; Ko, Ara; Crino, Peter B.; Krsek, Pavel; Lee, Jeong Ho; Lal, Dennis; Baulac, Stephanie; Poduri, Annapurna; Guerrini, Renzo 分享 收藏 分享 收藏 Somatic variants in diverse genes leads to a spectrum of focal cortical malformations不同基因的体细胞变异导致一系列局灶性皮质畸形Lai, Dulcie; Gade, Meethila; Yang, Edward; Koh, Hyun Yong; Lu, Jinfeng; Walley, Nicole M.; Buckley, Anne F.; Sands, Tristan T.; Akman, Cigdem, I; Mikati, Mohamad A.; McKhann, Guy M.; Goldman, James E.; Canoll, Peter; Alexander, Allyson L.; Park, Kristen L.; Von Allmen, Gretchen K.; Rodziyevska, Olga; Bhattacharjee, Meenakshi B.; Lidov, Hart G. W.; Vogel, Hannes; Grant, Gerald A.; Porter, Brenda E.; Poduri, Annapurna H.; Crino, Peter B.; Heinzen, Erin L. 分享 收藏 Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma developmentGmnc-mcidas多iliogenesis程序的破坏在脉络丛癌的发展中起关键作用Li, Qun; Han, Zhiyuan; Singh, Navleen; Terre, Berta; Fame, Ryann M.; Arif, Uzayr; Page, Thomas D.; Zahran, Tasneem; Abdeltawab, Ahmed; Huang, Yuan; Cao, Ping; Wang, Jun; Lu, Hao; Lidov, Hart G. W.; Surendran, Kameswaran; Wu, Lizhao; Virga, James Q.; Zhao, Ying-Tao; Schueller, Ulrich; Wechsler-Reya, Robert J.; Lehtinen, Maria K.; Roy, Sudipto; Liu, Zhongmin; Stracker, Travis H.; Zhao, Haotian 分享 收藏 分享 收藏 Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profileGiannikou, Krinio; Zhu, Zachary; Kim, Jaegil; Winden, Kellen D.; Tyburczy, Magdalena E.; Marron, David; Parker, Joel S.; Hebert, Zachary; Bongaarts, Anika; Taing, Len; Long, Henry W.; Pisano, William V.; Alexandrescu, Sanda; Godlewski, Brianna; Nellist, Mark; Kotulska, Katarzyna; Jozwiak, Sergiusz; Roszkowski, Marcin; Mandera, Marek; Thiele, Elizabeth A.; Lidov, Hart; Getz, Gad; Devinsky, Orrin; Lawrence, Michael S.; Ligon, Keith L.; Ellison, David W.; Sahin, Mustafa; Aronica, Eleonora; Meredith, David M.; Kwiatkowski, David J. 分享 收藏 分享 收藏 Increasing value of autopsies in patients with brain tumors in the molecular eraAhrendsen, Jared T.; Filbin, Mariella G.; Chi, Susan N.; Manley, Peter E.; Wright, Karen D.; Bandopadhayay, Pratiti; Clymer, Jessica R.; Yeo, Kee Kiat; Kieran, Mark W.; Jones, Robert; Lidov, Hart G.; Ligon, Keith L.; Alexandrescu, Sanda 分享 收藏 
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