Not logged in Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders Kurganov, Erkin; Cui, Lei; Budnik, Nikita; Chen, Siwei; Olivares, Erick; Baez-Nieto, David; Asan, Ahmet S.; Lusk, Laina; Smith, Lacey; Jo, Sooyeon; Marques, Diogo; Nehme, Ralda; Mullegama, Sureni V.; Lindy, Amanda; George, Alfred L.; Poduri, Annapurna; Helbig, Ingo; Daly, Mark; Pan, Jen Q. Share Save
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Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants 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 Share Save
Discovery and mechanistic exploration of promiscuous xylosyltransferase based on protein engineering Zhang, Huanyu; Su, Yanfang; Yuan, Wei; Bo, Yaping; Zhao, Weiyi; Gao, Qingzhi; Qiao, Jianjun; Zhang, Guoqi; Meng, Jie; Huang, Luqi; Guo, Lanping Share Save
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N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward Defelippe, Victoria M.; Brilstra, Eva H.; Otte, Willem M.; Cross, Helen J.; O'Callaghan, Finbar; De Giorgis, Valentina; Poduri, Annapurna; Lerche, Holger; Sisodiya, Sanjay; Braun, Kees P. J.; Jansen, Floor E.; Perucca, Emilio Share Save
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable disorder Yoon, Jihoon G.; Lim, Seong-Kyun; Seo, Hoseok; Lee, Seungbok; Cho, Jaeso; Kim, Soo Yeon; Koh, Hyun Yong; Poduri, Annapurna H.; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; de Groot, Martijn J.; Ko, Jung Min; Han, Dohyun; Chae, Jong-Hee; Lee, Chul-Hwan Share Save
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Pichon, Jean -Baptiste Le; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sebastien; Denomme-Pichon, Anne -Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan Share Save
The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome Akula, Shyam K.; Quiroz, Vicente; D'Gama, Alissa M.; Chiu, Michelle Y.; Koh, Hyun Yong; Saffari, Afshin; Zaman, Zainab; Tam, Amy; Srouji, Rasha; Valentine, Rozalia; Wiltrout, Kimberly; Pinto, Anna; Harini, Chellamani; Pearl, Phillip L.; Poduri, Annapurna; Ebrahimi-Fakhari, Darius Share Save
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024) Paul, Maimuna S.; Michener, Sydney L.; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M.; Rosenfeld, Jill A.; Lerma, Vanesa C.; Tran, Alyssa; Longley, Megan A.; Lewis, Richard A.; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Perne, Claudia; Mester, Jessica L.; Sacoto, Maria J. Guillen; Person, Richard; McDonnell, Pamela P.; Cohen, Stacey R.; Lusk, Laina; Cohen, Ana S. A.; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Se Bastien; Denomme-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Suh, Dong Sun Julia; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Banos-Pinero, Benito; Pagnamenta, Alistair T.; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather; Bacino, Carlos A.; Lee, Brendan H.; Chao, Hsiao-Tuan Share Save
ZnO-S.cerevisiae: An effective growth promoter of Astragalus memeranaceus and nano-antifungal agent against Fusarium oxysporum Su, Yaowu; Yang, Wenqi; Wang, Rubing; Zhang, Huanyu; Meng, Jie; Jing, Hongyan; Zhang, Guoqi; Wang, Juan; Guo, Lanping; Gao, Wenyuan Share Save
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A New Potent Inhibitor against α-Glucosidase Based on an In Vitro Enzymatic Synthesis Approach Zhang, Huanyu; Che, Xiance; Jing, Hongyan; Su, Yaowu; Yang, Wenqi; Wang, Rubing; Zhang, Guoqi; Meng, Jie; Yuan, Wei; Wang, Juan; Gao, Wenyuan Share Save
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Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology Phillips, 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. Share Save
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders Almansa, Alexandra Santana; Gable, Dustin L.; Frazier, Zoe; Sveden, Abigail; Quinlan, Aisling; Chopra, Maya; Lewis, Sara A.; Kruer, Michael; Poduri, Annapurna; Srivastava, Siddharth Share Save
Microbial production and applications of β-glucosidase-A review Yang, Wenqi; Su, Yaowu; Wang, Rubing; Zhang, Huanyu; Jing, Hongyan; Meng, Jie; Zhang, Guoqi; Huang, Luqi; Guo, Lanping; Wang, Juan; Gao, Wenyuan Share Save
Clinical and functional consequences of GRIA variants in patients with neurological diseases XiangWei, Wenshu; Perszyk, Riley E.; Liu, Nana; Xu, Yuchen; Bhattacharya, Subhrajit; Shaulsky, Gil H.; Smith-Hicks, Constance; Fatemi, Ali; Fry, Andrew E.; Chandler, Kate; Wang, Tao; Vogt, Julie; Cohen, Julie S.; Paciorkowski, Alex R.; Poduri, Annapurna; Zhang, Yuehua; Wang, Shuang; Wang, Yuping; Zhai, Qiongxiang; Fang, Fang; Leng, Jie; Garber, Kathryn; Myers, Scott J.; Jauss, Robin-Tobias; Park, Kristen L.; Benke, Timothy A.; Lemke, Johannes R.; Yuan, Hongjie; Jiang, Yuwu; Traynelis, Stephen F. Share Save
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