Not logged in.png)
Share.png)
SaveShare Save Share Save Share Save Share Save The role of CSNK1A1 and its de novo mutations in infantile spasms syndrome
Ren, Decheng; Yang, Zhenxi; Hu, Juan; Ji, Lei; Bi, Yan; Yuan, Fan; Yan, Yang; Peng, Jing; Li, Keyi; Yang, Ke; Liu, Liangjie; Mao, Xiao; Luo, Yingying; Wang, Yanlin; He, Guang; Li, Kai; Peng, Ying Share Save Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disordersLuo, Sheng; Wang, Peng-Yu; Zhou, Peng; Zhang, Wen-Jun; Gu, Yu-Jie; Liang, Xiao-Yu; Zhang, Jing-Wen; Luo, Jun-Xia; Zhang, Hong-Wei; Lan, Song; Zhang, Ting-Ting; Yang, Jie-Hua; Sun, Su-Zhen; Guo, Xiang-Yang; Wang, Ju-Li; Deng, Lin-Fan; Xu, Ze-Hai; Jin, Liang; He, Yun-Yan; Ye, Zi-Long; Gu, Wei-Yue; Li, Bing-Mei; Shi, Yi-Wu; Liu, Xiao-Rong; Yan, Hong-Jun; Yi, Yong-Hong; Jiang, Yu-Wu; Mao, Xiao; Li, Wen-Ling; Meng, Heng; Liao, Wei-Ping Share Save MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureKarayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Mcconkey, Haley; Shvedunova, Maria; Petersen, Andrea K.; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, Andre; Savatt, Juliann M.; Mulligan, Meghan R.; Bicknell, Louise S.; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie s.; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Feldman, Hagit Baris; Mckee, Shane; Krapels, Ingrid P. C.; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; Mcconnell, Vivienne; Chassevent, Anna; Baranano, Kristin W.; Shashi, Vandana; Sullivan, Jennifer A.; Peron, Angela; Iascone, Maria; Canevini, Maria P.; Friedman, Jennifer; Reyes, Iris A.; Kierstein, Janell; Shen, Joseph J.; Ahmed, Faria N.; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G.; Rousseau, Justine; Myers, Kenneth A.; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M. Share Save De novo variants in KCNJ3 are associated with early-onset epilepsyLi, Juan; Mei, Shiyue; Mao, Xiao; Wan, Lily; Wang, Hua; Xiao, Bo; Song, Yanmin; Gu, Weiyue; Liu, Yan; Long, Lili Share Save Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesNil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survivalMa, Mengqi; Zhang, Xi; Zheng, Yiming; Lu, Shenzhao; Pan, Xueyang; Mao, Xiao; Pan, Hongling; Chung, Hyung-lok; Wang, Hua; Guo, Hong; Bellen, Hugo J. Share Save Share Save DNAH14 variants are associated with neurodevelopmental disordersLi, Juan; Yuan, Yu; Liu, Chaorong; Xu, Yuchen; Xiao, Neng; Long, Hongyu; Luo, Zhaohui; Meng, Shujuan; Wang, Hua; Xiao, Bo; Mao, Xiao; Long, Lili Share Save Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanismsHuang, Yan; Ma, Mengqi; Mao, Xiao; Pehlivan, Davut; Kanca, Oguz; Un-Candan, Feride; Shu, Li; Akay, Gulsen; Mitani, Tadahiro; Lu, Shenzhao; Candan, Sukru; Wang, Hua; Xiao, Bo; Lupski, James R.; Bellen, Hugo J. Share Save Share Save Share Save De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresMalhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Sobreira, Nara Lygia de Macena; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; Wang, Hua; Zhang, Hainan; Perry, Denise L.; Ferrarini, Alessandra; Colombo, Roberto; Pepler, Alexander; Schneider, Adele; Tomiwa, Kiyotaka; Okamoto, Nobuhiko; Matsumoto, Naomichi; Miyake, Noriko; Taft, Ryan; Mao, Xiao; Bonneau, Dominique Share Save Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delayHuang, Yan; Mao, Xiao; van Jaarsveld, Richard H.; Shu, Li; Terhal, Paulien A.; Jia, Zhengjun; Xi, Hui; Peng, Ying; Yan, Huiming; Yuan, Shan; Li, Qibin; Wang, Hua; Bellen, Hugo J. Share Save Share Save Proline-Rich Transmembrane Protein 2-Negative Paroxysmal Kinesigenic Dyskinesia: Clinical and Genetic Analyses of 163 PatientsTian, Wo-Tu; Huang, Xiao-Jun; Mao, Xiao; Liu, Qing; Liu, Xiao-Li; Zeng, Sheng; Guo, Xia-Nan; Shen, Jun-Yi; Xu, Yang-Qi; Tang, Hui-Dong; Yin, Xiao-Meng; Zhang, Mei; Tang, Wei-Guo; Liu, Xiao-Rong; Tang, Bei-Sha; Chen, Sheng-Di; Cao, Li Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}