Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
剪接体功能障碍会导致具有重叠特征的神经发育障碍。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI171235
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
