Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Daniëlle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Pérez-Jurado, Luis A.; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlíková Pourová, Radka; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; O’Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan C.; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith S.; 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 J.; Lyons, Michael J.; Douglas, Jessica; Nowak, Catherine B.; 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; Ange-Line, Bruel; 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 C. E.; Thompson, Michelle L.; Schmidt, Ryan J.; Randolph, Linda M.; 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 Abdallah, 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 M. R.; Shoubridge, Cheryl; Corbett, Mark A.; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen A.; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon

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Dong Li
Li et al., 2023

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American Society for Clinical Investigation, Journal of Clinical Investigation, 2023

DOI: 10.1172/jci171235

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@article{Li2023,
  author = {Li, Dong and Wang, Qin and Bayat, Allan and Battig, Mark R. and Zhou, Yijing and Bosch, Daniëlle G. M. and van Haaften, Gijs and Granger, Leslie and Petersen, Andrea K. and Pérez-Jurado, Luis A. and Aznar-Laín, Gemma and Aneja, Anushree and Hancarova, Miroslava and Bendova, Sarka and Schwarz, Martin and Kremlíková Pourová, Radka and Sedlacek, Zdenek and Keena, Beth A. and March, Michael E. and Hou, Cuiping and O'Connor, Nora and O’Connor, Nora and Bhoj, Elizabeth J. and Harr, Margaret H. and Lemire, Gabrielle and Boycott, Kym M. and Towne, Meghan C. and Li, Megan and Tarnopolsky, Mark and Brady, Lauren and Parker, Michael J. and Faghfoury, Hanna and Parsley, Lea Kristin and Agolini, Emanuele and Dentici, Maria Lisa and Novelli, Antonio and Wright, Meredith S. and Palmquist, Rachel and Lai, Khanh and Scala, Marcello and Striano, Pasquale and Iacomino, Michele and Zara, Federico and Cooper, Annina and Maarup, Timothy J. and Byler, Melissa and Lebel, Robert Roger and Balci, Tugce B. and Louie, Raymond J. and Lyons, Michael J. and Douglas, Jessica and Nowak, Catherine B. and Afenjar, Alexandra and Hoyer, Juliane and Keren, Boris and Maas, Saskia M. and Motazacker, Mahdi M. and Martinez-Agosto, Julian A. and Rabani, Ahna M. and McCormick, Elizabeth M. and Falk, Marni J. and Ruggiero, Sarah M. and Helbig, Ingo and Møller, Rikke S. and Tessarollo, Lino and Tomassoni-Ardori, Francesco and Palko, Mary Ellen and Hsieh, Tzung-Chien and Krawitz, Peter M. and Ganapathi, Mythily and Gelb, Bruce D. and Jobanputra, Vaidehi and Wilson, Ashley and Greally, John and Jacquemont, Sébastien and Jizi, Khadijé and Ange-Line, Bruel and Quelin, Chloé and Misra, Vinod K. and Chick, Erika and Romano, Corrado and Greco, Donatella and Arena, Alessia and Morleo, Manuela and Nigro, Vincenzo and Seyama, Rie and Uchiyama, Yuri and Matsumoto, Naomichi and Taira, Ryoji and Tashiro, Katsuya and Sakai, Yasunari and Yigit, Gökhan and Wollnik, Bernd and Wagner, Michael and Kutsche, Barbara and Hurst, Anna C. E. and Thompson, Michelle L. and Schmidt, Ryan J. and Randolph, Linda M. and Spillmann, Rebecca C. and Shashi, Vandana and Higginbotham, Edward J. and Cordeiro, Dawn and Carnevale, Amanda and Costain, Gregory and Khan, Tayyaba and Funalot, Benoît and Tran Mau-Them, Frederic and Fernandez Garcia Moya, Luis and García-Miñaúr, Sixto and Osmond, Matthew and Chad, Lauren and Quercia, Nada and Carrasco, Diana and Li, Chumei and Sanchez-Valle, Amarilis and Kelley, Meghan and Nizon, Mathilde and Jensson, Brynjar O. and Sulem, Patrick and Stefansson, Kari and Gorokhova, Svetlana and Busa, Tiffany and Rio, Marlène and Hadj Abdallah, Hamza and Lesieur-Sebellin, Marion and Amiel, Jeanne and Pingault, Véronique and Mercier, Sandra and Vincent, Marie and Philippe, Christophe and Fatus-Fauconnier, Clemence and Friend, Kathryn and Halligan, Rebecca K. and Biswas, Sunita and Rosser, Jane M. R. and Shoubridge, Cheryl and Corbett, Mark A. and Barnett, Christopher and Gecz, Jozef and Leppig, Kathleen A. and Slavotinek, Anne and Marcelis, Carlo and Pfundt, Rolph and de Vries, Bert B. A. and van Slegtenhorst, Marjon A. and Brooks, Alice S. and Cogne, Benjamin and Rambaud, Thomas and Tümer, Zeynep and Zackai, Elaine H. and Akizu, Naiara and Song, Yuanquan and Hakonarson, Hakon},
  doi = {10.1172/jci171235},
  journal = {Journal of Clinical Investigation},
  month = {nov},
  title = {Spliceosome malfunction causes neurodevelopmental disorders with overlapping features},
  url = {https://doi.org/10.1172/jci171235},
  year = {2023}
}

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