Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
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Authors: Dong Li, Qin Wang, Allan Bayat, Mark R Battig, Yijing Zhou, Daniëlle GM Bosch, Gijs van Haaften, Leslie Granger, Andrea K Petersen, Luis A Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A Keena, Michael E March, Cuiping Hou
and 133 other authors
Nora O’Connor, Elizabeth J Bhoj, Margaret H Harr, Gabrielle Lemire, Kym M Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J Maarup, Melissa Byler, Robert Roger Lebel, Tugce B Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M Maas, Mahdi M Motazacker, Julian A Martinez-Agosto, Ahna M Rabani, Elizabeth M McCormick, Marni J Falk, Sarah M Ruggiero, Ingo Helbig, Rikke S Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M Krawitz, Mythily Ganapathi, Bruce D Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna CE Hurst, Michelle L Thompson, Ryan Schmidt, Linda Randolph, Rebecca C Spillmann, Vandana Shashi, Edward J Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert BA de Vries, Marjon A van Slegtenhorst, Alice S Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H Zackai, Naiara Akizu, Yuanquan Song, Hakon HakonarsonPublished: 2 January 2024
Type: Research article
Status: data only (how the code is found and verified)
DOI: 10.1172/jci171235
License: CC BY
Institutions: Children's Hospital of Philadelphia (United States), Centre for Applied Genomics (Canada), University of Pennsylvania (United States), University of Copenhagen (Denmark), University of Southern Denmark (Denmark), Erasmus MC (Netherlands), Utrecht University (Netherlands), University Medical Center Utrecht (Netherlands), Legacy Emanuel Medical Center (United States), Randall Children's Hospital at Legacy Emanuel (United States), Universitat Pompeu Fabra (Spain), Instituto de Salud Carlos III (Spain), Centre for Biomedical Network Research on Rare Diseases (Spain), Municipal Institute for Medical Research (Spain), Hospital del Mar Research Institute (Spain), Hospital Del Mar (Spain), Charles University (Czechia), University Hospital in Motol (Czechia), University of Ottawa (Canada), Children's Hospital of Eastern Ontario (Canada), Ambry Genetics (United States) (United States), Invitae (United States) (United States), McMaster Children's Hospital (Canada), McMaster University (Canada), Sheffield Children's Hospital (United Kingdom), University Health Network (Canada), Bambino Gesù Children's Hospital (Italy), Istituti di Ricovero e Cura a Carattere Scientifico (Italy), Rady Children's Institute for Genomic Medicine (United States), University of Utah (United States), University of Genoa (Italy), Istituto Giannina Gaslini (Italy), Kaiser Permanente (United States), Kaiser Permanente San Diego Medical Center (United States), SUNY Upstate Medical University (United States), London Health Sciences Centre (Canada), Greenwood Genetic Center (United States), Boston Children's Hospital (United States), Massachusetts General Hospital (United States), Hôpital Armand-Trousseau (France), Assistance Publique – Hôpitaux de Paris (France), Friedrich-Alexander-Universität Erlangen-Nürnberg (Germany) , Pitié-Salpêtrière Hospital (France), Amsterdam UMC Location University of Amsterdam (Netherlands), University of Amsterdam (Netherlands), Amsterdam University Medical Centers (Netherlands), University of California, Los Angeles (United States), National Institutes of Health (United States), National Cancer Institute (United States), Center for Cancer Research (United States), University of Bonn (Germany), University Hospital Bonn (Germany), Columbia University Irving Medical Center (United States), New York Genome Center (United States), Child Health and Development Institute (United States), Icahn School of Medicine at Mount Sinai (United States), Albert Einstein College of Medicine (United States), Centre Hospitalier Universitaire Sainte-Justine (Canada), CHU Sainte-Justine Research Center (Canada), Université de Montréal (Canada), Inserm (France), Université de Bourgogne (France), CHU Dijon Bourgogne (France), Centre de recherche Translationnelle en Médecine moléculaire (France), Centre Hospitalier Universitaire de Rennes (France), Central Michigan University (United States), Children's Hospital of Michigan (United States), University of Catania (Italy), Oasi Maria SS (Italy), I.R.C.C.S. Oasi Maria SS (Italy), University of Campania "Luigi Vanvitelli" (Italy), Telethon Institute Of Genetics And Medicine (Italy), Juntendo University (Japan), Yokohama City University (Japan), Yokohama City University Hospital (Japan), Kyushu University (Japan), Japanese Red Cross Karatsu Hospital (Japan), Universitätsmedizin Göttingen (Germany), German Centre for Cardiovascular Research (Germany), Multiscale Bioimaging (Germany), University of Göttingen (Germany), University of Alabama at Birmingham (United States), HudsonAlpha Institute for Biotechnology (United States), University of Southern California (United States), Children's Hospital Los Angeles (United States), Duke University (United States), Duke Medical Center (United States), Hospital for Sick Children (Canada), Université Paris-Est Créteil (France), Hôpitaux Universitaires Henri-Mondor (France), Institut Mondor de Recherche Biomédicale (France), Hospital Universitario La Paz (Spain), University of Toronto (Canada), Cook Children's Medical Center (United States), Cook Children's Health Care System (United States), University of South Florida (United States), Centre National de la Recherche Scientifique (France), Centre Hospitalier Universitaire de Nantes (France), Institut du Thorax (France), Nantes Université (France), deCODE Genetics (Iceland) (Iceland), University of Iceland (Iceland), Aix-Marseille Université (France), Hôpital de la Timone (France), Centre de Génétique Médicale de Marseille (France), Hôpital Necker-Enfants Malades (France), Université Paris Cité (France), Institut des Maladies Génétiques Imagine (France), South Australia Pathology (Australia), Women's and Children's Hospital (Australia), The University of Adelaide (Australia), Women's and Children's Health Network (Australia), South Australian Health and Medical Research Institute (Australia), Cincinnati Children's Hospital Medical Center (United States), Radboud University Nijmegen (Netherlands), Radboud University Medical Center (Netherlands), Donders Institute for Brain, Cognition and Behaviour (Netherlands), Copenhagen University Hospital (Denmark), Rigshospitalet (Denmark), Kennedy Center (Denmark)
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