Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
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; Nora O'Connor; Elizabeth J Bhoj; Alexandra Afenjar; 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; 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 M 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 Marie 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 Hakonarson
Collaborators: Albert Einstein College of Medicine; Bambino Gesu Children's Hospital; Boston Children's Hospital; Central Michigan University; Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic; Children's Hospital Los Angeles; Children's Hospital of Michigan; Children's Hospital of Philadelphia; CHU Dijon Bourgogne; CHU Nantes, Service de Génétique Médicale, Nantes, France; Cincinnati Children’s Hospital Medical Center; Columbia University Irving Medical Center; Cook Children's Hospital; Copenhagen University Hospital; David Geffen School of Medicine, UCLA; Duke University School of Medicine; Genome Diagnostics; Greenwood Genetic Center; Hôpital Necker-Enfants Malades; Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière; HudsonAlpha Institute for Biotechnology; Human Genetics Department, Radboud University Medical Center; Icahn School of Medicine at Mount Sinai; Inserm; Integriertes Sozialpädiatrisches Zentrum; Invitae Corporation; Juntendo University; Kaiser Permanente; Karatsu Red Cross Hospital; Kyushu University; La Pitié-Salpêtrière Hospital; London Health Sciences Centre; Massachusetts General Hospital; National Cancer Institute; New York Genome Center; Oasi Research Institute; Rady Children's Hospital San Diego; Reykjavik University; SeqOIA; Sheffield Children's Hospital; South Australian Health and Medical; SUNY Upstate Medical University, Syracuse, NY; Telethon Institute of Genetics and Medicine; The Danish Epilepsy Centre; Timone Hospital; Università degli Studi di Genova; University Health Network; University Hospital Bonn; University Medical Center Göttingen; University of Alabama; University of Amsterdam; University of Campania; University of Catania; University of Iceland; University of Illinois Chicago; University of Montreal; University of Ottawa; University of Pennsylvania; University of South Florida; University of Southern California; University of Toronto; University of Utah; University Paris Est Creteil; Women's and Children's Hospital, North Adelaide; Yokohama City University Graduate School of Medicine