Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Authors: Elizabeth E Palmer; Michael Pusch; Alessandra Picollo; Caitlin Forwood; Matthew H Nguyen; Vanessa Suckow; Jessica Gibbons; Alva Hoff; Lisa Sigfrid; Andre Megarbane; Mathilde Nizon; Benjamin Cogné; Claire Beneteau; Fowzan S Alkuraya; Aziza Chedrawi; Mais O Hashem; Hannah Stamberger; Sarah Weckhuysen; Arnaud Vanlander; Berten Ceulemans; Sulekha Rajagopalan; Kenneth Nunn; Stéphanie Arpin; Martine Raynaud; Constance S Motter; Catherine Ward-Melver; Katrien Janssens; Marije Meuwissen; Diane Beysen; Nicola Dikow; Mona Grimmel; Tobias B Haack; Emma Clement; Amy McTague; David Hunt; Sharron Townshend; Michelle Ward; Linda J Richards; Cas Simons; Gregory Costain; Lucie Dupuis; Roberto Mendoza-Londono; Tracy Dudding-Byth; Jackie Boyle; Carol Saunders; Emily Fleming; Salima El Chehadeh; Marie-Aude Spitz; Amelie Piton; Bénédicte Gerard; Marie-Thérèse Abi Warde; Gillian Rea; Caoimhe McKenna; Sofia Douzgou; Siddharth Banka; Cigdem Akman; Jennifer M Bain; Tristan T Sands; Golder N Wilson; Erin J Silvertooth; Lauren Miller; Damien Lederer; Rani Sachdev; Rebecca Macintosh; Olivier Monestier; Deniz Karadurmus; Felicity Collins; Melissa Carter; Luis Rohena; Marjolein H Willemsen; Charlotte W Ockeloen; Rolph Pfundt; Sanne D Kroft; Michael Field; Francisco E R Laranjeira; Ana M Fortuna; Ana R Soares; Vincent Michaud; Sophie Naudion; Sailaja Golla; David D Weaver; Lynne M Bird; Jennifer Friedman; Virginia Clowes; Shelagh Joss; Laura Pölsler; Philippe M Campeau; Maria Blazo; Emilia K Bijlsma; Jill A Rosenfeld; Christian Beetz; Zöe Powis; Kirsty McWalter; Tracy Brandt; Erin Torti; Mikaël Mathot; Shekeeb S Mohammad; Ruth Armstrong; Vera M Kalscheuer
Collaborators: Addenbrooke's Hospital; Akron Children's Hospital; Baylor College of Medicine; Center for Molecular Neurology, VIB; Centogene GmbH; Centre Hospitalier Régional Universitaire de Tours; Centre Hospitalier Universitaire de Bordeaux; Children's Hospital of Eastern Ontario Research Institute; Children's Hospital of Orange County, CA (CHOC); Children's Mercy Research Institute; CHU Nantes, Service de Génétique Médicale, Nantes, France; CHU UCL-Namur; Columbia University Irving Medical Center; Garvan Institute of Medical Research; GeneDx; Genetics of Learning Disability Service; Ghent University Hospital; Great Ormond Street Hospital for Children NHS Foundation Trust; Haukeland University Hospital; Heidelberg University Hospital; Hillcrest Internal Medicine; Hôpitaux universitaires de Strasbourg; Human Genetics Department, Radboud University Medical Center; Imperial College London; Indiana University School of Medicine; Institut Jerome Lejeune; Istituto di Biofisica; Istituto Romagnolo per lo Studio dei Tumori (IRST); King Edward Memorial Hospital; King Faisal Specialist Hospital and Research Center; Laboratoire Maladies Rares: Génétique et Métabolisme; Lebanese American University; Leiden University Medical Center; Linköping University; Liverpool Women's Hospital; London North West University Healthcare NHS Trust; Long School of Medicine-UT Health San Antonio; Manchester University NHS Foundation Trust; Max Planck Institute for Molecular GeneticsIhnestr; Northern Ireland Regional Genetics Service; Pluryn, Residential Care Setting, Groesbeek; Praxis für Humangenetik Tuebingen; Princess Anne Hospital; Queen Elizabeth University Hospital; Rady Children's Hospital San Diego; San Antonio Military Medical Center; Sydney Children's Hospital; Texas Sports Psychiatry and Integrative Health; Texas Tech University Health Science Center; The Hospital for Sick Children, The University of Toronto; The University of Queensland; University of Manchester; University of Missouri Medical Center; University of Montreal; University of New South Wales; University of Newcastle; University of Porto; Vrije Universiteit Amsterdam; Washington University School of Medicine, St. Louis Children’s Hospital