PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Authors: Frédéric Ebstein; Sébastien Küry; Victoria Most; Cory Rosenfelt; Marie-Pier Scott-Boyer; Geeske M van Woerden; Thomas Besnard; Jonas Johannes Papendorf; Maja Studencka-Turski; Tianyun Wang; Tzung-Chien Hsieh; Richard Golnik; Dustin Baldridge; Cara Forster; Charlotte de Konink; Selina M W Teurlings; Virginie Vignard; Richard H van Jaarsveld; Lesley Ades; Benjamin Cogné; Cyril Mignot; Wallid Deb; Marjolijn C J Jongmans; F Sessions Cole; Marie-José H van den Boogaard; Jennifer A Wambach; Daniel J Wegner; Sandra Yang; Vickie Hannig; Jennifer Ann Brault; Neda Zadeh; Bruce Bennetts; Boris Keren; Anne-Claire Gélineau; Zöe Powis; Meghan Towne; Kristine Bachman; Andrea Seeley; Anita E Beck; Jennifer Morrison; Rachel Westman; Kelly Averill; Theresa Brunet; Judith Haasters; Melissa T Carter; Matthew Osmond; Patricia G Wheeler; Francesca Forzano; Shehla Mohammed; Yannis Trakadis; Andrea Accogli; Rachel Harrison; Yiran Guo; Hakon Hakonarson; Sophie Rondeau; Geneviève Baujat; Giulia Barcia; René Günther Feichtinger; Johannes Adalbert Mayr; Martin Preisel; Frédéric Laumonnier; Tilmann Kallinich; Alexej Knaus; Bertrand Isidor; Peter Krawitz; Uwe Völker; Elke Hammer; Arnaud Droit; Evan E Eichler; Ype Elgersma; Peter W Hildebrand; François Bolduc; Elke Krüger; Stéphane Bézieau
Collaborators: APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics; Arnold Palmer Hospital; Berlin Institute of Health; Centre Hospitalier Régional Universitaire de Tours; Charité - Universitätsmedizin Berlin; Children's Hospital at Westmead; Children's Hospital of Eastern Ontario Research Institute; Children's Hospital of Orange County, CA (CHOC); Children's Hospital of Philadelphia; CHU Nantes, Service de Génétique Médicale, Nantes, France; Emma Children Hospital; Erasmus University Medical Center; Geisinger Medical Center; GeneDx; Genomic Medicine Institute Geisinger; Guy's and St Thomas' NHS Foundation Trust; Helmholtz Zentrum München; Institut für Medizinische Biochemie und Molekularbiologie (IMBM); Integriertes Sozialpädiatrisches Zentrum; Interfakultäres Institut für Genetik und Funktionelle Genomforschung; Leipzig University; Long School of Medicine-UT Health San Antonio; McGill University Health Center; Ministry of Education of China & National Health Commission of China; Necker-Enfants Malades Hospital; Nottingham University Hospitals NHS Trust; Peking University; Princess Maxima Center for Pediatric Oncology; Seattle Children's Research Institute; Sorbonne Universités, Paris, France; St. Luke's Clinic; Technical University of Munich; Université Laval; University Hospital Bonn; University Medical Center Utrecht; University of Alberta; University of Ottawa; University of Sydney; University of Washington; Vanderbilt University; Washington University School of Medicine, St. Louis Children’s Hospital; Wellcome Trust Sanger Institute