Characterization of the genetic and phenotypic spectrum of a novel neurodevelopmental syndrome, TCF7L2-related neurodevelopmental disorder (TRND)
Title: Characterization of the genetic and phenotypic spectrum of a novel neurodevelopmental syndrome, TCF7L2-related neurodevelopmental disorder (TRND)
Authors: Sally Nijim; Mimi Kim; Melissa Denish; Michael V. Gonzalez; Joseph Zinski; Claudine Rieubland; Dominique Braun; Elsebet Ostergaard; Amelle Shillington; Laurence Olivier-Faivre; Aurore Garde; Julien Maraval; Christophe Philippe; Fréderic Tran Mau-Them; Amy Crunk; Megan Hawley; Bert Callewaert; Maria Iascone; Anna Cereda; Cecilia Daolio; Tova Hershkovitz; JeanMarc Good; Katharina Steindl; Tanja Frey; Anita Rauch; Alexandra Afenjar; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nicolette den Hollander; Yvonne Hilhorst-Hofstee; Saskia Koene; Emilia Bjilsma; Gijs Santen; Sara Berger; Lakshmi Mehta; Radka Stoeva; Clara Houdayer; Paul Gueguen; Helene Faust; Sabine Specht; Annick Klabunde-Cherwon; Melik Malek Khelifa; Anke Bergman; Carol Saunders; Magdalena Krygier; Diana Carrasco; Kay Metcalfe; Stephan Sanders; David Y. Zhang; Renae Judy; Jozef Gecz; Corrado Romano; Cindy Skinner; Angie Lichty; Ellen Linebaugh; Steven A. Skinner; Maria Chahrour; Tianyun Wang; Kun Xia; Hui Guo; Sien Van Daele; Gert Van Goethem; Christina Fagerberg; Jesper Graakjaer; Susanne Anders; Heike Fink; Isum Ward; Dorothy K. Grange; Alanna Strong; Petra Zwijnenburg; Meghan Towne; Johannes A. Mayr; Jennifer Morrison; Aditi Dagli; Jonathan Levy; Yline Capri; Rebecca C. Spillman; Sarah Hart; Vandana Shashi; Boris Keren; Tjitske Kleefstra; Rolph Pfundt; Christian Gilissen; Evan E. Eichler; Melanie Brugger; Michael Zech; Wendy Chung; Maria Fasolino; Eric D. Marsh; Caroline Dias; David Fajgenbaum
Collaborators: Arnold Palmer Hospital; Centre de Référence Déficiences Intellectuelles de Causes Rares; Children's Hospital of Philadelphia; Children's Mercy Research Institute; CHU Dijon Bourgogne; Cincinnati Children’s Hospital Medical Center; Columbia University; Cook Children's Hospital; Copenhagen University Hospital; Duke University School of Medicine; GeneDx; Ghent University Hospital; Hannover Medical School; Heidelberg University Hospital; Leiden University Medical Center; Leipzig University; Perelman School of Medicine at the University of Pennsylvania; Robert Debré Hospital, APHP, Paris, France; Service de Génétique Médicale, Centre hospitalier, Le Mans; Sorbonne Universités, Paris, France; Thomas Jefferson University; University of California, Irvine; University of Colorado School of Medicine; University of Lausanne; University of Manchester; University of Munich; University of Oxford; University of Pennsylvania; Women's Health and Genetics, Labcorp