Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Authors: Bobby G Ng; Erik A Eklund; Jill A Rosenfeld; Abdallah F Elias; Aya Abu-El-Haija; Celine Bris; Magalie Barth; Jong-Hee Chae; Murim Choi; Holly A Dubbs; Carl Fratter; Nicola Foulds; Ralitza H Gavrilova; Candace Gamble; Jaclyn Haven; Trevor L Hoffman; Jill V Hunter; Austin Larson; Timothy Edward Lotze; Pilar Magoulas; Emily C Magness; Debra M Bootin; Eric D Marsh; Victoria Nesbitt; Matthew T Pastore; Joanna Poulton; Shamima Rahman; Fernando Scaglia; Chaya Murali; Jennifer Posey; Joshua Rotenberg; Betsy Schmalz; Deepali N Shinde; Zöe Powis; Rivka Sukenik-Halevy; Kristen V Truxal; Tami Uster; Matheus Vernet Machado Bressan Wilke; Erik Klee; Hyewon Woo; Donald Younkin; Jianhua Zhao; Jorge Granadillo; Seema Lalani; David Chitayat; Wendy K Chung; Hudson H Freeze; Volkan Okur
Collaborators: Baylor College of Medicine; Boston Children's Hospital; Children's Hospital of Philadelphia; CHU d'Angers; Chungbuk National University Hospital; Cook Children's Medical Center; Great Ormond Street Hospital for Children NHS Foundation Trust; Harvard Medical School; Houston Specialty Clinic; Joint BCM-CHUK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong SAR; Lund University; Mayo Clinic; Meir Medical Center; Nationwide Children's Hospital; New York Genome Center; Quest Diagnostics; Sanford Burnham Prebys Medical Discovery Institute; Seoul National University College of Medicine; Shodair Children's Hospital; Southern California Kaiser Permanente Medical Group; Tel Aviv University; Texas Children's Hospital; The Hospital for Sick Children, The University of Toronto; University Hospital Southampton NHS Foundation Trust; University of Colorado School of Medicine; University of Oxford; Washington University School of Medicine, St. Louis Children’s Hospital