Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
Authors: Divya Nair; Dong Li; Hannah Erdogan; Andrew Yoon; Margaret H Harr; Gaber Bergant; Borut Peterlin; Maruša Škrjanec Pušenjak; Parul Jayakar; Rolph Pfundt; Sandra Jansen; Kirsty McWalter; Alpa Sidhu; Sheila Saliganan; Emanuele Agolini; Arthur Jacob; Jennifer Pasquier; Rafii Arash; Kimia Kahrizi; Hossein Najmabadi; Hans-Hilger Ropers; Elizabeth J Bhoj
Collaborators: Children's Hospital of Philadelphia; Donders Institute for Brain; Geisinger Health System; GeneDx; Genetics Research Center University of Social Welfare and Rehabilitation Sciences; Max Planck Institute for Molecular GeneticsIhnestr; Nicklaus Children's Hospital; University Medical Centre Ljubljana; University of Iowa; Weill Cornell