Associated Papers
Neurodevelopmental disorder with dystonia due to SOX6 mutations.
Schneider SA et al.
Molecular Genetics & Genomic Medicine, 2022
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Select a paper to view details