Publications

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2021
Meng, L. et al. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol 89, 828-833 (2021).
Efthymiou, S. et al. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A (2021). doi:10.1002/ajmg.a.62221