Reid, K. M., Spaull, R., Salian, S., Barwick, K., Meyer, E., Zhen, J., Hirata, H., Sheipouri, D., Benkerroum, H., Gorman, K. M., Papandreou, A., Simpson, M. A., Hirano, Y., Farabella, I., Topf, M., Grozeva, D., Carss, K., Smith, M., Pall, H., Lunt, P., De Gressi, S., Kamsteeg, E., Haack, T. B., Carr, L., Guerreiro, R., Bras, J., Maher, E. R., Scott, R. H., Vandenberg, R. J., Raymond, F. L., Chong, W. K., Sudhakar, S., Mankad, K., Reith, M. E., Campeau, P. M., Harvey, R. J., & Kurian, M. A. (2022). mED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement disorders, 37(10), 2139–2146. http://access.bl.uk/ark:/81055/vdc_100172222306.0x00002c