Research outputs
2024
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
Agolini, E., Arnadottir, G. A., Baralle, D., Bermudez, M., Bjornsson, H. T., Bourgeois, C. F., Bruel, A., Carelli, V., Ciaccio, C., Clerc, V., Courchet, J., Di Donato, N., D’Arrigo, S., Ennis, S., Fischer, J.,
15 Oct 2024, In: Brain
Modelling human genetic disorders in Xenopus tropicalis
Ennis, S., Godwin, A., Grainger, R. M., Guille, M., Seaby, E. G., Willsey, H. R.
4 Jun 2024, In: Disease Models & Mechanisms. 17, 5, p. 1-12, 12p.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Aanicai, R., Abdul-Majeed, B. A., Ahmed, H., Al saman, A., Alswaid, A., Alvi, J. R., Amiri, N., Asilova, N., Azam, M., Babaei, M., Baggelaar, M. P., Banu, S. H., Basto, J. P., Bauer, M., Bauer, P., Beetz, C.,
1 Apr 2024, In: Brain. 147, 4, p. 1436–1456