Research outputs
2025
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.,
6 Feb 2025, In: Brain, 14p.
2024
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