Research outputs

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., Bertoli-Avella, A., Bhatia, K. P., Chung, W. K., Efthymiou, S., Eyaid, W., Fowler, B., Ganieva, M., Garshasbi, M., Gleeson, J., Godwin, A., Guerrini, R., Guille, M., Hashemi, N., Hassanpour, K., Hempel, M., Herman, I., Houlden, H., Huang, K., Ibrohimov, S., Ilyas, M., Imdad, M., Isrofilov, M., Issa, A. H., Jamshidi, Y., Kaiyal, Q., Kaiyrzhanov, R., Kallemeijn, W. W., Karimiani, E. G., Khan, S., Kirmse, B., Kortüm, F., Koster, J., Lau, T., Lin, S., Lupski, J. R., Mahroum, M., Maroofian, R., Marques Lourenço, C., Mitani, T., Mohammadi, P., Moldovan, O., Monajemi, G. B., Murphy, D., Najafi, M., Normand, E. A., Pehlivan, D., Petree, C., Rad, A., Rocha, M. E., Rudnik-Schöneborn, S., Salpietro, V., Samie, S., Schatz, U. A., Schmidts, M., Schrader, M., Schrader, T. A., Severino, M., Shalata, A., Shotelersuk, V., Sultan, T., Suri, M., Talbeya, J. K., Tate, E. W., Tayfun, G. A., Taylor, R. W., Varshney, G. K., Vazquez, D., Vetro, A., Vona, B., Waterham, H. R., Yeetong, P., Zaki, M. S., Zaman, M.

1 Apr 2024, In: Brain. 147, 4, p. 1436–1456

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