 | Up a level |
2020
Dworschak, G. C., Punetha, J., Kalanithy, J. C., Mingardo, E., Erdem, H. B., Akdemir, Z. C., Karaca, E., Mitani, T., Marafi, D., Fatih, J. M., Jhangiani, S. N., Hunter, J. V., Dakal, T., Dhabhai, B., Dabbagh, O., Alsaif, H. S., Alkuraya, F. S., Maroofian, R., Houlden, H., Efthymiou, S., Dominik, N., Salpietro, V., Sultan, T., Haider, S., Bibi, F., Thiele, H., Hoefele, J., Riedhammer, K. M., Wagner, M., Guella, I., Demos, M., Keren, B., Buratti, J., Charles, P., Nava, C., Valkanas, E., Waddell, L. B., Jones, K. J., Oates, E. C., Cooper, S. T., MacArthur, D., Schnur, R. E., Hoganson, G. E., Burton, J. E., McEntagart, M., Pehlivan, D., Posey, J. E., Lupski, J. R. and Reutter, H. (2020). Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomalies. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 130 - 132. LONDON: SPRINGERNATURE. ISSN 1476-5438
2017
Bolduc, V., Foley, A., Donkervoort, S., Hu, Y., Cummings, B., Lek, M., Sarathy, A., Sizov, K., Degefa, H., Wagener, R., Hennig, G., Hanssen, E., Lamande, S., Muntoni, F., Wilton, S., MacArthur, D. and Bonnemann, C. (2017). A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides. Neuromusc. Disord., 27. S. S177 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364