20062020
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Research Output 2006 2020

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Letter
2017

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Lardelli, R. M., Schaffer, A. E., Eggens, V. R. C., Zaki, M. S., Grainger, S., Sathe, S., Van Nostrand, E. L., Schlachetzki, Z., Rosti, B., Akizu, N., Scott, E., Silhavy, J. L., Heckman, L. D., Rosti, R. O., Dikoglu, E., Gregor, A., Guemez-Gamboa, A., Musaev, D., Mande, R., Widjaja, A. & 39 others, Shaw, T. L., Markmiller, S., Marin-Valencia, I., Davies, J. H., De Meirleir, L., Kayserili, H., Altunoglu, U., Freckmann, M. L., Warwick, L., Chitayat, D., Blaser, S., Ça Layan, A. O., Bilguvar, K., Per, H., Fagerberg, C., Christesen, H. B. T., Kibæk, M., Aldinger, K. A., Manchester, D., Matsumoto, N., Muramatsu, K., Saitsu, H., Shiina, M., Ogata, K., Foulds, N., Dobyns, W. B., Chi, N. C., Traver, D., Spaccini, L., Bova, S. M., Gabriel, S. B., Gunel, M., Valente, E. M., Nassogne, M. C., Bennett, E. J., Yeo, G. W., Baas, F., Lykke-Andersen, J. & Gleeson, J. G., Mar 2017, In : Nature Genetics. 49, 3, p. 457-464

Research output: Contribution to journalLetterResearchpeer-review

spleen exonuclease
Mutation
Eosinophil Cationic Protein
Disorders of Sex Development
Zebrafish
2015

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibæk, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., Striano, P., Zara, F., Kleiss, R., Simpson, M., Muhle, H., Nikanorova, M., Jepsen, B., Tommerup, N. & 8 others, Stephani, U., Guerrini, R., Duno, M., Hjalgrim, H., Pal, D., Helbig, I., Møller, R. S. & MAE working group of the EuroEPINOMICS RES Consortium, Dec 2015, In : Epilepsia. 56, 12, p. e203-8

Research output: Contribution to journalLetterResearchpeer-review

Absence Epilepsy
Mutation
Movement Disorders
Mutation Rate
Population