D.T. Roelofs-Prins

Y.SznajerYvesJr.Solve-RD consortium, Di Feo, M. F., Paramonov, I., Matalonga Borrel, L., Töpf, A., Hoischen, A., Beltran, S., Graessner, H., Vissers, L., de Voer, R., van Gijn, M., Balestrini, S., Lerche, H., Lesca, G., Gayathri, S. N., Ellwanger, K., Cossee, M., Perrin, A., Sarkozy, A. & Bonne, G., Verdonschot, J. A. J., Demidov, G., Laurie, S. & Johari, M., Jun-2026, In: Genetics in Medicine. 28, 6, 14 p., 101649.

Research output: Contribution to journal › Article › Academic › peer-review

SOLVE-RD Consortium, Johansson, L. F., Laurie, S., Spalding, D., Gibson, S., Ruvolo, D., Thomas, C., Piscia, D., de Andrade, F., Been, G., Bijlsma, M., Brunner, H., Cimerman, S., Dizjikan, F. Y., Ellwanger, K., Fernandez, M., Freeberg, M., van de Geijn, G.-J., Kanninga, R.& Maddi, V., Mehtarizadeh, M., Neerincx, P., Ossowski, S., Rath, A., Roelofs-Prins, D., Stok-Benjamins, M., van der Velde, K. J., Veal, C., van der Vries, G., Wadsley, M., Warren, G., Zurek, B., Keane, T., Graessner, H., Beltran, S., Swertz, M. A. & Brookes, A. J., 20-Sept-2024, In: Gigascience. 13, 14 p., giae058.

Research output: Contribution to journal › Article › Academic › peer-review

Solve-RD-DITF-RND, The Solve-RD Consortium, Schüle, R., Timmann, D., Erasmus, C. E., Reichbauer, J., Wayand, M., van de Warrenburg, B., Schöls, L., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H. & Synofzik, M., Sept-2021, In: European Journal of Human Genetics. 29, 9, p. 1462-1465 4 p.

Research output: Contribution to journal › Erratum

Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD-DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND, the Solve-RD Consortia, Matalonga, L., Hernández-Ferrer, C., Piscia, D., Schüle, R., Synofzik, M., Töpf, A., Vissers, L. E. L. M., de Voer, R. M., Tonda, R., Laurie, S., Fernandez-Callejo, M., Picó, D., Garcia-Linares, C. & Papakonstantinou, A., Corvó, A., Joshi, R., Diez, H., Gut, I., Hoischen, A., Graessner, H. & Beltran, S., Sept-2021, In: European Journal of Human Genetics. 29, 9, p. 1337-1347 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

Solve-RD-DITF-RND, The Solve-RD Consortium, Schüle, R., Timmann, D., van de Warrenburg, B., Schöls, L., Wilke, C., Bevot, A., Zuchner, S., Beltran, S., Laurie, S., Matalonga, L., Graessner, H. & Synofzik, M., 10-May-2021, In: European Journal of Human Genetics. 29, 9, p. 1332-1336 5 p.

Research output: Contribution to journal › Article › Academic › peer-review