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.& 17 others, 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. 1462-14654 p.
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.& 7 others, 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.
1337-134711 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. 1332-13365 p.
Research output:Contribution to journal ›Article› Academic› peer-review
