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Collaborations and top research areas from the last five years
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An interconnected data infrastructure to support large-scale rare disease research
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, , 20-Sept-2024, In: Gigascience. 13, 14 p., giae058.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Citations (Scopus)113 Downloads (Pure) -
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)
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
Open AccessFile96 Downloads (Pure) -
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
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, , Sept-2021, In: European Journal of Human Genetics. 29, 9, p. 1337-1347 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile59 Citations (Scopus)172 Downloads (Pure) -
Solving unsolved rare neurological diseases: a Solve-RD viewpoint
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
Open AccessFile12 Citations (Scopus)86 Downloads (Pure)
Activities
- 1 Academic presentation
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BioSB 2020
Johansson, L. (Speaker), Vries, van der, G. (Contributor), Neerincx, P. (Contributor), Andrade, de, F. (Contributor), Roelofs-Prins, D. (Contributor), Kanninga, R. (Contributor), Bijlsma, M. (Contributor), Velde, van der, J. (Contributor), Hendriksen, D. (Contributor), Rijpkema, E. (Contributor), Nap, W. (Contributor), Zilverberg, H.-J. (Contributor), Dijkstra, F. (Contributor), Uitterdijk, J. J. (Contributor), Geijn, van de, G.-J. (Contributor), Laurie, S. (Contributor), Piscia, D. (Contributor), Kerry, G. (Contributor), Mohan, A. (Contributor), Spalding, D. (Contributor), Beltran, S. (Contributor), Brookes, A. (Contributor) & Swertz, M. (Contributor)
27-Oct-2020 → 28-Oct-2020Activity: Talk and presentation › Academic presentation › Academic
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