Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

Solve-RD SNV-indel working group, Solve-RD-DITF-ITHACA, de Boer, E., Ockeloen, C. W., Matalonga, L., Horvath, R., Rodenburg, R. J., Coenen, M. J. H., Janssen, M., Henssen, D., Gilissen, C., Steyaert, W., Paramonov, I., Trimouille, A., Kleefstra, T., Verloes, A. & Vissers, L. E. L. M., Sep-2021, In: European Journal of Human Genetics. 29, 9, p. 1470-1471 2 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

BIOS Consortium, i2QTL Consortium, Võsa, U., Claringbould, A., Westra, H-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., Brugge, H., Oelen, R., de Vries, D. H., van der Wijst, M. G. P., Kasela, S., Pervjakova, N., Alves, I., Fave, M-J. & 32 others, Agbessi, M., Christiansen, M. W., Jansen, R., Seppala, I., Tong, L., Teumer, A., Schramm, K., Hemani, G., Verlouw, J., Yaghootkar, H., Flitman, R. S., Brown, A., Kukushkina, V., Kalnapenkis, A., Rueger, S., Porcu, E., Kronberg, J., Kettunen, J., Lee, B., Zhang, F., Qi, T., Hernandez, J. A., Arindrarto, W., Beutner, F., Dmitrieva, J., Li, S., Penninx, B. W. J. H., Veldink, J. H., Warmerdam, R., Wijmenga, C., Swertz, M. & Franke, L., Sep-2021, In: Nature Genetics. 53, 9, p. 1300-1310 11 p.

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

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, Corvó, A., Joshi, R., Diez, H., Gut, I., Hoischen, A., Graessner, H. & Beltran, S., Sep-2021, In: European Journal of Human Genetics. 29, 9, p. 1337-1347 11 p.

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

An epigenome-wide association study identifies multiple DNA methylation markers of exposure to endocrine disruptors

BIOS Consortium, Lu, X., Fraszczyk, E., van der Meer, T. P., van Faassen, M., Bloks, V. W., Kema, I. P., van Beek, A. P., Li, S., Franke, L., Westra, H-J., Xu, X., Huo, X., Snieder, H., Wolffenbuttel, B. H. R. & van Vliet-Ostaptchouk, J. V., Nov-2020, In: Environment international. 144, 8 p., 106016.

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

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Li, S., van der Velde, K. J., de Ridder, D., van Dijk, A. D. J., Soudis, D., Zwerwer, L. R., Deelen, P., Hendriksen, D., Charbon, B., van Gijn, M. E., Abbott, K., Sikkema-Raddatz, B., van Diemen, C. C., Kerstjens-Frederikse, W. S., Sinke, R. J. & Swertz, M. A., 24-Aug-2020, In: Genome medicine. 12, 1, p. 75 11 p., 75.

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