Research output per year
Research output per year
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Dive into the research topics where Bart DE Koning is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing
Kamps, R., Martens, H., de Koning, B., Smeets, B. & van Geel, M., 1 Jun 2025, In: Molecular genetics & genomic medicine. 13, 6, 8 p., 70108.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, A. E. J., Koeck, R. M., Essers, R., Cao, P., van Dijk, W., Drüsedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., de Koning, B., Hellebrekers, D. M. E. I., Stevens, S. J. C., Sun, S. M., Heijligers, M., de Munnik, S. A., van Uum, C. M. J., Achten, J., Hamers, L., Naghdi, M. & Vissers, L. E. L. M. & 9 others, , 1 Dec 2024, In: Nature Communications. 15, 1, 15 p., 7164.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, A. E. J., Koeck, R. M., Essers, R., van Dijk, W., Drusedau, M., Meekels, J., Yaldiz, B., van de Vorst, M., Cao, P., de Koning, B., Hellebrekers, D. M. E. I., Stevens, S. J. C., Sun, S. M., Heijligers, M., de Munnik, S. A., van Uum, C. M. J., Achten, J., Hamers, L., Naghdi, M. & Vissers, L. E. L. M. & 9 others, , 8 Dec 2023, 32 p.Research output: Working paper / Preprint › Preprint
Open Access -
Clustering of Cardiac Transcriptome Profiles Reveals Unique Subgroups of Dilated Cardiomyopathy Patients
Verdonschot, J. A. J., Wang, P., Derks, K. W. J., Adriaens, M. E., Stroeks, S. L. V. M., Henkens, M. T. H. M., Raafs, A. G., Sikking, M., de Koning, B., van den Wijngaard, A., Krapels, I. P. C., Nabben, M., Brunner, H. G. & Heymans, S. R. B., 1 Apr 2023, In: JACC: Basic to Translational Science. 8, 4, p. 406-418 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Panneman, D. M., Hitti-Malin, R. J., Holtes, L. K., de Bruijn, S. E., Reurink, J., Boonen, E. G. M., Khan, M. I., Ali, M., Andreasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M., de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T. & Inglehearn, C. F. & 28 others, , 3 Feb 2023, In: Frontiers in Cell and Developmental Biology. 11, 1, 10 p., 1112270.Research output: Contribution to journal › Article › Academic › peer-review
Open Access