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.
- 1 Similar Profiles
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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
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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 -
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C. & van Amstel, H. K. P. & 12 others, , Jun 2023, In: European Journal of Pediatrics. 182, 6, p. 2683-2692 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice
Sallevelt, S. C. E. H., Stegmann, A. P. A., de Koning, B., Velter, C., Steyls, A., van Esch, M., Lakeman, P., Yntema, H., Esteki, M. Z., de Die-Smulders, C. E. M., Gilissen, C., van den Wijngaard, A., Brunner, H. G. & Paulussen, A. D. C., Jun 2021, In: Genetics in Medicine. 23, 6, p. 1125-1136 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access