Bart DE Koning

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

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 othersKarali, M., Kjellstrom, U., Koenekoop, R., de Koning, B., Leroy, B. P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K. M., Poulter, J. A., Rivolta, C., de la Rua, E. R., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A. A. H. J., Toomes, C., Tracewska, A. M., Tran, H. V., Ushida, H., Vaclavik, V., Verhoeven, V. J. M., van de Vorst, M., Gilissen, C., Hoischen, A., Cremers, F. P. M. & Roosing, S., 3 Feb 2023, In: Frontiers in Cell and Developmental Biology. 11, 10 p., 1112270.

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

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

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Almomani, R., Marchi, M., Sopacua, M., Lindsey, P., Salvi, E., Koning, B. D., Santoro, S., Magri, S., Smeets, H. J. M., Martinelli Boneschi, F., Malik, R. R., Ziegler, D., Hoeijmakers, J. G. J., Boenhof, G., Dib-Hajj, S., Waxman, S. G., Merkies, I. S. J., Lauria, G., Faber, C. G., Gerrits, M. M., & 1 othersPROPANE Study Grp, 2 Sept 2020, In: PLOS ONE. 15, 9, 15 p., 0238467.

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

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Deprez, R. H. L., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., & 3 othersLaros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec 2019, In: Human Mutation. 40, 12, p. 2230-2238 9 p.

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