Research

Publications

  1. A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

    Corsten-Janssen, N., Bouman, K., Diphoorn, J. C. D., Scheper, A. J., Kinds, R., el Mecky, J., Breet, H., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sijmons, R. H., Sikkema-Raddatz, B., Westers, H. & van Diemen, C. C., 20-Jul-2020, In : Prenatal Diagnosis. 10 p.

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

  2. A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

    Corsten-Janssen, N., Bouman, K., Diphoorn, J. C. D., Scheper, A. J., Kinds, R., El Mecky, J., Breet, H., Verheij, J. B. G. M., Suijkerbuijk, R., Duin, L. K., Manten, G. T. R., van Langen, I. M., Sijmons, R. H., Sikkema-Raddatz, B., Westers, H. & van Diemen, C. C., 6-Jul-2020, In : Prenatal Diagnosis. 24 p.

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

  3. Implementing fast whole exome sequencing sequencing as diagnostic test for fetal multiple congenital anomalies on ultrasound

    Corsten-Janssen, N., el Mecky, J., Bouman, K., Vos, Y. J., Verheij, J. B. G. M., Westers, H., Kinds, R., Scheper, A. J., Sikkema-Raddatz, B., Sinke, R. J., van Langen, I. M., Sijmons, R. H. & van Diemen, C. C., Jul-2019, In : European Journal of Human Genetics. 27, p. 540-540 1 p.

    Research output: Contribution to journal › Meeting Abstract › Academic

  4. Clinical implementation of diagnostic whole exome sequencing for fetal multiple congenital anomalies on ultrasound

    Corsten-Janssen, N., Diphoorn, J. C. D., Bouman, K., El Mecky, J., Verheij, J. B. G. M., Kerstjens, W. S., Scheper, A., Kinds, R., van Langen, I. M., Sinke, R. J., Sijmons, R. H., Sikkema-Raddatz, B., Westers, H. & van Diemen, C. C., Oct-2019, In : European Journal of Human Genetics. 27, p. 1213-1213 1 p.

    Research output: Contribution to journal › Meeting Abstract › Academic

  5. Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

    Friederich, M. W., Timal, S., Powell, C. A., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., Bratkovic, D., Derks, T. G. J., Bick, D., Bouman, K., Chatfield, K. C., Damouny-Naoum, N., Dishop, M. K., Falik-Zaccai, T. C., Fares, F., Fedida, A., Ferrero, I., Gallagher, R. C., Garesse, R., Gilberti, M., Gonzalez, C., Gowan, K., Habib, C., Halligan, R. K., Kalfon, L., Knight, K., Lefeber, D., Mamblona, L., Mandel, H., Mory, A., Ottoson, J., Paperna, T., Pruijn, G. J. M., Rebelo-Guiomar, P. F., Saada, A., Sainz, B., Salvemini, H., Schoots, M. H., Smeitink, J. A., Szukszto, M. J., ter Horst, H. J., van den Brandt, F., van Spronsen, F. J., Veltman, J. A., Wartchow, E., Wintjes, L. T., Zohar, Y., Fernandez-Moreno, M. A., Baris, H. N. & Donnini, C., 3-Oct-2018, In : Nature Communications. 9, 1, 14 p., 4065.

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

View all (36) »

ID: 53862

University of Groningen staff: edit these data

print