dr. N. Corsten-Janssen

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E-mail:
n.corsten umcg.nl

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. 24 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Cohesin complex-associated holoprosencephaly

    Kruszka, P., Berger, S., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R., Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., Zonneveld-Huijssoon, E., Stephan, M. J., Hogue, J., Hu, P., Tanima-Nagai, M., Everson, J. L., Prasad, C., Cereda, A., Iascone, M., Schreiber, A., Zurcher, V., Corsten-Janssen, N., Escobar, L., Clegg, N. J., Delgado, M. R., Hajirnis, O., Balasubramanian, M., Kayserili, H., Deardorff, M., Poot, R. A., Wendt, K. S., Lipinski, R. J. & Muenke, M., Sep-2019, In : Brain. 142, p. 2631-2643 13 p.

    Research output: Contribution to journalArticleAcademicpeer-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 journalMeeting AbstractAcademic

  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 journalMeeting AbstractAcademic

  5. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

    Granadillo, J. L., Chung, W. K., Hecht, L., Corsten-Janssen, N., Wegner, D., Bijvank, S. W. A. N., Toler, T. L., Pineda-Alvarez, D. E., Douglas, G., Murphy, J. J., Shimony, J. & Shinawi, M., Dec-2018, In : Human Mutation. 39, 12, p. 1875-1884 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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ID: 12596295