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 journal › Article › Academic › peer-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 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. 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 journal › Article › Academic › peer-review

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