dr. N. Corsten-Janssen

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E-mail:
n.corsten umcg.nl

Research

  1. 2020
  2. Deden, C., Neveling, K., Zafeiropopoulou, D., Gilissen, C., Pfundt, R., Rinne, T., de Leeuw, N., Faas, B., Gardeitchik, T., Sallevelt, S. C. E. H., Paulussen, A., Stevens, S. J. C., Sikkel, E., Elting, M. W., van Maarle, M. C., Diderich, K. E. M., Corsten-Janssen, N., Lichtenbelt, K. D., Lachmeijer, G., ... van Zelst-Stams, W. A. G. (2020). Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging. Prenatal Diagnosis, 40(8), 972-983. https://doi.org/10.1002/pd.5717
  3. 2019
  4. 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., ... Muenke, M. (2019). Cohesin complex-associated holoprosencephaly. Brain, 142, 2631-2643. https://doi.org/10.1093/brain/awz210
  5. 2018
  6. 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. (2018). Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants. Human Mutation, 39(12), 1875-1884. https://doi.org/10.1002/humu.23627
  7. Bloemsma, L. D., Gehring, U., Klompmaker, J. O., Hoek, G., Janssen, N. A. H., Smit, H. A., Vonk, J. M., Brunekreef, B., Lebret, E., & Wijga, A. H. (2018). Green Space Visits among Adolescents: Frequency and Predictors in the PIAMA Birth Cohort Study. Environmental Health Perspectives, 126(4), [047016]. https://doi.org/10.1289/EHP2429
  8. 2017
  9. Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M. T., Rosenfeld, J. A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., ... Deciphering Developmental Disorders Study (2017). High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics, 101(5), 664-685. https://doi.org/10.1016/j.ajhg.2017.09.008
  10. 2016
  11. 2015
  12. Janssen, N., & Arts, C. (2015). CHARGE Syndrome. In M. Muenke, P. S. Kruszka, C. A. Sable, & J. W. Belmont (Eds.), Congenital Heart Disease: Molecular Genetics, Principles of Diagnosis and Treatment (pp. 145-154). KARGER. https://doi.org/10.1159/000375212
  13. 2014
  14. 2013
  15. Corsten-Janssen, N., Saitta, S. C., Hoefsloot, L. H., McDonald-McGinn, D. M., Driscoll, D. A., Derks, R., Dickinson, K. A., Kerstjens-Frederikse, W. S., Emanuel, B. S., Zackai, E. H., & van Ravenswaaij-Arts, C. M. A. (2013). More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. Molecular Syndromology, 4(5), 235-245. https://doi.org/10.1159/000351127

ID: 12596295