Publications
  1. Recurrent and founder mutations in the Netherlands: Mutation p.K217del in troponin T2, causing dilated cardiomyopathy

    Otten, E., Lekanne Dit Deprez, R. H., Weiss, M. M., van Slegtenhorst, M., Joosten, M., van der Smagt, J. J., de Jonge, N., Kerstjens-Frederikse, W. S., Roofthooft, M. T. R., Balk, A. H. M. M., van den Berg, M. P., Ruiter, J. S. & van Tintelen, J. P. 2010 In : Netherlands Heart Hournal. 18, 10, p. 478-485 8 p.

    Research output: Contribution to journalArticle

  2. More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

    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. Jun-2013 In : Molecular Syndromology. 4, 5, p. 235-245 11 p.

    Research output: Contribution to journalArticle

  3. Correction: Left ventricular outflow tract obstruction: Should cardiac screening be offered to first-degree relatives? (vol 97, pg 1228, 2011)

    Kerstjens-Frederikse, W. S., Du Marchie, S. G. J., Ruiter, J. S., van den Akker, P., Temmerman, A., van Melle, J. P., Hofstra, R. M. W. & Berger, R. M. F. Oct-2011 In : Heart. 97, 1 p., 1626

    Research output: Contribution to journalArticle

  4. Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives

    Verhagen, J. M. A., Kempers, M., Cozijnsen, L., Bouma, B. J., Duijnhouwer, A. L., Post, J. G., Hilhorst-Hofstee, Y., Bekkers, S. C. A. M., Kerstjens-Frederikse, W. S., van Brakel, T. J., Lambermon, E., Wessels, M. W., Loeys, B. L., Roos-Hesselink, J. W., van de Laar, I. M. B. H. & National Working Group on BAV & TAA 1-May-2018 In : International Journal of Cardiology. 258, p. 243-248 6 p.

    Research output: Contribution to journalArticle

  5. Rapid Targeted Genomics in Critically Ill Newborns

    van Diemen, C. C., Kerstjens-Frederikse, W. S., Bergman, K. A., de Koning, T. J., Sikkema-Raddatz, B., van der Velde, J. K., Abbott, K. M., Herkert, J. C., Löhner, K., Rump, P., Meems-Veldhuis, M. T., Neerincx, P. B. T., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M., Swertz, M. A., Sinke, R. J., van Langen, I. M. & Wijmenga, C. Oct-2017 In : Pediatrics. 140, 4, 11 p., 20162854

    Research output: Contribution to journalArticle

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