1. Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

   Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., Vos, Y. J., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M. A., Sinke, R., Sikkema-Raddatz, B., Kerstjens-Frederikse, W. S., Swertz, M. A. & Franke, L., 28-Jun-2019, In : Nature Communications. 10, 1, 13 p., 2837.

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

2. Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature

   Baars, H., Overwater, E., Baars, M., Mulder, B., Kerstjens-Frederikse, W., van Engelen, K. & Houweling, A., 2015, In : Cardiogenetics. 5, 1, p. 1-8 8 p., 4842.

   Research output: Contribution to journal › Review article › Academic › peer-review

3. 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 journal › Article › Academic › peer-review

4. 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 journal › Article › Academic › peer-review

5. 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 journal › Article › Academic › peer-review

View all (48) »