drs. W.S. Kerstjens-Frederikse

Research

Publications
  1. 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: Scientific - peer-reviewArticle

  2. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

    El Chehadeh, S., Kerstjens-Frederikse, W. S., Thevenon, J., Kuentz, P., Bruel, A-L., Thauvin-Robinet, C., Bensignor, C., Dollfus, H. L., Laugel, V., Riviere, J-B., Duffourd, Y., Bonnet, C., Robert, M. P., Isaiko, R., Straub, M., Creuzot-Garcher, C., Calvas, P., Chassaing, N., Loeys, B., Reyniers, E., Vandeweyer, G., Kooy, F., Hancarova, M., Havlovicova, M., Prchalova, D., Sedlacek, Z., Gilissen, C., Pfundt, R., Wassink-Ruiter, J. S. K. & Faivre, L. Jan-2017 In : European Journal of Human Genetics. 25, 1, p. 43-51 9 p.

    Research output: Scientific - peer-reviewArticle

  3. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

    Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., Benedicenti, F., Donaldson, A., Andrieux, J., Stapleton, R., Weber, A., Reho, P., van Ravenswaaij-Arts, C., Kerstjens-Frederikse, W. S., Vermeesch, J. R., Devriendt, K., Bacino, C. A., Delahaye, A., Maas, S. M., Iolascon, A. & Zuffardi, O. Jun-2017 In : European Journal of Human Genetics. 25, 6, p. 694-701 8 p.

    Research output: Scientific - peer-reviewArticle

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