dr. W.S. (Mieke) Kerstjens

dr. W.S. (Mieke) Kerstjens
E-mail:
w.s.kerstjens umcg.nl

Research

Publications
  1. CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

    Li, S., van der Velde, K. J., de Ridder, D., van Dijk, A. D. J., Soudis, D., Zwerwer, L. R., Deelen, P., Hendriksen, D., Charbon, B., van Gijn, M. E., Abbott, K., Sikkema-Raddatz, B., van Diemen, C. C., Kerstjens-Frederikse, W. S., Sinke, R. J. & Swertz, M. A., 24-Aug-2020, In : Genome medicine. 12, 1, p. 75 11 p., 75.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension

    Haarman, M. G., Kerstjens-Frederikse, W. S., Vissia-Kazemier, T. R., Breeman, K. T. N., Timens, W., Vos, Y. J., Roofthooft, M. T. R., Hillege, H. L. & Berger, R. M. F., Oct-2020, In : The Journal of Pediatrics. 225, p. 65-+ 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Undiagnosed Diseases Network, Care4Rare Canada Consortium, Castilla-Vallmanya, L., Selmer, K. K., Dimartino, C., Rabionet, R., Blanco-Sánchez, B., Yang, S., Reijnders, M. R. F., van Essen, A. J., Oufadem, M., Vigeland, M. D., Stadheim, B., Houge, G., Cox, H., Kingston, H., Clayton-Smith, J., Innis, J. W., Iascone, M., Cereda, A., Gabbiadini, S., Chung, W. K., Sanders, V., Charrow, J., Bryant, E., Millichap, J., Vitobello, A., Thauvin, C., Mau-Them, F. T., Faivre, L., Lesca, G., Labalme, A., Rougeot, C., Chatron, N., Sanlaville, D., Christensen, K. M., Kirby, A., Lewandowski, R., Gannaway, R., Aly, M., Lehman, A., Clarke, L., Graul-Neumann, L., Zweier, C., Lessel, D., Lozic, B., Aukrust, I., Peretz, R., Stratton, R., Smol, T., Dieux-Coëslier, A., Meira, J., Wohler, E., Sobreira, N. L., Beaver, E. M., Heeley, J. M., Briere, L. C., High, F. A., Sweetser, D. A., Walker, M. A., Keegan, C. E., Jayaker, P., Shinawi, M., Kerstjens, M., Earl, D. L., Siu, V. M., Reesor, E., Yao, T., Hegele, R. A., Vaske, O. M., Rego, S., Shapiro, K. A., Wong, B., Gambello, M. J., McDonald, M. T., Karlowicz, D., Colombo, R., Serretti, A., Pais, L., O’Donnell-Luria, A., Wray, A., Sadedin, S., Chong, B., Tan, T. Y., Christodoulou, J., White, S. M., Slavotinek, A., Barbouth, D., Morel Swols, D., Parisot, M., Bole-Feysot, C., Nitschke, P., Pingault, V., Munnich, A., Cho, M. T., Cormier-Daire, V., Balcells, S., Lyonnet, S., Grinberg, D., Amiel, J., Urreizti, R. & Gordon, C. T., 7-May-2020, In : Genetics in Medicine. p. 1215-1226 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. TBX4 variants and pulmonary diseases: getting out of the 'Box'

    Haarman, M. G., Kerstjens-Frederikse, W. S. & Berger, R. M. F., May-2020, In : Current Opinion in Pulmonary Medicine. 26, 3, p. 277-284 8 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

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