dr. W.S. (Mieke) Kerstjens

Telephone:
E-mail:
w.s.kerstjens umcg.nl
Research
Publications
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 journal › Article › Academic › peer-review
A homozygous variant in growth and differentiation factor 2(GDF2)may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis
Aukema, S. M., ten Brinke, G. A., Timens, W., Vos, Y. J., Accord, R. E., Kraft, K. E., Santing, M. J., Morssink, L. P., Streefland, E., van Diemen, C. C., Vrijlandt, E. J. L. E., Hulzebos, C. & Kerstjens-Frederikse, W. S., 2-Jul-2020, In : American Journal of Medical Genetics. Part A. 182, 9, p. 2152-2160 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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 journal › Article › Academic › peer-review
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. 22, 7, p. 1215-1226 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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 journal › Review article › Academic › peer-review
ID: 72779