1. 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., 2-Jun-2020, In : The Journal of Pediatrics. 44 p.

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

2. 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., 2020, In : Genetics in Medicine. 12 p.

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

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

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

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

4. A clinical utility study of diagnosing genetic disorders in newborns admitted to the Neonatal Intensive Care Unit

   RADICON-NL, Oct-2019, In : European Journal of Human Genetics. 27, p. 1522-1523 2 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

5. Rapid whole exome sequencing in critically ill children

   Kerstjens-Frederikse, W. S., van der Hout, A. H., Vos, Y. J., Dijkhuizen, T., Verheij, J. B. G. M., van Langen, I. M., Sikkema-Raddatz, B., de Groot, M. J., Drok, H. H. J., Kinds, R., Beunders, G., Zonneveld-Huijssoon, E., Herkert, J. C., Vansenne, F., Wassink-Ruiter, J. S. K., Gerkes, E., van der Velde, K. J., Swertz, M. A., Sinke, R. J. & van Diemen, C. C., Jul-2019, In : European Journal of Human Genetics. 27, p. 508-509 2 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

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