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 journal › Article › Academic › peer-review

2. 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

3. 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

4. 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

5. 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

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