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. WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

   Genome Netherlands Consortium, Nersisyan, L. & Nikoghosyan, M., 10-Dec-2019, In : Scientific Reports. 9, 9 p., 18758.

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

3. 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

4. Novel Rare Genetic Variants Associated with Airflow Obstruction in the General Population

   de Vries, M., van der Plaat, D. A., Nedeljkovic, I., van der Velde, K. J., Amin, N., van Duijn, C. M., Vonk, J. M., Boezen, H. M. & van Diemen, C. C., 15-Feb-2020, In : American Journal of Respiratory and Critical Care Medicine. 201, 4, p. 485-488 5 p.

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

5. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

   Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec-2019, In : Human Mutation. 40, 12, p. 2230-2238 9 p.

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

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