1. 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

2. Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

   FREX Consortium, GoNL Consortium, Kim, A., Savary, C., Dubourg, C., Carre, W., Mouden, C., Guyodo, H., Le Douce, J., Pasquier, L., Flori, E., Gonzales, M., Beneteau, C., Boute, O., Attie-Bitach, T., Roume, J., Goujon, L., Akloul, L., Odent, S., Watrin, E., Dupe, V., de Tayrac, M. & David, V., Jan-2019, In : Brain. 142, 1, p. 35-49 15 p.

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

3. Skewed X-inactivation is common in the general female population

   BIOS Consortium & GoNL Consortium, Mar-2019, In : European Journal of Human Genetics. 27, 3, p. 455-465 11 p.

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

4. Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

   Goldmann, J. M., Seplyarskiy, V. B., Wong, W. S. W., Vilboux, T., Neerincx, P. B., Bodian, D. L., Solomon, B. D., Veltman, J. A., Deeken, J. F., Gilissen, C. & Niederhuber, J. E., Apr-2018, In : Nature Genetics. 50, 4, p. 487-492 10 p.

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

5. joerivandervelde/molgenis: MOLGENIS v1.21.2G1

   Hendriksen, D., Haan, M. D., Charbon, B., Pang, C., [Unknown], J., Kelpin, F., boer, T. D., Kanninga, R., van der Velde, K. J., Mecher, E., Swertz, M., Byelas, G., Miedema, B., Oil, C., Antonakaki, D., Dopheide, P., van Dijk, F., [Unknown], A., Burger, M., Bijlsma, M., Deelen, P., Klein, N. D., Dijkstra, M., Karis, M., Enckevort, D. V., van der Vries, G., Timmermans, J., Segers, L., format, LSDB. D. E. & Neerincx, P., 1-Sep-2016

   Research output: Non-textual form › Software › Academic

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