1. Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

   Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., Vos, Y. J., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M. A., Sinke, R., Sikkema-Raddatz, B., Kerstjens-Frederikse, W. S., Swertz, M. A. & Franke, L., 28-Jun-2019, In : Nature Communications. 10, 1, 13 p., 2837.

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

2. NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing

   Johansson, L. F., de Weerd, H. A., de Boer, E. N., van Dijk, F., Te Meerman, G. J., Sijmons, R. H., Sikkema-Raddatz, B. & Swertz, M. A., 17-Dec-2018, In : Bmc Bioinformatics. 19, 1, 5 p., 531.

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

3. Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification

   Alimohamed, M. Z., Johansson, L. F., de Boer, E. N., Splinter, E., Klous, P., Yilmaz, M., Bosga, A., van Min, M., Mulder, A. B., Vellenga, E., Sinke, R. J., Sijmons, R. H., van den Berg, E. & Sikkema-Raddatz, B., Jul-2018, In : Clinical Chemistry. 64, 7, p. 1096-1103 8 p.

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

4. Rapid Targeted Genomics in Critically Ill Newborns

   van Diemen, C. C., Kerstjens-Frederikse, W. S., Bergman, K. A., de Koning, T. J., Sikkema-Raddatz, B., van der Velde, J. K., Abbott, K. M., Herkert, J. C., Löhner, K., Rump, P., Meems-Veldhuis, M. T., Neerincx, P. B. T., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M., Swertz, M. A., Sinke, R. J., van Langen, I. M. & Wijmenga, C., Oct-2017, In : Pediatrics. 140, 4, 11 p., 20162854.

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

5. A Comprehensive Dna Test For The Detection Of Translocations In Acute Leukemia

   Van den Berg-De Ruiter, E., Alimohamed, M. Z., Johansson, L. F., de Boer, E. N., Splinter, E., Klous, P., Bosga, A. G., van Min, M., Mulder, A. B., Vellenga, E., Sinke, R. J., Sijmons, R. H. & Sikkema-Raddatz, B., 26-Jun-2017, In : Haematologica. 102, p. 368 1 p.

   Research output: Contribution to journal › Meeting Abstract › Academic

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1. From whole genome to diagnosis for critically ill newborns in 5 days

   Birgit Sikkema-Raddatz (Speaker)

   16-Apr-2015

   Activity: Talk or presentation › Academic

2. Next-generation diagnostics.

   Birgit Sikkema-Raddatz (Speaker)

   14-May-2014

   Activity: Talk or presentation › Academic

3. Rapid screening of severely ill newborns and infants using whole genome sequencing;

   Birgit Sikkema-Raddatz (Speaker)

   7-Apr-2016

   Activity: Talk or presentation › Academic

View all (7) »