Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Cancer risk in patients with pulmonary fibrosis and a rare telomere related gene variant
van der Vis, J. J., Maus, M. T. K., de Bie, C. I., van der Smagt, J. J., Daenen, L. G. M., van Oosterhout, M. F. M., Grutters, J. C. & van Moorsel, C. H. M., 12 Feb 2026, In: Respiratory research. 27, 1, 61.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure) -
mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome
Rao, D., van den Berge, B. T., Vulto-van Silfhout, A. T., Rood, I. M., van Wijk, J. A. E., Bökenkamp, A., Damen, L., Rump, P., van der Smagt, J. J., Jansen, J., Smeets, B., Wetzels, J. F., Maas, R. J. & van Geel, M., Jul 2026, In: Kidney International Reports . 11, 7, 106553.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature
van der Laan, L., Kleinendorst, L., Haagmans, M. A., Roquas, L., van der Smagt, J. J., Koop, K., Henneman, P. & van Haelst, M. M., Jun 2025, In: European Journal of Medical Genetics. 75, 7 p., 105013.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Hopman, S., Herkert, J. C., Hochstenbach, R., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, , 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile14 Downloads (Pure) -
Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants
van Gisbergen, M. W., Rossel, S. V. J., Theunissen, T. E. J., Janssen, R., Kaseke, T., van der Smagt, J. J., Steijlen, P. M., Vreeburg, M., Gostynski, A. H. & van Geel, M., Mar 2025, In: British Journal of Dermatology. 192, 3, p. 544-546 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile10 Downloads (Pure)
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Genetische Counseling bij familiaire longfibrose
van der Smagt, J. (Speaker)
2 Jun 2017Activity: Talk or presentation › Invited talk › Academic
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Genetische counseling bij familiaire interstitiële longfibrose
van der Smagt, J. (Speaker)
2 Jun 2017Activity: Talk or presentation › Oral presentation › Academic
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ashg 2016
van der Smagt, J. (Participant)
Oct 2016Activity: Participating in or organising an event › Participation in conference › Academic
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Congenital heart disease at the crossroads of genetics, epigenetics and environment
van der Smagt, J. (Speaker)
21 Mar 2016Activity: Talk or presentation › Oral presentation › Academic
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Genetica, wat hebben we ook al weer geleerd
van der Smagt, J. (Speaker)
21 Nov 2014Activity: Talk or presentation › Oral presentation › Academic