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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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., Herkert, J. C., Hochstenbach, R., Hopman, S., 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 AccessFile1 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 AccessFile -
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A. & Louie, R. J. & 15 others, , May 2024, In: Genetics in Medicine. 26, 5, 101075.Research output: Contribution to journal › Article › Academic › peer-review
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Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey
van der Smagt, J. J., Lampri, A. P., de Lange, I., Alders, M., Houben, M. L., Koudijs, M. J. & van Jaarsveld, R. H., Jun 2024, In: European Journal of Medical Genetics. 69, 4 p., 104949.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
D’Incal, C. P., Annear, D. J., Elinck, E., van der Smagt, J. J., Alders, M., Dingemans, A. J. M., Mateiu, L., de Vries, B. B. A., Vanden Berghe, W. & Kooy, R. F., Jun 2024, In: European Journal of Human Genetics. 32, 6, p. 630-638 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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Genetische Counseling bij familiaire longfibrose
Jasper van der Smagt (Speaker)
2 Jun 2017Activity: Talk or presentation › Invited talk › Academic
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Genetische counseling bij familiaire interstitiële longfibrose
Jasper van der Smagt (Speaker)
2 Jun 2017Activity: Talk or presentation › Oral presentation › Academic
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ashg 2016
Jasper van der Smagt (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
Jasper van der Smagt (Speaker)
21 Mar 2016Activity: Talk or presentation › Oral presentation › Academic
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Genetica, wat hebben we ook al weer geleerd
Jasper van der Smagt (Speaker)
21 Nov 2014Activity: Talk or presentation › Oral presentation › Academic