Specialization
Pediatric Endocrinology
Rare disorders
Protein modeling
Focus of research
Multi-omics of congenital hypothyroidism
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Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships
Lauffer, P., Pals, G., Zwinderman, A. H., Postema, F. A. M., Baars, M. J. H., Dulfer, E., Hilhorst-Hofstee, Y., Houweling, A. C., Kempers, M., Krapels, I. P. C., van de Laar, I. M. B. H., Loeys, B., Spaans, A. M. J., Warnink-Kavelaars, J., de Waard, V., Wit, J. M. & Menke, L. A., Feb 2023, In: American Journal of Medical Genetics. Part A. 191, 2, p. 479-489 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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Meta-analysis of DNA methylation datasets shows aberrant DNA methylation of thyroid development or function genes in Down syndrome
Lauffer, P., Zwaveling-Soonawala, N., Li, S., Bacalini, M. G., Naumova, O. Y., Wiemels, J., Boelen, A., Henneman, P., de Smith, A. J. & van Trotsenburg, A. S. P., 3 Nov 2022, (E-pub ahead of print) In: Thyroid.Research output: Contribution to journal › Article › Academic › peer-review
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Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome: International Journal of Molecular Sciences
van der Laan, L., Rooney, K., Alders, M., Relator, R., McConkey, H., Kerkhof, J., Levy, M. A., Lauffer, P., Aerden, M., Theunis, M., Legius, E., Tedder, M. L., Vissers, L. E. L. M., Koene, S., Ruivenkamp, C., Hoffer, M. J. V., Wieczorek, D., Bramswig, N. C., Herget, T., González, V. L., & 15 others, Nov 2022Research output: Other contribution › Academic
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