1. 2022
  2. 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 journalArticleAcademicpeer-review

  3. 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 othersSantos-Simarro, F., Tørring, P. M., Denomme-Pichon, A-S., Isidor, B., Keren, B., Julia, S., Schaefer, E., Francannet, C., Maillard, P-Y., Misra-Isrie, M., Van Esch, H., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., Nov 2022

    Research output: Other contributionAcademic

  4. 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., Nov 2022, In: American journal of medical genetics. Part A. n/a, n/a

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Transgender Girls Grow Tall: Adult Height Is Unaffected by GnRH Analogue and Estradiol Treatment

    Boogers, L. S., Wiepjes, C. M., Klink, D. T., Hellinga, I., van Trotsenburg, A. S. P., den Heijer, M. & Hannema, S. E., 1 Sep 2022, In: Journal of clinical endocrinology and metabolism. 107, 9, p. e3805-e3815

    Research output: Contribution to journalArticleAcademicpeer-review

  6. Pediatric Graves' orbitopathy: a multicentre study

    Ionescu, I. C., van Trotsenburg, P. A. S., Paridaens, D., Tanck, M., Mooij, C. F., Cagienard, E., Kalmann, R., Pakdel, F., van der Meeren, S. & Saeed, P., Sep 2022, In: Acta ophthalmologica. 100, 6, p. e1340-e1348

    Research output: Contribution to journalArticleAcademicpeer-review

  7. An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation

    Hu, Y., Lauffer, P., Stewart, M., Codner, G., Mayerl, S., Heuer, H., Ng, L., Forrest, D., van Trotsenburg, P., Jongejan, A., Fliers, E., Hennekam, R. & Boelen, A., 25 Aug 2022, In: Human molecular genetics. 31, 17, p. 2951-2963 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  8. Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

    Garrelfs, M. R., Rinne, T., Hillebrand, J. J., Lauffer, P., Bijlsma, M. W., Claahsen-van der Grinten, H. L., de Leeuw, N., Finken, M. J. J., Rotteveel, J., Zwaveling-Soonawala, N., Nieuwdorp, M., van Trotsenburg, A. S. P. & Mooij, C. F., 18 Jul 2022, (E-pub ahead of print) In: Journal of clinical research in pediatric endocrinology.

    Research output: Contribution to journalArticleAcademicpeer-review

  9. Body mass index at diagnosis of a childhood brain tumor; a reflection of hypothalamic-pituitary dysfunction or lifestyle?

    van Roessel, I. M. A. A., van Schaik, J., Meeteren, A. Y. N. S., Boot, A. M., der Grinten, H. L. C., Clement, S. C., van Iersel, L., Han, K. S., van Trotsenburg, A. S. P., Vandertop, W. P., Kremer, L. C. M. & van Santen, H. M., Jul 2022, In: Supportive care in cancer. 30, 7, p. 6093-6102 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  10. The effect of pre-thyroidectomy calcitriol prophylaxis on post-thyroidectomy hypocalcaemia in children

    Vendrig, L. M., Mooij, C. F., Derikx, J. P. M., Fischer, J. C., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 20 Jun 2022, (E-pub ahead of print) In: Hormone research in paediatrics.

    Research output: Contribution to journalArticleAcademicpeer-review

  11. Correction to: Lebbink et al. Opposite Incidence Trends for Differentiated and Medullary Thyroid Cancer in Young Dutch Patients over a 30-Year Time Span. (Cancers 2021, 13, 5104)

    Lebbink, C. A., van den Broek, M. F. M., Kwast, A. B. G., Derikx, J. P. M., Dierselhuis, M. P., Kruijff, S., Links, T. P., van Trotsenburg, A. S. P., Valk, G. D., Vriens, M. R., Stuart, A. A. V., van Santen, H. M. & Karim-Kos, H. E., 1 Jun 2022, In: Cancers. 14, 12, 2929.

    Research output: Contribution to journalComment/Letter to the editorAcademic

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