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  1. 2023

  2. Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

    Krzyzewska, I. M., Lauffer, P., Mul, A. N., van der Laan, L., Yim, A. Y. F. L., Cobben, J. M., Niklinski, J., Chomczyk, M. A., Smigiel, R., Mannens, M. M. A. M. & Henneman, P., 1 Apr 2023, In: International journal of molecular sciences. 24, 7, 6601.

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

  3. Further delineation of central congenital hypothyroidism due to variants in TBL1X and IRS4

    Lauffer, P., Naafs, J. C., Bikker, H., Garrelfs, M. R., Mooij, C. F., Boelen, A., Zwaveling-Soonawala, N. & van Trotsenburg, A. S., 1 Mar 2023, (E-pub ahead of print) In: Thyroid.

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

  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., 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

  5. 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., 1 Jan 2023, In: Thyroid. 33, 1, p. 53-62 10 p.

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

  6. 2022

  7. 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 contribution › Academic

  8. 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 journal › Article › Academic › peer-review

  9. 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 journal › Article › Academic › peer-review

  10. Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature

    Lauffer, P., Boudin, E., van der Kaay, D. C. M., Koene, S., van Haeringen, A., van Tellingen, V., van Hul, W., Prickett, T. C. R., Mortier, G., Espiner, E. A. & van Duyvenvoorde, H. A., 1 Apr 2022, In: Journal of the Endocrine Society. 6, 4, bvac019.

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

  11. Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report

    Lauffer, P., Bikker, H., Boelen, A., Jöbsis, J. J., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., 1 Apr 2022, In: Thyroid. 32, 4, p. 472-474 3 p.

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

  12. 2021

  13. Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

    Lauffer, P., Bikker, H., Garrelfs, M. R., Hillebrand, J. J. G., de Sonnaville, M-L. C. S., Zwaveling-Soonawala, N. & van Trotsenburg, A. S. P., Nov 2021, In: Thyroid. 31, 11, p. 1757-1762 6 p.

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

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ID: 7058957