Personal profile
Research interests
I am a medical doctor and clinical geneticist i.t. at the Amsterdam UMC. I have previously worked as a genetic counselor in cardiogenetics and completed my PhD on congenital hypothyroidism, combining pediatric endocrinology and human genetics. I have experience in genetic counselling, molecular diagnostics, bioinformatics, and have supervised students across medical and interdisciplinary programs. My broad clinical and research background enables me to bridge the domains of patient care, laboratory genomics and computational analysis.
My current research interests are generative AI, AI classification algorithms and automation/optimization.
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Collaborations and top research areas from the last five years
Research output
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Correct neonatal free thyroxine reference intervals are crucial to detect central congenital hypothyroidism
Garrelfs, M. R., Lauffer, P., Hillebrand, J. J., Heijboer, A. C., Boelen, A., van Trotsenburg, A. S. P. & Zwaveling-Soonawala, N., Jun 2026, In: European Journal of Endocrinology. 194, 6, p. 778-785 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Multi-omics investigation of thyroid development and dysfunction in down syndrome
Lauffer, P., Zwaveling-Soonawala, N., Li Yim, A. Y. F., van der Laan, L., van Zelderen-Bhola, S., Venema, A. M., Mul, A. N., Bugiani, M., Siteur-van Rijnstra, E., Gunst, Q. D., van den Hoff, M. J. B., de Bakker, B. S., Boelen, A., Henneman, P. & van Trotsenburg, A. S. P., 23 Feb 2026, In: Human molecular genetics. 35, 4, ddag005.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile12 Downloads (Pure) -
Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia
Bergeman, A. T., Lauffer, P., Herkert, J. C., van den Heuvel, F. M. A., Clur, S.-A. B., Vermeer, A. M. C., Groffen, A. J. A., Jongbloed, J. D. H., Krapels, I. P. C., Schroer, C., Eijsbouts, S. C. M., Volders, P. G. A., van der Pas, V., Tian, S., Zhu, H.-L., Wang, R., Estillore, J. P., Wilde, A. A. M., van der Werf, C. & Chen, S. R. W. & 1 others, , 10 Apr 2026, (E-pub ahead of print) In: Circulation. Genomic and precision medicine. p. e005625 e005625.Research output: Contribution to journal › Article › Academic › peer-review
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Polygenic risk scores in routine genetic diagnostics: what lies ahead?
Lauffer, P., van Weelden, W., van Haelst, M. M. & Jansen, P. R., 1 Feb 2026, In: Journal of community genetics. 17, 1, 8.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile32 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., 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 AccessFile39 Downloads (Pure)