Research output per year
Research output per year
Personal profile
Research interests
Human Genetics
specialisation
Genetics
specialisation
Protein modeling
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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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Rooney, K., van der Laan, L., Trajkova, S., Haghshenas, S., Relator, R., Lauffer, P., Vos, N., Levy, M. A., Brunetti-Pierri, N., Terrone, G., Mignot, C., Keren, B., de Villemeur, T. B., Volker-Touw, C. M. L., Verbeek, N., van der Smagt, J. J., Oegema, R., Brusco, A., Ferrero, G. B., Misra-Isrie, M., & 6 others, 1 Aug 2023, In: Genetics in medicine. 25, 8, 100871.Research output: Contribution to journal › Article › Academic › peer-review
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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
Open Access -
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. P., 1 Jul 2023, In: Thyroid. 33, 7, p. 880-884 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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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
Open Access -
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