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, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan, L., Karimi, K., Rooney, K., Lauffer, P., McConkey, H., Caro, P., Relator, R., Levy, M. A., Bhai, P., Mignot, C., Keren, B., Briuglia, S., Sobering, A. K., Li, D., Vissers, L. E. L. M., Dingemans, A. J. M., Valenzuela, I., Verberne, E. A., Misra-Isrie, M., Zwijnenburg, P. J. G., & 8 others, 1 Mar 2024, In: Genetics in medicine. 26, 3, 101050.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., & 14 others, 2 Apr 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100289Research output: Contribution to journal › Article › Academic › peer-review
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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
MKHK Research Consortium, 28 Mar 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100287Research output: Contribution to journal › Article › Academic › peer-review
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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
7 Citations (Scopus) -
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 Access2 Citations (Scopus)
Datasets
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Supplementary Material for: Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician
Lauffer, P. (Creator), Kamp, G. A. (Creator), Menke, L. (Creator), Wit, J. M. (Creator), Oostdijk, W. (Creator) & Wit, J. M. (Creator), Karger Publishers, 2019
DOI: 10.6084/m9.figshare.8863559.v1, https://karger.figshare.com/articles/Supplementary_Material_for_Towards_a_Rational_and_Efficient_Diagnostic_Approach_in_Children_Referred_for_Tall_Stature_and_or_Accelerated_Growth_to_the_General_Paediatrician/8863559/1
Dataset
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Supplementary Material for: Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician
Lauffer, P. (Creator), Kamp, G. A. (Creator), Menke, L. (Creator), Wit, J. M. (Creator), Oostdijk, W. (Creator) & Wit, J. M. (Creator), Karger Publishers, 2019
DOI: 10.6084/m9.figshare.8863559, https://karger.figshare.com/articles/Supplementary_Material_for_Towards_a_Rational_and_Efficient_Diagnostic_Approach_in_Children_Referred_for_Tall_Stature_and_or_Accelerated_Growth_to_the_General_Paediatrician/8863559
Dataset