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, Hochstenbach, R, Alders, M, Mannens, M M A M, Sadikovic, B, van Haelst, M M & Henneman, P 2023, ' DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder ', Genetics in Medicine, vol. 25, no. 8, 100871 . https://doi.org/10.1016/j.gim.2023.100871 Genetics in Medicine, 25(8):100871. Lippincott Williams and Wilkins
Human molecular genetics, 31(17), 2951-2963. Oxford University Press Human Molecular Genetics, 31(17), 2951-2963. Oxford University Press 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 2022, ' An animal model for Pierpont syndrome : a mouse bearing the Tbl1xr1Y446C/Y446C mutation ', Human Molecular Genetics, vol. 31, no. 17, pp. 2951-2963 . https://doi.org/10.1093/hmg/ddac086
American journal of medical genetics. Part A, 191(2), 479-489. Wiley-Liss Inc. American Journal of Medical Genetics. Part A, 191, 2, pp. 479-489 The American Journal of Medical Genetics-Part A, 191(2), 479-489. WILEY American Journal of Medical Genetics, Part A, 191(2), 479-489. Wiley-Liss Inc. American Journal of Medical Genetics Part A, 191(2), 479-489. Wiley American Journal of Medical Genetics. Part A, 191, 479-489 American journal of medical genetics : part A American Journal of Medical Genetics, Part A, 191(2). Wiley American journal of medical genetics. Part A. Wiley-Liss Inc. 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 2023, ' Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships ', American Journal of Medical Genetics, Part A, vol. 191, no. 2, pp. 479-489 . https://doi.org/10.1002/ajmg.a.63047
Lauffer, P, Bikker, H, Boelen, A, Jöbsis, J J, van Trotsenburg, A S P & Zwaveling-Soonawala, N 2022, ' Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB : A Case Report ', Thyroid, vol. 32, no. 4, pp. 472-474 . https://doi.org/10.1089/thy.2021.0651 Thyroid, 32(4), 472-474. Mary Ann Liebert Inc.