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Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician.
Lauffer P, Kamp GA, Menke LA, Wit JM, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children. Lauffer P, et al. Horm Res Paediatr. 2019;91(5):293-310. doi: 10.1159/000500810. Epub 2019 Jul 12. Horm Res Paediatr. 2019. PMID: 31302655 Free article. Review.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: lauffer p. Int J Mol Sci. 2022 Nov 8;23(22):13664. doi: 10.3390/ijms232213664. Int J Mol Sci. 2022. PMID: 36430143 Free PMC article.
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 MA, Brunetti-Pierri N, Terrone G, Mignot C, Keren B, de Villemeur TB, Volker-Touw CML, Verbeek N, van der Smagt JJ, Oegema R, Brusco A, Ferrero GB, Misra-Isrie M, Hochstenbach R, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. Rooney K, et al. Among authors: lauffer p. Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37120726 Free article.
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 MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers LELM, Dingemans AJM, Valenzuela I, Verberne EA, Misra-Isrie M, Zwijnenburg PJG, Waisfisz Q, Alders M, Sailer S, Schaaf CP, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. van der Laan L, et al. Among authors: lauffer p. Genet Med. 2024 Mar;26(3):101050. doi: 10.1016/j.gim.2023.101050. Epub 2023 Dec 18. Genet Med. 2024. PMID: 38126281 Free article.
Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval: A Systematic Review and Meta-Analysis of Individual Participant Data.
Lauffer P, Heinen CA, Goorsenberg AWM, Malekzadeh A, Henneman P, Heijboer AC, Zwaveling-Soonawala N, Boelen A, van Trotsenburg ASP. Lauffer P, et al. Thyroid. 2024 Apr 2. doi: 10.1089/thy.2023.0562. Online ahead of print. Thyroid. 2024. PMID: 38563802
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 MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, Fischer J, Szakszon K, Faivre L, Piton A, Mesman S, Hochstenbach R, Elting MW, van Hagen JM, Plomp AS, Mannens MMAM, Alders M, van Haelst MM, Ferrero GB, Brusco A, Henneman P, Sweetser DA, Sadikovic B, Vitobello A, Menke LA. van der Laan L, et al. Among authors: lauffer p. HGG Adv. 2024 Apr 2;5(3):100289. doi: 10.1016/j.xhgg.2024.100289. Online ahead of print. HGG Adv. 2024. PMID: 38571311 Free PMC article.
29 results