Liselot van der Laan

Research output

Research output per year 2022 2022 2023 2024 2024

• 9 Article
• 1 Review article
• 1 Other contribution

Research output per year

Research output per year

Search results

• 2024

  Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

  Sabbagh, Q., Haghshenas, S., Piard, J., Trouvé, C., Amiel, J., Attié-Bitach, T., Balci, T., Barat-Houari, M., Belonis, A., Boute, O., Brightman, D. S., Bruel, A-L., Caraffi, S. G., Chatron, N., Collet, C., Dufour, W., Edery, P., Fong, C-T., Fusco, C., Gatinois, V., & 46 othersGouy, E., Guerrot, A-M., Heide, S., Joshi, A., Karp, N., Keren, B., Lesieur-Sebellin, M., Levy, J., Levy, M. A., Lozano, C., Lyonnet, S., Margot, H., Marzin, P., McConkey, H., Michaud, V., Nicolas, G., Nizard, M., Paulet, A., Peluso, F., Pernin, V., Perrin, L., Philippe, C., Prasad, C., Prasad, M., Relator, R., Rio, M., Rondeau, S., Ruault, V., Ruiz-Pallares, N., Sanchez, E., Shears, D., Siu, V. M., Sorlin, A., Tedder, M., Tharreau, M., Mau-Them, F. T., van der Laan, L., van Gils, J., Verloes, A., Whalen, S., Willems, M., Yauy, K. V., Zuntini, R., Kerkhof, J., Sadikovic, B. & Geneviève, D., 1 Jan 2024, In: Genetics in medicine. 26, 1, 101007.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

  Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A., Louie, R. J., & 15 othersMotazacker, M. M., Rzasa, J., Stevenson, R. E., Plomp, A., van der Laan, L., van der Smagt, J., Walden, K. K., Banka, S., Mannens, M., Skinner, S. A., Friez, M. J., Campbell, C., Tedder, M. L., Alders, M. & Sadikovic, B., 1 May 2024, In: Genetics in medicine. 26, 5, 101075.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• 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 othersWaisfisz, Q., Alders, M., Sailer, S., Schaaf, C. P., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 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 othersHochstenbach, R., Elting, M. W., van Hagen, J. M., Plomp, A. S., Mannens, M. M. A. M., Alders, M., van Haelst, M. M., Ferrero, G. B., Brusco, A., Henneman, P., Sweetser, D. A., Sadikovic, B., Vitobello, A. & Menke, L. A., 2 Apr 2024, (E-pub ahead of print) In: Human Genetics and Genomics Advances. p. 100289

  Research output: Contribution to journal › Article › Academic › peer-review

• Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

  Pérez Baca, M. D. R., Jacobs, E. Z., Vantomme, L., Leblanc, P., Bogaert, E., Dheedene, A., de Cock, L., Haghshenas, S., Foroutan, A., Levy, M. A., Kerkhof, J., McConkey, H., Chen, C-A., Batzir, N. A., Wang, X., Palomares, M., Carels, M. & ZFHX3 consortium, 7 Mar 2024, In: American journal of human genetics. 111, 3, p. 509-528 20 p.

  Research output: Contribution to journal › Article › Academic › peer-review
• 2023

  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 othersHochstenbach, R., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 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 Access
  2 Citations (Scopus)

• Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

  van der Laan, L., Rooney, K., Haghshenas, S., Silva, A., McConkey, H., Relator, R., Levy, M. A., Valenzuela, I., Trujillano, L., Lasa-Aranzasti, A., Campos, B., Castells, N., Verberne, E. A., Maas, S., Alders, M., Mannens, M. M. A. M., van Haelst, M. M., Sadikovic, B. & Henneman, P., 1 Sept 2023, In: International journal of molecular sciences. 24, 18, 14240.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  1 Citation (Scopus)
• 2022

  DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

  Verberne, E. A., van der Laan, L., Haghshenas, S., Rooney, K., Levy, M. A., Alders, M., Maas, S. M., Jansen, S., Lieden, A., Anderlid, B-M., Rafael-Croes, L., Campeau, P. M., Chaudhry, A., Koolen, D. A., Pfundt, R., Hurst, A. C. E., Tran-Mau-Them, F., Bruel, A-L., Lambert, L., Isidor, B., & 4 othersMannens, M. M. A. M., Sadikovic, B., Henneman, P. & van Haelst, M. M., 20 Jul 2022, In: International journal of molecular sciences. 23, 14, 8001.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  8 Citations (Scopus)