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

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

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

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., 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.

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

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

Vos, N., Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., 2024, (E-pub ahead of print) In: European journal of human genetics.

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