Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S., & 67 othersHilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Pizzi, S., Plomp, A. S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., St John, M., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Kerrnohan, K. D., McNeill, A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L., Sadikovic, B. & Menke, L. A., 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, p. 100075

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

DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

Vos, N., Reilly, J., Elting, M. W., Campeau, P. M., Coman, D., Stark, Z., Tan, T. Y., Amor, D. J., Kaur, S., StJohn, M., Morgan, A. T., Kamien, B. A., Patel, C., Tedder, M. L., Merla, G., Prontera, P., Castori, M., Muru, K., Collins, F., Christodoulou, J., & 13 othersSmith, J., Zeev, B. B., Murgia, A., Leonardi, E., Esber, N., Martinez-Monseny, A., Casas-Alba, D., Wallis, M., Mannens, M., Levy, M. A., Relator, R., Alders, M. & Sadikovic, B., 1 Mar 2023, In: Epigenomics. 15, 6, p. 351-367 17 p.

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

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome

Kumps, C., D’haenens, E., Kerkhof, J., McConkey, H., Alders, M., Sadikovic, B. & Vanakker, O. M., 2023, (E-pub ahead of print) In: European journal of human genetics.

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Sex-specific newborn screening for X-linked adrenoleukodystrophy

Albersen, M., van der Beek, S. L., Dijkstra, I. M. E., Alders, M., Barendsen, R. W., Bliek, J., Boelen, A., Ebberink, M. S., Ferdinandusse, S., Goorden, S. M. I., Heijboer, A. C., Jansen, M., Jaspers, Y. R. J., Metgod, I., Salomons, G. S., Vaz, F. M., Verschoof-Puite, R. K., Visser, W. F., Dekkers, E., Engelen, M., & 1 othersKemp, S., 17 Jan 2023, In: Journal of Inherited Metabolic Disease. 46, 1, p. 116-128 13 p.

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

“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome

Rumping, L., Hennekam, R. C. M., Alders, M. & van Haelst, M. M., Jan 2023, In: European journal of human genetics. 31, 1, p. 16-17 2 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic