Amsterdam Cardiovascular Sciences
-
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 others , 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, p. 100075Research output: Contribution to journal › Article › Academic › peer-review
- All publications
-
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., Dec 2023, In: European journal of human genetics. 31, 12, p. 1350-1354 5 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
-
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 others , 1 Mar 2023, In: Epigenomics. 15, 6, p. 351-367 17 p.Research output: Contribution to journal › Article › Academic › peer-review
-
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 others , 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
- All publications