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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
Alders, M., Hogan, B. M., Gjini, E., Salehi, F., Al-Gazali, L., Hennekam, E. A., Holmberg, E. E., Mannens, M. M. A. M., Mulder, M. F., Offerhaus, G. J. A., Prescott, T. E., Schroor, E. J., Verheij, J. B. G. M., Witte, M., Zwijnenburg, P. J., Vikkula, M., Schulte-Merker, S. & Hennekam, R. C., 2009, In: Nature Genetics. 41, 12, p. 1272-1274 3 p.Research output: Contribution to journal › Article › Academic › peer-review
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Mutations in ZBTB20 cause Primrose syndrome
Cordeddu, V., Redeker, B., Stellacci, E., Jongejan, A., Fragale, A., Bradley, T. E. J., Anselmi, M., Ciolfi, A., Cecchetti, S., Muto, V., Bernardini, L., Azage, M., Carvalho, D. R., Espay, A. J., Male, A., Molin, A-M., Posmyk, R., Battisti, C., Casertano, A., Melis, D., & 7 others, 2014, In: Nature Genetics. 46, 8, p. 815-817Research output: Contribution to journal › Article › Academic › peer-review
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Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience
Hofman, N., Tan, H. L., Alders, M., Kolder, I., de Haij, S., Mannens, M. M. A. M., Lombardi, M. P., Lekanne Deprez, R. H., van Langen, I. & Wilde, A. A. M., 2013, In: Circulation. 128, 14, p. 1513-1521Research output: Contribution to journal › Article › Academic › peer-review
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Distinct saliva DNA methylation profiles in relation to treatment outcome in youth with posttraumatic stress disorder
Ensink, J. B. M., Henneman, P., Venema, A., Zantvoord, J. B., den Kelder, R. O., Mannens, M. M. A. M. & Lindauer, R. J. L., 1 Dec 2024, In: Translational Psychiatry. 14, 1, 309.Research output: Contribution to journal › Article › Academic › peer-review
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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 others, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.Research output: Contribution to journal › Article › Academic › peer-review
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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 others, 1 May 2024, In: Genetics in medicine. 26, 5, 101075.Research output: Contribution to journal › Article › Academic › peer-review
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