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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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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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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 others , 1 Mar 2024, In: Genetics in medicine. 26, 3, 101050.Research output: Contribution to journal › Article › Academic › peer-review
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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 others , 18 Dec 2023, (E-pub ahead of print) In: Genetics in medicine. p. 101050Research output: Contribution to journal › Article › Academic › peer-review
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