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DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
Lavillaureix, A., Rollier, P., Kim, A., Panasenkava, V., de Tayrac, M., Carré, W., Guyodo, H. L., Faoucher, M., Poirel, E., Akloul, L., Quélin, C., Whalen, S., Bos, J., Broekema, M., van Hagen, J. M., Grand, K., Allen-Sharpley, M., Magness, E., McLean, S. D. & Kayserili, H. L. & 22 others, , 1 Jul 2024, In: Genetics in Medicine. 26, 7, 101126.Research output: Contribution to journal › Article › Academic › peer-review
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Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
Demirdas, S., van den Bersselaar, L. M., Lechner, R., Bos, J., Alsters, S. I. M., Baars, M. J. H., Baas, A. F., Baysal, Ö., van der Crabben, S. N., Dulfer, E., Giesbertz, N. A. A., Helderman-van den Enden, A. T. J. M., Hilhorst-Hofstee, Y., Kempers, M. J. E., Komdeur, F. L., Loeys, B., Majoor-Krakauer, D., Ockeloen, C. W., Overwater, E. & van Tintelen, P. J. & 6 others, , 1 Jun 2024, In: Circulation. Genomic and precision medicine. 17, 3, p. e003978Research output: Contribution to journal › Article › Academic › peer-review
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Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)
Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M.-C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M. & Boon, E. M. J. & 14 others, , 1 Dec 2021, In: npj Genomic Medicine. 6, 1, 100.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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