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Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4
Lauffer, P., Naafs, J. C., Bikker, H., Garrelfs, M. R., Mooij, C. F., Boelen, A., Zwaveling-Soonawala, N. & van Trotsenburg, A. S. P., 1 Jul 2023, In: Thyroid. 33, 7, p. 880-884 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance
Copier, J. S., Bootsma, M., Ng, C. A., Wilde, A. A. M., Bertels, R. A., Bikker, H., Christiaans, I., van der Crabben, S. N., Hol, J. A., Koopmann, T. T., Knijnenburg, J., Lommerse, A. A. J., van der Smagt, J. J., Bezzina, C. R., Vandenberg, J. I., Verkerk, A. O., Barge-Schaapveld, D. Q. C. M. & Lodder, E. M., 20 Mar 2023, In: Human Molecular Genetics. 32, 7, p. 1072-1082 11 p.Research output: Contribution to journal › Article › Academic › peer-review
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Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?
van der Crabben, S. N., Mörner, S., Lundström, A. C., Jonasson, J., Bikker, H., Amin, A. S., Rydberg, A. & Wilde, A. A. M., Nov 2022, In: European journal of human genetics. 30, 11, p. 1208-1210 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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