Lynne Rumping

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant

O'Neill, M. J., Chen, S. N., Rumping, L., Johnson, R., van Slegtenhorst, M., Glazer, A. M., Yang, T., Solus, J. F., Laudeman, J., Mitchell, D. W., Vanags, L. R., Kroncke, B. M., Anderson, K., Gao, S., Verdonschot, J. A. J., Brunner, H., Hellebrekers, D., Taylor, M. R. G., Roden, D. M., Wessels, M. W., & 4 othersLekanne Dit Deprez, R. H., Fatkin, D., Mestroni, L. & Shoemaker, M. B., Aug 2023, In: Heart Rhythm. 20, 8, p. 1158-1166 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome

Rumping, L., Hennekam, R. C. M., Alders, M. & van Haelst, M. M., Jan 2023, In: European journal of human genetics. 31, 1, p. 16-17 2 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American journal of medical genetics. Part A. 185, 12, p. 3814-3820 7 p.

Research output: Contribution to journal › Article › Academic › peer-review