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Dive into the research topics where Lynne Rumping is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
Hildonen, M., Ciolfi, A., Ferilli, M., Cappelletti, C., Al Alam, C., Amor, D. J., Barakat, T. S., Benoit, V., Birk, O. S., Callewaert, B., Cazurro-Gutiérrez, A., de Wachter, M., Doco-Fenzy, M., Gómez-Puertas, P., Hammer, T. B., Jamra, R. A., Kaiyrzhanov, R., Kameyama, S., Keren, B. & Kresge, C. & 21 others, , Jul 2025, In: European journal of human genetics. 33, 7, p. 896-903 8 p., 104522.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile23 Downloads (Pure) -
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, , 1 Jun 2024, In: Human genetics. 143, 6, p. 761-773 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile32 Downloads (Pure) -
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
Rumping, L., Pouwels, P. J. W., Wolf, N. I., Rehmann, H., Wamelink, M. M. C., Waisfisz, Q., Jans, J. J. M., Prinsen, H. C. M. T., van de Kamp, J. M. & van Hasselt, P. M., 1 May 2023, In: JIMD reports. 64, 3, p. 217-222 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile23 Downloads (Pure) -
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 others, , Aug 2023, In: Heart rhythm. 20, 8, p. 1158-1166 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile20 Downloads (Pure) -
“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
Open AccessFile28 Downloads (Pure)