Margje Sinnema

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39 Article
1 Erratum / corrigendum
1 Comment/Letter to the editor
1 Doctoral Thesis

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, Wilke, M., Weerts, M. J. A., van Minkelen, R., Wagner, A., Bouman, A., van Paassen, B. W., Verheijen-Mancini, G. M., Laar, I. M. B. H. V. D., Kievit, J. A., Verhagen, J. M. A., Stuurman, K. E., Kaat, L. D., van Dooren, M. F., Wessels, M. W., Oldenburg, R. A., Zeidler, S., van Dijk, T., Barakat, T. S., Verhoeven, V. J. M., van Bever, Y., van Ierland, Y., Bannink, N., van Koningsbruggen, S., Lakeman, P., Leeuwen, L., Verbeek, N. E., Sinnema, M., Heijligers, M., van Asperen, C. J., Saris, J. J., Et al. & Van Ham, T., 15 Jan 2026, In: HGG advances. 7, 1, 16 p., 100521.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects
Correa-da-Silva, F., Berkhout, J. B., Schouten, P., Sinnema, M., Stumpel, C. T. R. M., Curfs, L. M. G., Höybye, C., Mahfouz, A., Meijer, O. C., Pereira, A. M., Fliers, E., Swaab, D. F., Kalsbeek, A. & Yi, C.-X., May 2025, In: Journal of neuroendocrinology. 37, 5, 12 p., e70015.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
The expanding clinical and genetic spectrum of DYNC1H1-related disorders
Möller, B., Becker, L.-L., Saffari, A., Afenjar, A., Coci, E. G., Williamson, R., Ward-Melver, C., Gibaud, M., Sedlácková, L., Laššuthová, P., Libá, Z., Vlcková, M., William, N., Klee, E. W., Gavrilova, R. H., Lévy, J., Capri, Y., Scavina, M., Körner, R. W. & Valuvullah, Z. & 28 others, Weiß, C., Möller, G. M., Thiel, M., Sinnema, M., Kamsteeg, E.-J., Donkervoort, S., Duboc, V., Zaafrane-Khachnaoui, K., Elkhateeb, N., Selim, L., Margot, H., Marin, V., Beneteau, C., Isidor, B., Cogne, B., Keren, B., Küsters, B., Beggs, A. H., Genetti, C. A., Nicolai, J., Dötsch, J., Koy, A., Bönnemann, C. G., von der Hagen, M., von Kleist-Retzow, J.-C., Voermans, N., Jungbluth, H. & Dafsari, H. S., 1 Feb 2025, In: Brain. 148, 2, p. 597-612 16 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Pan, X., Tao, A. M., Lu, S., Ma, M., Hannan, S. B., Slaugh, R., Drewes Williams, S., O'Grady, L., Kanca, O., Person, R., Carter, M. T., Platzer, K., Schnabel, F., Abou Jamra, R., Roberts, A. E., Newburger, J. W., Revah-Politi, A., Granadillo, J. L., Stegmann, A. P. A. & Sinnema, M. & 14 others, Accogli, A., Salpietro, V., Capra, V., Ghaloul-Gonzalez, L., Brueckner, M., Simon, M. E. H., Sweetser, D. A., Glinton, K. E., Kirk, S. E., Wangler, M. F., Yamamoto, S., Chung, W. K., Bellen, H. J. & Baylor College of Medicine Center for Precision Medicine Models, 4 Apr 2024, In: American Journal of Human Genetics. 111, 4, p. 742-760 19 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?
Kingma, S. D. K., Steinbusch, L. K. M., Aukema, S. M., Sinnema, M., Panis, B., Nicolai, J. & Rubio-Gozalbo, E., 1 Dec 2024, In: Molecular Genetics and Metabolism Reports. 41, 3 p., 101159.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Margje Sinnema

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Research output

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

Selective changes in vasopressin neurons and astrocytes in the suprachiasmatic nucleus of Prader-Willi syndrome subjects

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?