Margje Sinnema

Research activity per year

Fingerprint

Dive into the research topics where Margje Sinnema is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

1 Similar Profiles

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

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
Het Prader-Willi-syndroom: Het belang van vroege herkenning
Translated title of the contribution: The importance of early recognition of Prader-Willi syndromeJanssen, E. J. M., Burgers, M., Kerkhof, G. F., Klaassens, M., Sinnema, M. & Geelen, J. M., 8 May 2024, In: Nederlands Tijdschrift voor Geneeskunde. 168
Research output: Contribution to journal › Article › Academic › peer-review
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion
Correa-da-Silva, F., Carter, J., Wang, X.-Y., Sun, R., Pathak, E., Kuhn, J. M. M., Schriever, S. C., Maya-Monteiro, C. M., Jiao, H., Kalsbeek, M. J., Moraes-Vieira, P. M. M., Gille, J. J. P., Sinnema, M., Stumpel, C. T. R. M., Curfs, L. M. G., Stenvers, D. J., Pfluger, P. T., Lutter, D., Pereira, A. M. & Kalsbeek, A. & 5 others, Fliers, E., Swaab, D. F., Wilkinson, L., Gao, Y. & Yi, C.-X., 31 Mar 2024, In: Acta Neuropathologica. 147, 1, p. 64
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

Margje Sinnema

Fingerprint

Research output

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?

Het Prader-Willi-syndroom: Het belang van vroege herkenning

Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion