Skip to main navigation Skip to search Skip to main content
No photo of Margje Sinnema

Margje Sinnema

20102026

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.
  • 6 Similar Profiles
View full fingerprint
  • 41 Article
  • 1 Erratum / corrigendum
  • 1 Comment/Letter to the editor
  • 1 Doctoral Thesis

  • Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder

    Boone, P. M., Erdin, S., Mohamed, A., Haghshenas, S., Faour, K. N. W., Kao, E., Fu, J., Auwerx, C., Harripaul, R., Jana, B., Springer, D., Hallstrom, G., de Esch, C. E. F., Denhoff, E., Holmes, L., Mohajeri, K., Lemanski, J., Kerkhof, J., McConkey, H. & Rzasa, J. & 34 others, McCune, M. J., Levy, M. A., Grafstein, J., Larson, M., Wright, Z., Beauchamp, R. L., Lucente, D., Jamra, R. A., Agrawal, N., Agrawal, P. B., Andersen, E. F., Argilli, E., Araiza, R., Ballal, S., Baxter, M. F., Bergant, G., Bertsche, A., Bhavsar, R., Bortola, D. R., Bothe, V., Brasch-Andersen, C., Braun, D., Bruel, A. L., Buchanan, C., Burt, N. D., Carvalho, L. M. L., Chiriatti, L., Cogne, B., Collins, R., Crunk, A., Et al., Sinnema, M., Stegmann, A. & Stevens, S., 6 Aug 2026, In: American Journal of Human Genetics. 113, 8, p. 1691–1718 28 p.

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

  • 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

  • The mTOR-Dop1a-Agpat2 axis regulates nuclear phospholipid homeostasis

    Ariyama, H., Tsukamura, A., Miyatake, S., Okado, S., Itabashi, I., Ogura, A., Suzuki, A., Kurakawa, H., Sakaguchi, Y., Nakatake, Y., Sanada, R., Terakado, I., Koshimizu, E., Mizuguchi, T., Hamada, K., Ogata, K., Nakagawa, E., Sakakibara, T., Shirai, M. & Fujihara, Y. & 26 others, Ullah, M., Quinodoz, M., Rivolta, C., Khan, A. G., Khan, M. N., Ansar, M., Gerkes, E. H., Rinne, T., Stegmann, A. P. A., Sinnema, M., Alghamdi, M. A., Alharby, E., Balahmar, R. M., Almontashiri, N. A. M., Baer, S., Piton, A., Dies Curie, C., Mercier, S., Cogne, B., Yap, P., Morita, S.-Y., Kakita, A., Kato, M., Maruo, Y., Matsumoto, N. & Mori, M., 19 Jun 2026, In: iScience. 29, 6, 23 p., 115860.

    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
View all 44 research outputs