Margje Sinnema

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 othersAccogli, 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

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 othersFliers, 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

A Novel Distal 22Q11.21 Microduplication In A 43-Year-Old Male Patient With Mild Intellectual Disability, Social Cognitive Dysfunctions, And Anxiety

Egger, J., Verhoeven, W., Verbeeck, W., Sinnema, M., Stegmann, A., Stuurop, K. & De Leeuw, N., 1 Jan 2023, In: Clinical Neuropsychiatry. 20, 5, p. 424-428 5 p.

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

De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood

Reijnders, M. R. F., Seibt, A., Brugger, M., Lamers, I. J. C., Ott, T., Klaas, O., Horvath, J., Rose, A. M. S., Craghill, I. M., Brunet, T., Graf, E., Mayerhanser, K., Hellebrekers, D., Pauck, D., Neuen-Jacob, E., Rodenburg, R. J. T., Wieczorek, D., Klee, D., Mayatepek, E., Driessen, G., & 8 othersBindermann, R., Averdunk, L., Lohmeier, K., Sinnema, M., Stegmann, A. P. A., Roepman, R., Poulter, J. A. & Distelmaier, F., 1 Jul 2023, In: Genetics in Medicine. 25, 7, 13 p., 100838.

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

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., van Amstel, H. K. P., & 12 othersde Boode, W. P., van Zelst-Stams, W. A. G., Frederix, G. W. J., Vissers, L. E. L. M., RADICON-NL Consortium, DE Koning, B., Stevens, S., van den Wijngaard, A., Sinnema, M., Stegmann, A., Vreeburg, M. & Brunner La Rocca, H-P., Jun 2023, In: European Journal of Pediatrics. 182, 6, p. 2683-2692 10 p.

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