Anneke Vulto - van Silfhout

Research output

Research output per year 2022 2022 2023 2023

• 2 Article

Research output per year

Research output per year

Search results

• 2023

  Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

  Cali, E., Suri, M., Scala, M., Ferla, M. P., Alavi, S., Faqeih, E. A., Bijlsma, E. K., Wigby, K. M., Baralle, D., Mehrjardi, M. Y. V., Schwab, J., Platzer, K., Steindl, K., Hashem, M., Jones, M., Niyazov, D. M., Jacober, J., Littlejohn, R. O., Weis, D., Zadeh, N., & 32 othersRodan, L., Goldenberg, A., Lecoquierre, F., Dutra-Clarke, M., Horvath, G., Young, D., Orenstein, N., Bawazeer, S., Vulto-van Silfhout, A. T., Herenger, Y., Dehghani, M., Seyedhassani, S. M., Bahreini, A., Nasab, M. E., Ercan-Sencicek, A. G., Firoozfar, Z., Movahedinia, M., Efthymiou, S., Striano, P., Karimiani, E. G., Salpietro, V., Taylor, J. C., Redman, M., Stegmann, A. P. A., Laner, A., Abdel-Salam, G., Li, M., Bengala, M., Müller, A. J., Digilio, M. C., Maroofian, R. & Author collaboration, Jan 2023, In: Genetics in Medicine. 25, 1, p. 135-142 8 p.

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

  Open Access
• 2022

  SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

  El Chehadeh, S., Han, K. A., Kim, D., Jang, G. B., Bakhtiari, S., Lim, D., Kim, H. Y., Kim, J., Kim, H., Wynn, J., Chung, W. K., Vitiello, G., Cutcutache, I., Page, M., Gecz, J., Harper, K., Han, A. R., Kim, H. M., Wessels, M., Bayat, A., & 20 othersJaen, A. F., Selicorni, A., Maitz, S., de Brouwer, A. P. M., Vulto-van Silfhout, A., Armstrong, M., Symonds, J., Kury, S., Isidor, B., Cogne, B., Nizon, M., Feger, C., Muller, J., Torti, E., Grange, D. K., Willems, M., Kruer, M. C., Ko, J., Piton, A. & Um, J. W., 15 Jul 2022, In: Nature Communications. 13, 1, 19 p., 4112.

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

  Open Access