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

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