Anneke Vulto - van Silfhout — Maastricht University

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3 Article

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature
Rad, A., Bartsch, O., Bakhtiari, S., Zhu, C., Xu, Y., Monteiro, F. P., Kok, F., Vulto-van Silfhout, A. T., Kruer, M. C., Bowl, M. R. & Vona, B., Oct 2024, In: Clinical Genetics. 106, 4, p. 413-426 14 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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 others, Rodan, 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
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 others, Jaen, 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

Anneke Vulto - van Silfhout

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Collaborations and top research areas from the last five years

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Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature

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

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

Anneke Vulto - van Silfhout

Fingerprint

Collaborations and top research areas from the last five years

Research output

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature

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

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