Anneke Vulto - van Silfhout - Maastricht University

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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy
Vulto-van Silfhout, A. T., Jazet, I. M., Yzer, S., Pas, J., Demirdas, S., van Rossum, E. F. C., Thiadens, A. A. H. J., van Beek, R., Haer-Wigman, L., Barge-Schaapveld, D. Q. C. M., Brasch-Andersen, C., Frost, S., Bauwens, M., De Baere, E., Balikova, I., Van den Broeck, F., Weisz-Hubshman, M., Joset, P., Miny, P. & Filges, I. & 24 others, Kohl, S., De Angeli, P., Kühlewein, L., Bodenbender, J.-P., Haack, T., Poths, K., Fernandez-Caballero, L., Corton, M., Kelly, F. B., Ayuso, C., Martínez-Esteban, P., Vissing, J., Díaz-Manera, J., Straub, V., Töpf, A., Lin, S., Arno, G., Macken, W. L., Spillane, J., Ramachandran, R., de Vrieze, E., van Ham, T., Roosing, S. & Oud, M. M., Oct 2025, In: Genetics in Medicine. 27, 10, 101513.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias
Sandal, P., Jong, C. J., Merrill, R. A., Kollman, G. J., Paden, A. H., Bend, E. G., Sullivan, J., Spillmann, R. C., Shashi, V., Vulto-van Silfhout, A. T., Pfundt, R., de Vries, B. B. A., Li, P. P., Bicknell, L. S. & Strack, S., 15 Jan 2025, In: Human Molecular Genetics. 34, 2, p. 193-203 11 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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

Dive into details

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

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

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

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