DA Klinische Genetica

Sietse Aukema
- DA KG AIOS - PhD MUMC+
Person: Paid Staff - azM-employee
20222023
Marinus Blok
- DA KG Lab Specialisten - Clinical physicist/chemist
- GROW - Reproductive and Perinatal Medicine
Person: Paid Staff - Academic Staff, Paid Staff - azM-employee
19982023
Eveline Blom
- DA KG Polikliniek - PhD MUMC+
Person: Paid Staff - azM-employee
20102018

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H., Sheppard, S. E., & 29 othersKeena, B., Hakonarson, H., Roos, A., Kohlschmidt, N., Cereda, A., Iascone, M., Rebessi, E., Kernohan, K. D., Campeau, P. M., Millan, F., Taylor, J. A., Lochmüller, H., Higgs, M. R., Goula, A., Bernhard, B., Velasco, D. J., Schmanski, A. A., Stark, Z., Gallacher, L., Pais, L., Marcogliese, P. C., Yamamoto, S., Raun, N., Jakub, T. E., Kramer, J. M., den Hoed, J., Fisher, S. E., Brunner, H. G. & Kleefstra, T., 12 Jan 2023, In: HGG advances. 4, 1, 9 p., 100157.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

1 Citation (Web of Science)
A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium
Lannoo, L., van der Meij, K. R. M., Bekker, M. N., De Catte, L., Deckers, S., Devriendt, K., Roggen, N., Robert-Jan, H. G., van der Wal, J., Macville, M. V. E., Martin, L., Sistermans, E. A., Van Calsteren, K., Van Keirsbilck, J., Crombag, N. & Henneman, L., Mar 2023, In: Prenatal Diagnosis. 43, 3, p. 294-303 10 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access

1 Citation (Web of Science)
Alitretinoin as a treatment modality for ichthyosis in women of childbearing age - a case series and review of the literature
Clabbers, J., van Oosten, N., Bolling, M., Vreeburg, M., van Geel, M., Steijlen, P. & Gostynski, A., 1 Sept 2023, In: Dermatology. 13 p.
Research output: Contribution to journal › (Systematic) Review article › peer-review

DA Klinische Genetica

Profiles

Sietse Aukema

Marinus Blok

Eveline Blom

Research output

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium

Alitretinoin as a treatment modality for ichthyosis in women of childbearing age - a case series and review of the literature