DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Coenen-van der Spek, J., Relator, R., Kerkhof, J., McConkey, H., Levy, M. A., Tedder, M. L., Louie, R. J., Fletcher, R. S., Moore, H. W., Childers, A., Farrelly, E. R., Champaigne, N. L., Lyons, M. J., Everman, D. B., Rogers, R. C., Skinner, S. A., Renck, A., Matalon, D. R., Dills, S. K., Monteleone, B., & 9 anderenDemirdas, S., Dingemans, A. J. M., Donker Kaat, L., Kolk, S. M., Pfundt, R., Rump, P., Sadikovic, B., Kleefstra, T. & Butler, K. M., jan.-2023, In: Genetics in Medicine. 25, 1, blz. 63-75 13 blz.

Onderzoeksoutput › Academic › peer review

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

Oh, R. Y., Deshwar, A. R., Marwaha, A., Sabha, N., Tropak, M., Hou, H., Yuki, K. E., Wilson, M. D., Rump, P., Lunsing, R., Elserafy, N., Chung, C. W. T., Hewson, S., Klein-Rodewald, T., Calzada-Wack, J., Moreno, A. S., Kraiger, M., Marschall, S., Fuchs, H., Gailus-Durner, V., & 3 anderenHrabe de Angelis, M., Dowling, J. & Schulze, A., nov.-2022, In: Genetics in Medicine. 24, 11, blz. 2399-2407 9 blz.

Onderzoeksoutput › Academic › peer review

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Chung, H-L., Rump, P., Lu, D., Glassford, M. R., Mok, J-W., Fatih, J., Basal, A., Marcogliese, P. C., Kanca, O., Rapp, M., Fock, J. M., Kamsteeg, E-J., Lupski, J. R., Larson, A., Haninbal, M. C., Bellen, H. & Harel, T., 1-okt.-2022, In: Human Molecular Genetics. 31, 19, blz. 3231–3244 14 blz.

Onderzoeksoutput › Academic › peer review

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

de Haan, A., Eijgelsheim, M., Rump, P., Van der Zwaag, B., Zivna, M., Kmoch, S., Bleyer, A., Kidd, K., Van Eerde, A. M., Knoers, N. & De Borst, M., mei-2022, In: Nephrology Dialysis Transplantation. 37, blz. I16-I16 1 blz.

Onderzoeksoutput › Academic

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

Vlaskamp, D. R. M., Rump, P., Callenbach, P. M. C., Brilstra, E. H., Velthuizen, M. E., Brouwer, O. F., Ranchor, A. V. & van Ravenswaaij-Arts, C. M. A., mei-2021, In: European Journal of Paediatric Neurology. 32, blz. 128-135 8 blz.

Onderzoeksoutput › Academic › peer review