Nienke Verbeek

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Research activity per year

60 Article
23 Poster
9 Abstract
5 Comment/Letter to the editor
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- 1 Meeting Abstract
- 1 Doctoral thesis 1 (Research UU / Graduation UU)

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1184-1205 22 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L., Bosch, D. G. M., & 40 othersVitobello, A., Thauvin-Robinet, C., Faivre, L., Nambot, S., Garde, A., Willems, M., Genevieve, D., Nicolas, G., Busa, T., Toutain, A., Gérard, M., Bizaoui, V., Isidor, B., Merla, G., Accadia, M., Schwartz, C. E., Ounap, K., Hoffer, M. J. V., Nezarati, M. M., van den Boogaard, M-J. H., Tedder, M. L., Rogers, C., Brusco, A., Ferrero, G. B., Spodenkiewicz, M., Sidlow, R., Mussa, A., Trajkova, S., McCann, E., Mroczkowski, H. J., Jansen, S., Donker-Kaat, L., Duijkers, F. A. M., Stuurman, K. E., Mannens, M. M. A. M., Alders, M., Henneman, P., White, S. M., Sadikovic, B. & van Haelst, M. M., Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butler, K. M., Schreiber, A., Alsadah, A., Neilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., McCann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, Á., Gil-Nagel, A., & 24 othersTatton-Brown, K., Verbeek, N. E., van Hirtum-Das, M., Breckpot, J., Hammer, T. B., Møller, R. S., Whitney, A., Douglas, A. G. L., Kharbanda, M., Brunetti-Pierri, N., Morleo, M., Nigro, V., May, H. J., Tao, J. X., Argili, E., Sherr, E. H., Dobyns, W. B., Consortium, G. E. R., Baines, R. A., Warwicker, J., Parker, J. A., Banka, S., Campeau, P. M. & Escayg, A., 1 Apr 2023, In: Brain : a journal of neurology. 146, 4, p. 1357-1372 16 p.
Research output: Contribution to journal › Article › Academic › peer-review
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
van Jaarsveld, R. H., Reilly, J., Cornips, M-C., Hadders, M. A., Agolini, E., Ahimaz, P., Anyane-Yeboa, K., Bellanger, S. A., van Binsbergen, E., van den Boogaard, M-J., Brischoux-Boucher, E., Caylor, R. C., Ciolfi, A., van Essen, T. A. J., Fontana, P., Hopman, S., Iascone, M., Javier, M. M., Kamsteeg, E-J., Kerkhof, J., & 39 othersKido, J., Kim, H-G., Kleefstra, T., Lonardo, F., Lai, A., Lev, D., Levy, M. A., Lewis, M. E. S., Lichty, A., Mannens, M. M. A. M., Matsumoto, N., Maya, I., McConkey, H., Megarbane, A., Michaud, V., Miele, E., Niceta, M., Novelli, A., Onesimo, R., Pfundt, R., Popp, B., Prijoles, E., Relator, R., Redon, S., Rots, D., Rouault, K., Saida, K., Schieving, J., Tartaglia, M., Tenconi, R., Uguen, K., Verbeek, N., Walsh, C. A., Yosovich, K., Yuskaitis, C. J., Zampino, G., Sadikovic, B., Alders, M. & Oegema, R., Jan 2023, In: Genetics in medicine : official journal of the American College of Medical Genetics. 25, 1, p. 49-62 14 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
9 Downloads (Pure)
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families
van de Pol, M., O'Gorman, L., Corominas-Galbany, J., Cliteur, M., Derks, R., Verbeek, N. E., van de Warrenburg, B. & Kamsteeg, E-J., Aug 2023, In: Movement Disorders. 38, 8, p. 1555-1556 2 p.
Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Open Access
File

6 Downloads (Pure)

15 Oral presentation
4 Invited talk
3 Participation in workshop, seminar, course
2 Participation in conference

DNA-onderzoek bij Epilepsie: Wat, waarom, hoe?
Nienke Verbeek (Speaker)
21 Jun 2019
Activity: Talk or presentation › Oral presentation › Professional
Genetica en epilepsie
Nienke Verbeek (Speaker)
2 Apr 2019
Activity: Talk or presentation › Invited talk › Professional
Genetica bij epilepsie
Nienke Verbeek (Speaker)
11 Mar 2019
Activity: Talk or presentation › Invited talk › Professional
Kenmerken en vooruitzichten bij “kleine” epilepsiesyndromen
Nienke Verbeek (Speaker)
26 Jan 2019
Activity: Talk or presentation › Oral presentation › Popular
Nieuwe genetische inzichten in neonatale epilepsie
Nienke Verbeek (Speaker)
13 Jun 2018
Activity: Talk or presentation › Invited talk › Professional

Nienke Verbeek

Collaborations and top research areas from the last five years

Dive into details

Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families

DNA-onderzoek bij Epilepsie: Wat, waarom, hoe?

Genetica en epilepsie

Genetica bij epilepsie

Kenmerken en vooruitzichten bij “kleine” epilepsiesyndromen

Nieuwe genetische inzichten in neonatale epilepsie

Nienke Verbeek

Collaborations and top research areas from the last five years

Research output

Activities