Department of Genetics

Accelerating nephrogenetics: from gene discovery to clinical application
Claus, L., 3 Mar 2025, Utrecht University. 302 p.
Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)
A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib
Boulouadnine, B., Filser, M., Leducq, C., Losole, T., Bies, J., Smetsers, S., Kouwenberg, D., de Lange, I., Mensenkamp, A., Kordes, U. R., Minard-Colin, V., Orbach, D., Brichard, B., de Krijger, R., Masliah-Planchon, J. & Demoulin, J. B., Feb 2025, In: Genetics in Medicine. 27, 2, 101334.
Research output: Contribution to journal › Article › Academic › peer-review
Anaplerosis by medium-chain fatty acids through complex interplay with glucose and glutamine metabolism
German, H. M., Ciapaite, J., Verhoeven-Duif, N. M. & Jans, J. J. M., Mar 2025, In: Journal of Biological Chemistry. 301, 3, 13 p., 108307.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
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Cardiac-urogenital syndrome: a syndromic form of high hyperopia
HY Kroes (Speaker)
24 Sept 2024
Activity: Talk or presentation › Oral presentation › Academic
Timing of cerebral damage in molybdenum cofactor deficiency: a meta-analysis of case reports
van Hasselt, P. (Speaker), Ferreira, E. (Speaker), Hofstede, F. (Speaker), Siepel, H. (Speaker), Lichtenbelt, K. (Speaker), Pistorius, L. (Speaker), Wamelink, M. M. C. (Speaker), de Sain-van der Velden, M. (Speaker), Nikkels, P. (Speaker), Lequin, M. (Speaker), de Vries, L. (Speaker) & van der Crabben, S. (Speaker)
3 Sept 2024 → 6 Sept 2024
Activity: Talk or presentation › Oral presentation › Academic

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Onderzoek naar genetisch nierfalen bij jonge mensen
van Eerde, A. (Interviewee), Slaats, G. (Contributor), Lilien, M. (Contributor) & Saunier, S. (Interviewee)
5 Oct 2023
Activity: Other › Types of Public engagement and outreach - Media article or participation

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A genome control map for the RNA Polymerase II Holoenzyme
Holstege, FCP (Recipient), 2001
Prize: Prize (including medals and awards)
An inflammasome genome screen to detect novel disease genes in hereditary autoinflammatory disorders
van Gijn, Marielle (Recipient), 2010
Prize: Prize (including medals and awards)
Complexe genen van belang voor epilepsie
Koeleman, Bobby (Recipient), 2005
Prize: Prize (including medals and awards)

Expertisecentra zeldzame aandoeningen delen hun kennis - Connect
van der Ent, C., Lindemans, C., van Eerde, A. & Breugem, C.
10/03/17
1 Media contribution
Press/Media: Public Engagement Activities
Interview over borstkanker erfelijkheidsonderzoek bij Turkse en Marokkaanse borstkanker patiënten
MGEM Ausems
30/09/16
1 Media contribution
Press/Media: Public Engagement Activities
Interview
MGEM Ausems
1/09/16
1 Media contribution
Press/Media: Public Engagement Activities

Collaborations and top research areas from the last five years