Floris Hofstede

Research activity per year

Side activities

No side activities

25 Article

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E. H., van Jaarsveld, R. H., Oegema, R., van Gassen, K. L. I., & 40 othersHolwerda, S. J. B., Barakat, T. S., Bouman, A., van Slegtenhorst, M., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J-H., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R. & Kindler, S., 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1206-1221 16 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., Santra, S., De Laet, C., Goyens, P. J., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Gissen, P., Bierau, J., van Hasselt, P. M., Wilcox, G., Morris, A. A. M., Jameson, E. A., & 15 othersde la Parra, A., Arias, C., Garcia, M. I., Cornejo, V., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G., Huijbregts, S. C. J. & van Spronsen, F. J., Sept 2022, In: Journal of Inherited Metabolic Disease. 45, 5, p. 952-962 11 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
7 Downloads (Pure)
Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome
VanSickle, E. A., Michael, J., Bachmann, A. S., Rajasekaran, S., Prokop, J. W., Kuzniecky, R., Hofstede, F. C., Steindl, K., Rauch, A., Lipson, M. H. & Bupp, C. P., Nov 2021, In: American Journal of Medical Genetics. Part A. 185, 11, p. 3485-3493 9 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
6 Downloads (Pure)
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y. H., Stong, N., Fiala, E., Willing, M., Pfundt, R., Kleefstra, T., Cho, M. T., McLaughlin, H., Rosello Piera, M., Orellana, C., Martínez, F., Caro-Llopis, A., & 30 othersMonfort, S., Roscioli, T., Nixon, C. Y., Buckley, M. F., Turner, A., Jones, W. D., van Hasselt, P. M., Hofstede, F. C., van Gassen, K. L. I., Brooks, A. S., van Slegtenhorst, M. A., Lachlan, K., Sebastian, J., Madan-Khetarpal, S., Sonal, D., Sakkubai, N., Thevenon, J., Faivre, L., Maurel, A., Petrovski, S., Krantz, I. D., Tarpinian, J. M., Rosenfeld, J. A., Lee, B. H., Adams, D. R., Alejandro, M. E., Allard, P., Azamian, M. S., Bacino, C. A. & Balasubramanyam, A., 3 Jan 2019, In: American Journal of Human Genetics. 104, 1, p. 164-178 15 p.
Research output: Contribution to journal › Article › Academic › peer-review
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study
Huijbregts, S. C. J., Bosch, A. M., Simons, Q. A., Jahja, R., Brouwers, M. C. G. J., De Sonneville, L. M. J., De Vries, M. C., Hofstede, F. C., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Rubio-Gozalbo, M. E., Van der Meere, J. J., Van der Ploeg, A. T. & Van Spronsen, F. J., Sept 2018, In: Molecular Genetics and Metabolism. 125, 1-2, p. 96-103 8 p.
Research output: Contribution to journal › Article › Academic › peer-review

11 Participation in conference
11 Participation in workshop, seminar, course
1 Invited talk
1 Oral presentation

Timing of cerebral damage in molybdenum cofactor deficiency: a meta-analysis of case reports
Peter van Hasselt (Speaker), Elise Ferreira (Speaker), Floris Hofstede (Speaker), Hanneke Siepel (Speaker), Klaske Lichtenbelt (Speaker), LR Pistorius (Speaker), Mirjam M C Wamelink (Speaker), Monique de Sain-van der Velden (Speaker), Peter Nikkels (Speaker), Maarten Lequin (Speaker), Linda de Vries (Speaker) & Saskia van der Crabben (Speaker)
3 Sept 2024 → 6 Sept 2024
Activity: Talk or presentation › Oral presentation › Academic

File
Symposium Dutch Academy of Childhood Disability: revalidatie of stimulatie?
FC Hofstede (Participant)
15 Oct 2021
Activity: Participating in or organising an event › Participation in conference › Academic
HIMMS 21 - Health 2.0
FC Hofstede (Participant)
10 Jun 2021
Activity: Participating in or organising an event › Participation in conference › Professional
Insights Symposium
FC Hofstede (Invited speaker)
29 May 2021
Activity: Participating in or organising an event › Participation in conference › Academic
ACP training
FC Hofstede (Participant)
27 May 2021
Activity: Participating in or organising an event › Participation in workshop, seminar, course › Academic

Amsterdam UMC, UMCG, UMC Utrecht en het Prinses Máxima Centrum voor kinderoncologie ondertekenen samenwerkingsovereenkomst
FC Hofstede
20/12/20
1 Media contribution
Press/Media: Expert Comment
Klaar voor de tweede golf?
FC Hofstede
9/07/20
1 Media contribution
Press/Media: Expert Comment
Centrum voor ontwikkelingsachterstand "Gina kan haar leeftijdsgenoten vaak niet bijbenen
FC Hofstede
1/12/18
1 Media contribution
Press/Media: Public Engagement Activities
Micha (4) verbindt zorg, onderzoek en onderwijs
FC Hofstede
1/12/18
1 Media contribution
Press/Media: Public Engagement Activities
De kracht van de acht: de umc - cmio’s als ambassadeurs en bruggenbouwers
FC Hofstede
1/07/18
1 Media contribution
Press/Media: Public Engagement Activities

Floris Hofstede

Personal profile

Side activities

Collaborations and top research areas from the last five years

Dive into details

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Timing of cerebral damage in molybdenum cofactor deficiency: a meta-analysis of case reports

Symposium Dutch Academy of Childhood Disability: revalidatie of stimulatie?

HIMMS 21 - Health 2.0

Insights Symposium

ACP training

Amsterdam UMC, UMCG, UMC Utrecht en het Prinses Máxima Centrum voor kinderoncologie ondertekenen samenwerkingsovereenkomst

Klaar voor de tweede golf?

Centrum voor ontwikkelingsachterstand "Gina kan haar leeftijdsgenoten vaak niet bijbenen

Micha (4) verbindt zorg, onderzoek en onderwijs

De kracht van de acht: de umc - cmio’s als ambassadeurs en bruggenbouwers

Floris Hofstede

Personal profile

Side activities

Collaborations and top research areas from the last five years

Research output

Activities

Press/Media