Projects per year
Collaborations and top research areas from the last five years
Profiles
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Mariëlle Alders
- Human Genetics - Other Academic Staff
- Affiliatie UvA
- ACS - Pulmonary hypertension & thrombosis - MD-PhD
- Amsterdam Reproduction & Development (AR&D) - MD-PhD
Person: Academic
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Anneloor ten Asbroek
- Human Genetics - Assistant Professor
- Affiliatie UvA
- ANS - Complex Trait Genetics - Assistant Professor
- Amsterdam Reproduction & Development (AR&D) - Assistant Professor
Person: Academic
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Marieke Baars
- Human Genetics - Medical Specialist
- Affiliatie UvA
- Amsterdam Cardiovascular Sciences
Person: Academic
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CRADLE: Genomic sequencing in the Dutch newborn screening program: public and stakeholder perspectives
Smits, S. (Principal investigator), Henneman, L. (Principal investigator), Rigter, T. (CoPI), Rodenburg, W. (CoPI) & Onstwedder, S. M. (Other)
15/04/2024 → 14/04/2028
Project: Research
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PLaisTICITY. Axon Initial Segment plasticity: unravelling the mechanisms that control neuronal excitability
Fréal, A. (Principal investigator)
01/01/2024 → 31/12/2028
Project: Research
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Identifying genetic factors that determine responsiveness to therapeutic HIF2a pathway inactivation in Birt-Hogg-Dubé syndrome-associated renal cell carcinoma
Johnson, F. F. (Principal investigator) & Wolthuis, R. (Staff)
01/10/2022 → 30/09/2025
Project: Research
Research output
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A case of lipoprotein glomerulopathy due to the pathogenic APOE Las Vegas variant c.509C>A: p. (Ala170Asp)
Mulder, J. W. C. M., ‘t Hart, N., Mulder, M. T., Zuurbier, L. & Roeters van Lennep, J. E., 1 Jan 2025, In: Journal of clinical lipidology. 19, 1, p. 183-187 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
A compendium of human gene functions derived from evolutionary modelling
Feuermann, M., Mi, H., Gaudet, P., Muruganujan, A., Lewis, S. E., Ebert, D., Mushayahama, T., Westerfield, M., Ruzicka, L., Ramachandran, S., Zorn, A., Ponferrada, V., James-Zorn, C., Fisher, M., Raciti, D., Diamantakis, S., Chan, J., Zaru, R., Warner, K. & Tyagi, N. & 22 others, , 2025, (E-pub ahead of print) In: Nature. 244.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
A rare triplication of 16p11.2: Unravelling the genomic complexity and review of the literature
van der Laan, L., Kleinendorst, L., Haagmans, M. A., Roquas, L., van der Smagt, J. J., Koop, K., Henneman, P. & van Haelst, M. M., 1 Jun 2025, In: European journal of medical genetics. 75, 105013.Research output: Contribution to journal › Article › Academic › peer-review
Open Access
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Health Council of the Netherlands. Neonatale screening op ernstige afweerstoornissen anders dan SCID. The Hague; publication no. 2025/01.
Henneman, L. (Consultant)
20 Feb 2025Activity: Consultancy › Academic
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Society for Neuroscience 2024
Riga, D. (Speaker)
5 Oct 2024Activity: Talk or presentation › Invited talk › Academic
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Health Council of the Netherlands. Neonatal screening for OCTN2 deficiency. The Hague: Health Council of the Netherlands, 2024; publication no. 2024/11.
Henneman, L. (Consultant)
1 Jul 2024Activity: Consultancy › Academic
Prizes
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Alzheimer Research Award 2020 Hans und Ilse Breuerstiftung
Holstege, H. (Recipient), 2020
Prize › Academic
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Press/Media
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Waar ligt de grens bij het selecteren van embryo's?
08/02/2025
1 Media contribution
Press/Media: interview
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Epigenetica laat ons trauma’s door kindermishandeling beter begrijpen
01/12/2021
1 item of Media coverage
Press/Media: Press / Media
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How can society regulate and afford CRISPR therapies?
29/07/2021
1 Media contribution
Press/Media: exportcomment
Datasets
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Additional file 8: of Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics
Krzyzewska, I. M. (Contributor), Alders, M. (Contributor), Maas, S. M. (Contributor), Bliek, J. (Contributor), Venema, A. (Contributor), Henneman, P. (Contributor), Rezwan, F. I. (Contributor), Lip, K. V. D. (Contributor), Mul, A. N. (Contributor), Mackay, D. J. G. (Contributor) & Mannens, M. M. A. M. (Contributor), Figshare, 2019
DOI: 10.6084/m9.figshare.7878923, https://springernature.figshare.com/articles/Additional_file_8_of_Genome-wide_methylation_profiling_of_Beckwith-Wiedemann_syndrome_patients_without_molecular_confirmation_after_routine_diagnostics/7878923
Dataset
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Additional file 2: Table S1. of Peripheral blood methylation profiling of female Crohn’s disease patients
Li Yim, A. Y. F. (Contributor), Duijvis, N. W. (Creator), Zhao, J. (Creator), de Jonge, W. J. (Contributor), D’Haens, G. R. A. M. (Creator), Mannens, M. M. A. M. (Creator), Mul, A. N. P. M. (Creator), te Velde, A. A. (Contributor) & Henneman, P. (Creator), Figshare, 2016
DOI: 10.6084/m9.figshare.c.3620078_d7, https://springernature.figshare.com/articles/dataset/Additional_file_2_Table_S1_of_Peripheral_blood_methylation_profiling_of_female_Crohn_s_disease_patients/4391192
Dataset
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Prenatal NeuN+ neurons of Down Syndrome display aberrant integrative DNA methylation and gene expression profiles. Supplementary data
Henneman, P. (Creator), Mul, A. N. (Creator), Li Yim, A. Y. (Creator), Krzyzewska, I. M. (Creator), Alders, M. (Creator), Adelia, A. (Creator), Mizee, M. R. (Creator) & Mannens, M. M. (Creator), Taylor & Francis, 2022
DOI: 10.25402/epi.19290170.v1, https://tandf.figshare.com/articles/dataset/Prenatal_NeuN_neurons_of_Down_Syndrome_display_aberrant_integrative_DNA_methylation_and_gene_expression_profiles_Supplementary_data/19290170/1
Dataset