Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Dive into the research topics where Ludolf Boven is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers
Jansen, M., Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., Dec-2023, In: Journal of cardiovascular translational research. 16, p. 1267–1275 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Citations (Scopus)113 Downloads (Pure) -
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
The European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, Marsili, L., van Lint, F. H. M., Russo, F., van Spaendonck-Zwarts, K. Y., Ader, F., Bichon, M. L., Faivre, L., Houweling, A. C., Isidor, B., Lekanne Deprez, R. H., Cox, M. G. P. J., Wilde, A. A. M., Mazel, B., Mercier, S., Dooijes, D., Millat, G., Nguyen, K., Post, J. G. & Richard, P. & 5 others, , Aug-2023, In: Netherlands Heart Journal. 31, 7-8, p. 300-307 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)121 Downloads (Pure) -
SEPT–GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics
Alimohamed, M. Z., Boven, L. G., van Dijk, K. K., Vos, Y. J., Hoedemaekers, Y. M., van der Zwaag, P. A., Sijmons, R. H., Jongbloed, J. D. H., Sikkema-Raddatz, B. & Westers, H., 30-Jan-2023, In: Gene. 851, 10 p., 146984.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile145 Downloads (Pure) -
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
Jansen, M., Schuldt, M., van Driel, B. O., Schmidt, A. F., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Deprez, R. H. L., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W. & Baas, A. F., 17-Feb-2023, In: International Journal of Molecular Sciences. 24, 4, 12 p., 4031.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile17 Citations (Scopus)129 Downloads (Pure) -
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant
Vansenne, F., Fock, J. M., Stolte-Dijkstra, I., Meiners, L. C., van den Boogaard, M. J. H., Jaeger, B., Boven, L., Vos, Y. J., Sinke, R. J. & Verbeek, D. S., 12-Nov-2022, In: European Journal of Paediatric Neurology. 41, p. 91-98 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Citations (Scopus)194 Downloads (Pure)