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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Collaborations and top research areas from the last five years
Research output
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Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions
Rraku, E., Medina, T. D., van Ravenswaaij-Arts, C. M. A., Slofstra, M. K., Swertz, M. A., Dijkhuizen, T., Johansson, L. F. & Engwerda, A., Jan-2026, In: Human mutation. 2026, 1, 12 p., 5239482.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene
Ginjaar, I. B., Kriek, M., Hoffer, M. J. V., Oegema, R., van Binsbergen, E., Diderich, K. E. M., van Zutven, L. J. C. M., Duijkers, F. A. M., Knegt, A. C., Erasmus, C. E., de Leeuw, N., Verheij, J. B. G. M., Dijkhuizen, T. & van Duyvenvoorde, H. A., Sept-2025, In: Neuromuscular disorders. 54, 8 p., 106219.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)2 Downloads (Pure) -
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum
Grutters, L. A., Klein Wassink-Ruiter, J. S., Dijkhuizen, T., Nijenhuis, H. P., Jongbloed, J. D. H. & Herkert, J. C., Oct-2023, In: Circulation: Genomic and Precision Medicine. 16, 5, p. 493-495 3 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)211 Downloads (Pure) -
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Engwerda, A., Kerstjens-Frederikse, W. S., Corsten-Janssen, N., Dijkhuizen, T. & van Ravenswaaij-Arts, C. M. A., 19-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 19 p., 59.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile12 Citations (Scopus)217 Downloads (Pure) -
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Rraku, E., Kerstjens-Frederikse, W. S., Swertz, M. A., Dijkhuizen, T., van Ravenswaaij-Arts, C. M. A. & Engwerda, A., 24-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 19 p., 68.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)213 Downloads (Pure)
Datasets
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Additional file 1 of The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Rraku, E. (Creator), Kerstjens, M. (Creator), Swertz, M. A. (Creator), Dijkhuizen, T. (Creator), Engwerda, A. (Creator) & Van Ravenswaaij-Arts, C. M. A. (Contributor), figshare, 13-Aug-2024
DOI: 10.6084/m9.figshare.26577497.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_phenotypic_spectrum_of_terminal_and_subterminal_6p_deletions_based_on_a_social_media-derived_cohort_and_literature_review/26577497/1
Dataset
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Additional file 1 of The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Engwerda, A. (Creator), Kerstjens, M. (Creator), Corsten-Janssen, N. (Creator), Dijkhuizen, T. (Creator) & Van Ravenswaaij-Arts, C. M. A. (Contributor), figshare, 13-Aug-2024
DOI: 10.6084/m9.figshare.26575985, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_phenotypic_spectrum_of_terminal_6q_deletions_based_on_a_large_cohort_derived_from_social_media_and_literature_a_prominent_role_for_DLL1/26575985
Dataset