Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Research output
-
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) -
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
Volpi, J., Zhao, X., Owen, N., Evans, T., Holder-Espinasse, M., Lahiri, N., Sherlock, E., Poke, G., Breckpot, J., Devriendt, K., Cools, B., Brusco, A., Ferrero, G. B., Grosso, E., Vasudevan, P., Loddo, S., Novelli, A., Digilio, M. C., Engwerda, A. & Hitzert, M. & 13 others, , Mar-2026, In: European Journal of Human Genetics. 34, p. 333-339 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)6 Downloads (Pure) -
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views
Rraku, E., Engwerda, A., Medina, T. D., Swertz, M. A., Johansson, L. F., van Ravenswaaij-Arts, C. M. A. & Christiaans, I., Jul-2025, In: American Journal of Medical Genetics. Part A. 197, 7, 9 p., e64038.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile64 Downloads (Pure) -
The Chromosome 6 Project: a proof of concept for using parent-reported phenotypes to unravel the phenotypic spectrum of chromosome aberrations
Engwerda, A., 2024, [Groningen]: University of Groningen. 195 p.Research output: Thesis › Thesis fully internal (DIV)
Open AccessFile2135 Downloads (Pure) -
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
Engwerda, A., Frentz, B., Rraku, E., de Souza, N. F. S., Swertz, M. A., Plantinga, M., Kerstjens-Frederikse, W. S., Ranchor, A. V. & van Ravenswaaij-Arts, C. M. A., 19-Mar-2023, In: Orphanet journal of rare diseases. 18, 1, 13 p., 60.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)185 Downloads (Pure)
Datasets
-
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
-
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