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dr. A. (Aafke) Engwerda

Faculty of Medical Sciences

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a.engwerda umcg.nl

ORCID Research Portal

Publications

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

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., Male, A., Bownass, L., Newbury-Ecob, R., Miedzybrodzka, Z., Armstrong, R., Lynch, S. A., Houge, G., Xiong, S., Lalani, S. R., Rosenfeld, J. A., Luna, P. N., Shaw, C. A. & Scott, D. A., 12-Aug-2025, (E-pub ahead of print) In: European Journal of Human Genetics. 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

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

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)

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

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

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

The role of TBX18 in congenital heart defects in humans not confirmed

Engwerda, A., Abbott, K. M., Hitzert, M. M., van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., Feb-2023, In: European Journal of Human Genetics. 31, p. 138–141 4 p.

Research output: Contribution to journal › Letter (Research letter) › Academic › peer-review

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Engwerda, A., Leenders, E. K. S. M., Frentz, B., Terhal, P. A., Lohner, K., De Vries, B. B. A., Dijkhuizen, T., Vos, Y. J., Rinne, T., Van den Berg, M. P., Roofthooft, M. T. R., Deelen, P., van Ravenswaaij-Arts, C. M. A. & Kerstjens-Frederikse, W. S., Apr-2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 366-366 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

Unravelling terminal 6p deletions with the help of social media

Rraku, E., Engwerda, A., Geurink, J., Monsma, L., Bouman, P., Swertz, M. A., Dijkhuizen, T. & van Ravenswaaij-Arts, C. M. A., Apr-2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 367-367 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

All (15) publications

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