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University Medical Center Groningen

dr. A. (Aafke) Engwerda

Publicaties

Publicaties

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 blz., 5239482.

Onderzoeksoutput › › 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., mrt.-2026, In: European Journal of Human Genetics. 34, blz. 333-339 7 blz.

Onderzoeksoutput › › 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 blz., e64038.

Onderzoeksoutput › › peer review

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-mrt.-2023, In: Orphanet journal of rare diseases. 18, 1, 13 blz., 60.

Onderzoeksoutput › › 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-mrt.-2023, In: Orphanet journal of rare diseases. 18, 1, 19 blz., 59.

Onderzoeksoutput › › 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-mrt.-2023, In: Orphanet journal of rare diseases. 18, 1, 19 blz., 68.

Onderzoeksoutput › › 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, blz. 138–141 4 blz.

Onderzoeksoutput › › 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, blz. 366-366 1 blz.

Onderzoeksoutput ›

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, blz. 367-367 1 blz.

Onderzoeksoutput ›

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