A. (Aafke) Engwerda, BSc

Faculteit Medische Wetenschappen/UMCG

Telefoon:

E-mail:

a.engwerda umcg.nl

ORCID Research Portal

Publicaties

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 blz.

Onderzoeksoutput

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: Letter › › 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 ›

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Levy, J., Schell, B., Nasser, H., Rachid, M., Ruaud, L., Couque, N., Callier, P., Faivre, L., Marle, N., Engwerda, A., van Ravenswaaij-Arts, C. M. A., Plutino, M., Karmous-Benailly, H., Benech, C., Redon, S., Boute, O., Boudry Labis, E., Rama, M., Kuentz, P., Assoumani, J., & 4 anderenMaldergem, L. V., Dupont, C., Verloes, A. & Tabet, A-C., 1-jul.-2021, In: Clinical Genetics. 9 blz.

Onderzoeksoutput › › peer review

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature 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., nov.-2021, In: European Journal of Human Genetics. 29, blz. 1669-1676 8 blz.

Onderzoeksoutput › › peer review

Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

Engwerda, A., Meijer, S. E., Bouman, P., de Souza, N. F. S., Frentz, B., Flapper, B. C. T., Corsten-Janssen, N., Gerkes, E. H., Swertz, M. A., Plantinga, M., Dijkhuizen, T., Kerstjens-Frederikse, W. S. & van Ravenswaaij-Arts, C. M. A., dec.-2020, In: European Journal of Human Genetics. 28, SUPPL 1, blz. 456-457 2 blz.

Onderzoeksoutput ›

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