dr. T. Dijkhuizen

Faculty of Medical Sciences

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t.dijkhuizen umcg.nl

Research Portal

Publications

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

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

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

Breet, H., Vos, Y. J., Dijkhuizen, T., Voorbij-Vierstra, C. L., Bolling, M. C. & van den Akker, P. C., Mar-2023, In: American Journal of Medical Genetics, Part A. p. 896-898 3 p.

Research output: Contribution to journal › 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

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, p. 1669-1676 8 p.

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

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

in't Groen, S. L. M., de Faria, D. O. S., Iuliano, A., van den Hout, J. M. P., Douben, H., Dijkhuizen, T., Cassiman, D., Witters, P., Romero, M.-A. B., de Klein, A., Somers-Bolman, G. M., Saris, J. J., Hoefsloot, L. H., van der Ploeg, A. T., Bergsma, A. J. & Pijnappel, W. W. M. P., 12-Jun-2020, In: Molecular therapy-Methods & clinical development. 17, p. 337-348 12 p.

Research output: Contribution to journal › Article › Academic › 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, p. 456-457 2 p.

Research output: Contribution to journal › Meeting Abstract › Academic

NGS expanded carrier screening in the Netherlands: initial implementation results

Abbott, K. M., Dijkhuizen, T., Veldhuis, M., Schuurmans, J., van Langen, I. & Sinke, R. J., Jul-2019, In: European Journal of Human Genetics. 27, p. 13-13 1 p.

Research output: Contribution to journal › Meeting Abstract › Academic

All (83) publications

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