Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Dive into the research topics where Evelien Zonneveld-Huijssoon is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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AA amyloidosis in a father and daughter as complication of PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Brunger, A. F., Nienhuis, H. L. A., Bijzet, J., Zonneveld-Huijssoon, E., Sanders, J. S. F., Legger, G. E., Gans, R. O. B. & Hazenberg, B. P. C., 2024, In: Amyloid. 31, 1, 3 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review
Open AccessFile2 Citations (Scopus)42 Downloads (Pure) -
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
members of the Radboud University Medical Center multidisciplinary immune-disease board, Vorsteveld, E. E., Van der Made, C. I., Smeekens, S. P., Schuurs-Hoeijmakers, J. H., Astuti, G., Diepstra, H., Gilissen, C., Hoenselaar, E., Janssen, A., van Roozendaal, K., Engelen, J. S. V., Steyaert, W., Weiss, M. M., Yntema, H. G., Mantere, T., AlZahrani, M. S., van Aerde, K., Derfalvi, B. & Faqeih, E. A. & 22 others, , Nov-2024, In: Clinical Immunology. 268, 17 p., 110375.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)56 Downloads (Pure) -
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
Karimi, K., Mol, M. O., Haghshenas, S., Relator, R., Levy, M. A., Kerkhof, J., McConkey, H., Brooks, A., Zonneveld-Huijssoon, E., Gerkes, E. H., Tedder, M. L., Vissers, L., Salzano, E., Piccione, M., Asaftei, S. D., Carli, D., Mussa, A., Shukarova-Angelovska, E., Trajkova, S. & Brusco, A. & 4 others, , Mar-2024, In: Genetics in Medicine. 26, 3, 14 p., 101041.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile112 Downloads (Pure) -
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S., Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T., Park, S.-M., Jewell, R., Brown, N., Pais, L., Jacquemont, S., Jizi, K., Ravenswaaij-Arts, C. M. A. V., Kroes, H. Y., Stumpel, C. T. R. M. & Ockeloen, C. W. & 84 others, , 8-Aug-2024, In: American Journal of Human Genetics. 111, 8, p. 1626-1642 18 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access4 Citations (Scopus) -
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Buijsse, N., Jansen, F. E., Ockeloen, C. W., van Kempen, M. J. A., Zeidler, S., Willemsen, M. H., Scarano, E., Monticone, S., Zonneveld-Huijssoon, E., Low, K. J., Bayat, A., Sisodiya, S. M., Samanta, D., Lesca, G., de Jong, D., Giltay, J. C., Verbeek, N. E., Kleefstra, T., Brilstra, E. H. & Vlaskamp, D. R. M., Dec-2023, In: Epilepsia Open. 8, 4, p. 1300-1313 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)75 Downloads (Pure)
Datasets
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Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Kerkhofs, C. H. (Contributor), Keski-Filppula, R. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Hehir-Kwa, J. Y. (Contributor), Alsaad, A. B. (Contributor), Mensenkamp, A. R. (Contributor), Hoischen, A. (Contributor), Moilanen, J. (Contributor), Hortillosa, S. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Van Deuren, M. (Contributor), Henriet, S. S. (Contributor), Bleeker-Rovers, C. P. (Contributor), Gilissen, C. (Contributor), Stokowy, T. (Contributor), Hoppenreijs, E. P. (Contributor), Alzahrani, M. S. (Contributor), Veltman, J. A. (Contributor), Faqeih, E. A. (Contributor), Lelieveld, S. H. (Contributor), Van Der Flier, M. (Contributor), Van Paassen, P. (Contributor), Alenezi, N. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor), Netea, M. G. (Contributor), Van Well, G. T. J. (Contributor), Gerkes, E. (Contributor), Vreeburg, M. (Contributor), Al-Hussaini, A. A. (Contributor), Almanjomi, F. (Contributor), Habazi, M. K. (Contributor), Ten Oever, J. (Contributor), Andijani, A. A. (Contributor), Ballourah, W. (Contributor), Lone, K. (Contributor), Aljubab, H. A. (Contributor), Arts, P. (Contributor), Simons, A. (Contributor), Alsaleem, B. (Contributor), MacKenzie, M. A. (Contributor), Alghamdi, H. A. (Contributor), Wagner, A. (Contributor), Van De Veerdonk, F. L. (Contributor), Potjewijd, J. (Contributor), Nelen, M. (Contributor), Zafeiropoulou, D. (Contributor), Van Aerde, K. J. (Contributor), Asery, A. (Contributor), Van De Vorst, M. (Contributor), Alidrissi, E. (Contributor), Yilmaz, E. (Contributor) & Simon, A. (Contributor), University of Groningen, 17-Jun-2019
DOI: 10.6084/m9.figshare.8282177.v1, https://doi.org/10.6084%2Fm9.figshare.8282177.v1
Dataset
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Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Moilanen, J. (Contributor), Veltman, J. A. (Contributor), Alenezi, N. (Contributor), Netea, M. G. (Contributor), Faqeih, E. A. (Contributor), Al-Hussaini, A. A. (Contributor), Yilmaz, E. (Contributor), Alzahrani, M. S. (Contributor), Potjewijd, J. (Contributor), Keski-Filppula, R. (Contributor), Mensenkamp, A. R. (Contributor), Lelieveld, S. H. (Contributor), Henriet, S. S. (Contributor), Hoppenreijs, E. P. (Contributor), Zafeiropoulou, D. (Contributor), Alsaad, A. B. (Contributor), Van Well, G. T. J. (Contributor), Almanjomi, F. (Contributor), Alidrissi, E. (Contributor), MacKenzie, M. A. (Contributor), Lone, K. (Contributor), Gilissen, C. (Contributor), Nelen, M. (Contributor), Simon, A. (Contributor), Alghamdi, H. A. (Contributor), Arts, P. (Contributor), Asery, A. (Contributor), Van Paassen, P. (Contributor), Ballourah, W. (Contributor), Wagner, A. (Contributor), Hortillosa, S. (Contributor), Hoischen, A. (Contributor), Hehir-Kwa, J. Y. (Contributor), Van De Vorst, M. (Contributor), Vreeburg, M. (Contributor), Aljubab, H. A. (Contributor), Simons, A. (Contributor), Stokowy, T. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Habazi, M. K. (Contributor), Kerkhofs, C. H. (Contributor), Gerkes, E. (Contributor), Alsaleem, B. (Contributor), Ten Oever, J. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Van De Veerdonk, F. L. (Contributor), Van Aerde, K. J. (Contributor), Andijani, A. A. (Contributor), Van Deuren, M. (Contributor), Van Der Flier, M. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor) & Bleeker-Rovers, C. P. (Contributor), University of Groningen, 17-Jun-2019
DOI: 10.6084/m9.figshare.8282186.v1, https://doi.org/10.6084%2Fm9.figshare.8282186.v1
Dataset
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Additional file 5: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Zonneveld-Huijssoon, E. (Contributor), Alsaleem, B. (Contributor), Van Deuren, M. (Contributor), Kerkhofs, C. H. (Contributor), Hoppenreijs, E. P. (Contributor), Al-Hussaini, A. A. (Contributor), Simon, A. (Contributor), Alzahrani, M. S. (Contributor), Alidrissi, E. (Contributor), Hoischen, A. (Contributor), Stokowy, T. (Contributor), Ballourah, W. (Contributor), Mensenkamp, A. R. (Contributor), Henriet, S. S. (Contributor), Gilissen, C. (Contributor), Andijani, A. A. (Contributor), Lone, K. (Contributor), Van Well, G. T. J. (Contributor), Hehir-Kwa, J. Y. (Contributor), Alghamdi, H. A. (Contributor), Ten Oever, J. (Contributor), Habazi, M. K. (Contributor), Moilanen, J. (Contributor), Wagner, A. (Contributor), Yilmaz, E. (Contributor), MacKenzie, M. A. (Contributor), Van Aerde, K. J. (Contributor), Lelieveld, S. H. (Contributor), Van De Veerdonk, F. L. (Contributor), Almanjomi, F. (Contributor), Faqeih, E. A. (Contributor), Aljubab, H. A. (Contributor), Alsaad, A. B. (Contributor), Bleeker-Rovers, C. P. (Contributor), Potjewijd, J. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor), Simons, A. (Contributor), Veltman, J. A. (Contributor), Gerkes, E. (Contributor), Hortillosa, S. (Contributor), Van De Vorst, M. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Arts, P. (Contributor), Nelen, M. (Contributor), Zafeiropoulou, D. (Contributor), Vreeburg, M. (Contributor), Asery, A. (Contributor), Van Der Flier, M. (Contributor), Keski-Filppula, R. (Contributor), Van Paassen, P. (Contributor), Alenezi, N. (Contributor) & Netea, M. G. (Contributor), University of Groningen, 17-Jun-2019
DOI: 10.6084/m9.figshare.8282183.v1, https://doi.org/10.6084%2Fm9.figshare.8282183.v1
Dataset
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Additional file 1: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Stokowy, T. (Contributor), Gilissen, C. (Contributor), Hehir-Kwa, J. Y. (Contributor), Zafeiropoulou, D. (Contributor), Simons, A. (Contributor), Alghamdi, H. A. (Contributor), Van Aerde, K. J. (Contributor), Lelieveld, S. H. (Contributor), Van Paassen, P. (Contributor), Simon, A. (Contributor), Van De Veerdonk, F. L. (Contributor), Van Der Flier, M. (Contributor), Mensenkamp, A. R. (Contributor), Van Deuren, M. (Contributor), Al-Hussaini, A. A. (Contributor), Bleeker-Rovers, C. P. (Contributor), Ten Oever, J. (Contributor), Andijani, A. A. (Contributor), Almanjomi, F. (Contributor), Alsaad, A. B. (Contributor), Henriet, S. S. (Contributor), Arts, P. (Contributor), Vreeburg, M. (Contributor), Habazi, M. K. (Contributor), Veltman, J. A. (Contributor), Hoischen, A. (Contributor), Alsaleem, B. (Contributor), Alzahrani, M. S. (Contributor), Alidrissi, E. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Netea, M. G. (Contributor), Wagner, A. (Contributor), Aljubab, H. A. (Contributor), Hortillosa, S. (Contributor), Keski-Filppula, R. (Contributor), Kerkhofs, C. H. (Contributor), Van Well, G. T. J. (Contributor), Faqeih, E. A. (Contributor), Alenezi, N. (Contributor), Lone, K. (Contributor), Ballourah, W. (Contributor), Moilanen, J. (Contributor), Van De Vorst, M. (Contributor), Potjewijd, J. (Contributor), MacKenzie, M. A. (Contributor), Nelen, M. (Contributor), Gerkes, E. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Hoppenreijs, E. P. (Contributor), Yilmaz, E. (Contributor), Asery, A. (Contributor) & Schuurs-Hoeijmakers, J. H. M. (Contributor), University of Groningen, 17-Jun-2019
DOI: 10.6084/m9.figshare.8282171.v1, https://doi.org/10.6084%2Fm9.figshare.8282171.v1
Dataset
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Additional file 2: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Ten Oever, J. (Contributor), Arts, P. (Contributor), Alidrissi, E. (Contributor), Faqeih, E. A. (Contributor), Wagner, A. (Contributor), Van Der Flier, M. (Contributor), Almanjomi, F. (Contributor), Zonneveld-Huijssoon, E. (Contributor), Stokowy, T. (Contributor), Alenezi, N. (Contributor), Netea, M. G. (Contributor), Alghamdi, H. A. (Contributor), Keski-Filppula, R. (Contributor), Simons, A. (Contributor), Bleeker-Rovers, C. P. (Contributor), Habazi, M. K. (Contributor), Hoppenreijs, E. P. (Contributor), Al-Hussaini, A. A. (Contributor), Kerkhofs, C. H. (Contributor), Asery, A. (Contributor), Van Zelst-Stams, W. A. G. (Contributor), Yilmaz, E. (Contributor), Van Deuren, M. (Contributor), Van Aerde, K. J. (Contributor), Simon, A. (Contributor), Gerkes, E. (Contributor), Potjewijd, J. (Contributor), Hoischen, A. (Contributor), Schuurs-Hoeijmakers, J. H. M. (Contributor), Lone, K. (Contributor), Van De Veerdonk, F. L. (Contributor), Gilissen, C. (Contributor), Alsaad, A. B. (Contributor), Andijani, A. A. (Contributor), Van Well, G. T. J. (Contributor), Henriet, S. S. (Contributor), Nelen, M. (Contributor), Van De Vorst, M. (Contributor), Alsaleem, B. (Contributor), Veltman, J. A. (Contributor), Ballourah, W. (Contributor), Van Paassen, P. (Contributor), Vreeburg, M. (Contributor), Mensenkamp, A. R. (Contributor), Moilanen, J. (Contributor), Lelieveld, S. H. (Contributor), Hehir-Kwa, J. Y. (Contributor), MacKenzie, M. A. (Contributor), Alzahrani, M. S. (Contributor), Hortillosa, S. (Contributor), Zafeiropoulou, D. (Contributor) & Aljubab, H. A. (Contributor), University of Groningen, 17-Jun-2019
DOI: 10.6084/m9.figshare.8282174.v1, https://doi.org/10.6084%2Fm9.figshare.8282174.v1
Dataset
Press/Media
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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study
17/10/2022
1 Media contribution
Press/Media: Research › Professional