Evelien Zonneveld-Huijssoon

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12 Article
1 Meeting Abstract

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
Hebert, A., Simons, A., Schuurs-Hoeijmakers, J. H. M., Koenen, H. J. P. M., Zonneveld-Huijssoon, E., Henriet, S. S. V., Schatorjé, E. J. H., Hoppenreijs, E. P. A. H., Leenders, E. K. S. M., Janssen, E. J. M., Santen, G. W. E., de Munnik, S. A., van Reijmersdal, S. V., van Rijssen, E., Kersten, S., Netea, M. G., Smeets, R. L., van de Veerdonk, F. L., Hoischen, A. & van der Made, C. I., 17-Oct-2022, In: eLife. 11, 24 p., e78469.
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De novoARHGEF9missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum ofARHGEF9disease in females
Scala, M., Zonneveld-Huijssoon, E., Brienza, M., Mecarelli, O., van der Hout, A. H., Zambrelli, E., Turner, K., Zara, F., Peron, A., Vignoli, A. & Striano, P., Mar-2021, In: Neurogenetics. 22, p. 87-94 8 p.
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4 Citations (Scopus)

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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers
the Genetics First for Primary Immunodeficiency Disorders Consortium, Elsink, K., Huibers, M. M. H., Hollink, I. H. I. M., Simons, A., Zonneveld-Huijssoon, E., van der Veken, L. T., Leavis, H. L., Henriet, S. S. V., van Deuren, M., van de Veerdonk, F. L., Potjewijd, J., Berghuis, D., Dalm, V. A. S. H., Vermont, C. L., van de Ven, A. A. J. M., Lambeck, A. J. A., Abbott, K. M., van Hagen, P. M., de Bree, G. J., & 4 othersKuijpers, T. W., Frederix, G. W. J., van Gijn, M. E. & van Montfrans, J. M., 21-Dec-2021, In: Frontiers in Immunology. 12, 11 p., 780134.
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6 Citations (Scopus)

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National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
Elsink, K., Huibers, M. M. H., Hollink, I. H. I. M., van der Veken, L. T., Ernst, R. F., Simons, A., Zonneveld-Huijssoon, E., van der Hout, A. H., Abbott, K. M., Hoischen, A., Pieterse, M., Kuijpers, T. W., van Montfrans, J. M. & van Gijn, M. E., Jan-2021, In: European Journal of Human Genetics. 1, p. 20-28 9 p.
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5 Citations (Scopus)

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Germline AGO2 mutations impair RNA interference and human neurological development
Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Hassani Nia, F., Bartholomäus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E-S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H. H., Cham, B. W. M., & 47 othersKovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Lüttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Löhner, K., Rump, P., Dias, K-R., Evans, C-A., Andrews, P. I., Roscioli, T., Brunner, H. G., Chijiwa, C., Lewis, M. E. S., Jamra, R. A., Dyment, D. A., Boycott, K. M., Stegmann, A. P. A., Kubisch, C., Tan, E-C., Mirzaa, G. M., McWalter, K., Kleefstra, T., Pfundt, R., Ignatova, Z., Meister, G. & Kreienkamp, H-J., 16-Nov-2020, In: Nature Communications. 11, 1, 14 p., 5797.
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30 Citations (Scopus)

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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
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
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
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
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

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study
Evelien Huijssoon
17/10/2022
1 Media contribution
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Evelien Zonneveld-Huijssoon

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Dive into details

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

De novoARHGEF9missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum ofARHGEF9disease in females

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

Germline AGO2 mutations impair RNA interference and human neurological development

Additional file 6: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Additional file 1: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Additional file 5: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Additional file 2: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Additional file 3: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

Evelien Zonneveld-Huijssoon

Network

Research output

Datasets

Press/Media