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., mrt-2021, In: Neurogenetics. 22, blz. 87-94 8 blz.

Onderzoeksoutput › Academic › peer review

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 anderen, Kuijpers, T. W., Frederix, G. W. J., van Gijn, M. E. & van Montfrans, J. M., 21-dec-2021, In: Frontiers in Immunology. 12, 11 blz., 780134.

Onderzoeksoutput › Academic › peer review

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, blz. 20-28 9 blz.

Onderzoeksoutput › Academic › peer review

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 anderen, Kovacevic, 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 blz., 5797.

Onderzoeksoutput › Academic › peer review

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

Shinar, Y., Ceccherini, I., Rowczenio, D., Aksentijevich, I., Arostegui, J., Ben-Chetrit, E., Boursier, G., Gattorno, M., Hayrapetyan, H., Ida, H., Kanazawa, N., Lachmann, H. J., Mensa-Vilaro, A., Nishikomori, R., Oberkanins, C., Obici, L., Ohara, O., Ozen, S., Sarkisian, T., Sheils, K. & 4 anderen, Wolstenholme, N., Zonneveld-Huijssoon, E., van Gijn, M. E. & Touitou, I., 1-apr-2020, In: Clinical Chemistry. 66, 4, blz. 525-536 12 blz.

Onderzoeksoutput › Academic › peer review