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Research Output

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Arts, P., Simons, A., AlZahrani, M. S., Yilmaz, E., AlIdrissi, E., van Aerde, K. J., Alenezi, N., AlGhamdi, H. A., AlJubab, H. A., Al-Hussaini, A. A., AlManjomi, F., Alsaad, A. B., Alsaleem, B., Andijani, A. A., Asery, A., Ballourah, W., Bleeker-Rovers, C. P., van Deuren, M., van der Flier, M., Gerkes, E. H. & 32 others, Gilissen, C., Habazi, M. K., Hehir-Kwa, J. Y., Henriet, S. S., Hoppenreijs, E. P., Hortillosa, S., Kerkhofs, C. H., Keski-Filppula, R., Lelieveld, S. H., Lone, K., MacKenzie, M. A., Mensenkamp, A. R., Moilanen, J., Nelen, M., ten Oever, J., Potjewijd, J., van Paassen, P., Schuurs-Hoeijmakers, J. H. M., Simon, A., Stokowy, T., van de Vorst, M., Vreeburg, M., Wagner, A., van Well, G. T. J., Zafeiropoulou, D., Zonneveld-Huijssoon, E., Veltman, J. A., van Zelst-Stams, W. A. G., Faqeih, E. A., van de Veerdonk, F. L., Netea, M. G. & Hoischen, A., 17 Jun 2019, In : Genome Medicine. 11, p. 1-15 15 p., 38.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic profiling of basal cell carcinomas detects postzygotic mosaicism in basal cell naevus syndrome

Reinders, M. G. H. C., Cosgun, B., Gijezen, L. M. C., van Oosterhoud, C. N., Kelleners-Smeets, N. W. J., Vermander, E., Vreeburg, M., Steijlen, P. M., Mosterd, K. & van Geel, M., Sep 2019, In : British Journal of Dermatology. 181, 3, p. 587-591 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Schnitzler's syndrome - a novel hypothesis of a shared pathophysiologic mechanism with Waldenstrom's disease

van Leersum, F. S., Potjewijd, J., van Geel, M., Steijlen, P. M. & Vreeburg, M., 22 Jun 2019, In : Orphanet Journal of Rare Diseases. 14, 4 p., 151.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Open Access

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature

Traschuetz, A., van Gaalen, J., Oosterloo, M., Vreeburg, M., Kamsteeg, E-J., Deininger, N., Riess, O., Reimold, M., Haack, T., Schoels, L., van de Warrenburg, B. P. & Synofzik, M., May 2019, In : Parkinsonism & Related Disorders. 62, p. 215-220 6 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Straub, J., Konrad, E. D. H., Gruner, J., Toutain, A., Bok, L. A., Cho, M. T., Crawford, H. P., Dubbs, H., Douglas, G., Jobling, R., Johnson, D., Krock, B., Mikati, M. A., Nesbitt, A., Nicolai, J., Phillips, M., Poduri, A., Ortiz-Gonzalez, X. R., Powis, Z., Santani, A. & 9 others, Smith, L., Stegmann, A. P. A., Stumpel, C., Vreeburg, M., Fliedner, A., Gregor, A., Sticht, H., Zweier, C. & Deciphering Dev Disorders Study, 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 44-57 14 p.

Research output: Contribution to journalArticleAcademicpeer-review