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Margot Reijnders

20182020

Research activity per year

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  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z. C., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., Short, P. J., Torene, R. I., de Boer, E., Danecek, P., Gardner, E. J., Huang, N., Lord, J., Martincorena, I., Pfundt, R., Reijnders, M. R. F. & 14 others, Yeung, A., Yntema, H. G., Vissers, L. E. L. M., Juusola, J., Wright, C. F., Brunner, H. G., Firth, H. V., FitzPatrick, D. R., Barrett, J. C., Hurles, M. E., Gilissen, C., Retterer, K., Deciphering, D. E. V. & Deciphering Developmental Disorders Study, 29 Oct 2020, In: Nature. 586, 7831, p. 757-+ 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Germline AGO2 mutations impair RNA interference and human neurological development

    Lessel, D., Zeitler, D. M., Reijnders, M. R. F., Kazantsev, A., Nia, F. H., Bartholomaus, 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. & 30 others, 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., Luttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Lohner, K., Rump, P., Dias, K. R., Evans, C. A. & Andrews, P. I., 16 Nov 2020, In: Nature Communications. 11, 1, 14 p., 5797.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Van Allen, M., Gronborg, S., Mercier, S., Kury, S. & 32 others, Bezieau, S., Pasquier, L., Raynaud, M., Afenjar, A., de Villemeur, T. B., Keren, B., Desir, J., Van Maldergem, L., Marangoni, M., Dikow, N., Koolen, D. A., VanHasselt, P. M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C. F., Lopez-Otin, C., Santiago-Fernandez, O., Fernandez-Jaen, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Mercimek-Andrews, S., Undiagnosed Diseases Network & Reijnders, M., 15 Jan 2020, In: Biological Psychiatry. 87, 2, p. 100-112 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Castilla-Vallmanya, L., Selmer, K. K., Dimartino, C., Rabionet, R., Blanco-Sanchez, B., Yang, S., Reijnders, M. R. F., van Essen, A. J., Oufadem, M., Vigeland, M. D., Stadheim, B., Houge, G., Cox, H., Kingston, H., Clayton-Smith, J., Innis, J. W., Iascone, M., Cereda, A., Gabbiadini, S., Chung, W. K. & 32 others, Sanders, V., Charrow, J., Bryant, E., Millichap, J., Vitobello, A., Thauvin, C., Mau-Them, F. T., Faivre, L., Lesca, G., Labalme, A., Rougeot, C., Chatron, N., Sanlaville, D., Christensen, K. M., Kirby, A., Lewandowski, R., Gannaway, R., Aly, M., Lehman, A., Clarke, L., Graul-Neumann, L., Zweier, C., Lessel, D., Lozic, B., Aukrust, I., Peretz, R., Stratton, R., Smol, T., Dieux-Coeslier, A., Meira, J., Care4Rare Canada Consortium & Undiagnosed Diseases Network, 1 Jul 2020, In: Genetics in Medicine. 22, 7, p. 1215-1226 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

    Diets, I. J., van der Donk, R., Baltrunaite, K., Waanders, E., Reijnders, M. R. F., Dingemans, A. J. M., Pfundt, R., Vulto-van Silfhout, A. T., Wiel, L., Gilissen, C., Thevenon, J., Perrin, L., Afenjar, A., Nava, C., Keren, B., Bartz, S., Peri, B., Beunders, G., Verbeek, N., van Gassen, K. & 18 others, Thiffault, I., Cadieux-Dion, M., Huerta-Saenz, L., Wagner, M., Konstantopoulou, V., Vodopiutz, J., Griese, M., Boel, A., Callewaert, B., Brunner, H. G., Kleefstra, T., Hoogerbrugge, N., de Vries, B. B. A., Hwa, V., Dauber, A., Hehir-Kwa, J. Y., Kuiper, R. P. & Jongmans, M. C. J., 4 Apr 2019, In: American Journal of Human Genetics. 104, 4, p. 758-766 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access