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Margot Reijnders

20182021

Research activity per year

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  • Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

    Kummeling, J., Stremmelaar, D. E., Raun, N., Reijnders, M. R. F., Willemsen, M. H., Ruiterkamp-Versteeg, M., Schepens, M., Man, C. C. O., Gilissen, C., Cho, M. T., McWalter, K., Sinnema, M., Wheless, J. W., Simon, M. E. H., Genetti, C. A., Casey, A. M., Terhal, P. A., van Der Smagt, J. J., van Gassen, K. L., Joset, P., & 23 othersBahr, A., Steindl, K., Rauch, A., Keller, E., Raas-Rothschild, A., Koolen, D. A., Agrawal, P. B., Hoffman, T. L., Powell-Hamilton, N. N., Thiffault, I., Engleman, K., Zhou, D., Bodamer, O., Hoefele, J., Riedhammer, K. M., Schwaibold, E. M. C., Tasic, V., Schubert, D., Top, D., Pfundt, R., Higgs, M. R., Kramer, J. M. & Kleefstra, T., Jun 2021, In: Molecular Psychiatry. 26, 6, p. 2013-2024 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    16 Citations (Web of Science)
  • PURA-Related Developmental and Epileptic Encephalopathy

    Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denomme-Pichon, A. S., Coubes, C., Larson, A., & 31 othersEsser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C. & PURA study group, 1 Dec 2021, In: Neurology. Genetics . 7, 6, 14 p., e613.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    1 Citation (Web of Science)
  • 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 othersYeung, 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

    93 Citations (Web of Science)
  • 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., & 31 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., 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. & Kreienkamp, H-J., 16 Nov 2020, In: Nature Communications. 11, 1, 14 p., 5797.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    16 Citations (Web of Science)
  • 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., & 33 othersBezieau, 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. & Gecz, J., 15 Jan 2020, In: Biological Psychiatry. 87, 2, p. 100-112 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    20 Citations (Web of Science)