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Margot Reijnders

20182021

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  • 2021

    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

    17 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
    2 Citations (Web of Science)
  • 2020

    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

    104 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
    19 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

    21 Citations (Web of Science)
  • 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., & 33 othersSanders, 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 & Gordon, C. T., 1 Jul 2020, In: Genetics in Medicine. 22, 7, p. 1215-1226 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    11 Citations (Web of Science)
  • 2019

    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 othersThiffault, 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
    18 Citations (Web of Science)
  • Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

    Nellaker, C., Alkuraya, F. S., Baynam, G., Bernier, R. A., Bernier, F. P. J., Boulangerw, V., Brudno, M., Brunner, H. G., Clayton-Smith, J., Cogne, B., Dawkins, H. J. S., deVries, B. B. A., Douzgou, S., Dudding-Byth, T., Eichler, E. E., Ferlaino, M., Fieggen, K., Firth, H., FitzPatrick, D. R., Gration, D., & 33 othersGroza, T., Haende, M., Hallowel, N., Hamosh, A., Hehir-Kwa, J., Hitz, M-P., Hughes, M., Kini, U., Kleefstra, T., Kooy, R. F., Krawitz, P., Kury, S., Lees, M., Lyon, G. J., Lyonnet, S., Marcadier, J. L., Meyn, S., Moslerova, V., Politei, J. M., Poulton, C. C., Raymond, F. L., Reijnders, M. R. F., Robinson, P. N., Romano, C., Rose, C. M., Sainsbury, D. C. G., Schofield, L., Sutton, V. R., Tumovec, M., Van Dijck, A., Van Esch, H., Wilkie, A. O. M. & Minerva Consortium, 29 Jul 2019, In: Frontiers in Genetics. 10, 9 p., 611.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    7 Citations (Web of Science)