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Arjan Bouman

 https://orcid.org/0000-0003-3531-5136

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  • Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

    Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., Kasri, N. N., Venselaar, H., Alders, M., Kerkhof, J., McConkey, H. & Kuechler, A. & 72 others, Elffers, B., van Beeck Calkoen, R., Hofman, S., Smith, A., Valenzuela, M. I., Srivastava, S., Frazier, Z., Maystadt, I., Piscopo, C., Merla, G., Balasubramanian, M., Santen, G. W. E., Metcalfe, K., Park, S. M., Pasquier, L., Banka, S., Donnai, D., Weisberg, D., Strobl-Wildemann, G., Wagemans, A., Vreeburg, M., Baralle, D., Foulds, N., Scurr, I., Brunetti-Pierri, N., van Hagen, J. M., Bijlsma, E. K., Hakonen, A. H., Courage, C., Genevieve, D., Pinson, L., Forzano, F., Deshpande, C., Kluskens, M. L., Welling, L., Plomp, A. S., Vanhoutte, E. K., Kalsner, L., Hol, J. A., Putoux, A., Lazier, J., Vasudevan, P., Ames, E., O'Shea, J., Lederer, D., Fleischer, J., O'Connor, M., Pauly, M., Vasileiou, G., Reis, A., Kiraly-Borri, C., Bouman, A., Barnett, C., Nezarati, M., Borch, L., Beunders, G., Özcan, K., Miot, S., Volker-Touw, C. M. L., van Gassen, K. L. I., Cappuccio, G., Janssens, K., Mor, N., Shomer, I., Dominissini, D., Tedder, M. L., Muir, A. M., Sadikovic, B., Brunner, H. G., Vissers, L. E. L. M., Shinkai, Y. & Kleefstra, T., 8 Aug 2024, In: American Journal of Human Genetics. 111, 8, p. 1605-1625 21 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    1 Citation (Scopus)

  • Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

    Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E. H., van Jaarsveld, R. H., Oegema, R. & van Gassen, K. L. I. & 40 others, Holwerda, S. J. B., Barakat, T. S., Bouman, A., van Slegtenhorst, M., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J.-H., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R. & Kindler, S., 6 Jun 2024, In: American Journal of Human Genetics. 111, 6, p. 1206-1221 16 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    4 Downloads (Pure)

  • Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

    Karimi, K., Mol, M. O., Haghshenas, S., Relator, R., Levy, M. A., Kerkhof, J., McConkey, H., Brooks, A., Zonneveld-Huijssoon, E., Gerkes, E. H., Tedder, M. L., Vissers, L., Salzano, E., Piccione, M., Asaftei, S. D., Carli, D., Mussa, A., Shukarova-Angelovska, E., Trajkova, S. & Brusco, A. & 4 others, Merla, G., Alders, M. M., Bouman, A. & Sadikovic, B., Mar 2024, In: Genetics in Medicine. 26, 3, 101041.

    Research output: Contribution to journal › Article › Academic › peer-review

  • GABRA1-Related Disorders: From Genetic to Functional Pathways

    Musto, E., Liao, V. W. Y., Johannesen, K. M., Fenger, C. D., Lederer, D., Kothur, K., Fisk, K., Bennetts, B., Vrielynck, P., Delaby, D., Ceulemans, B., Weckhuysen, S., Sparber, P., Bouman, A., Ardern-Holmes, S., Troedson, C., Battaglia, D. I., Goel, H., Feyma, T. & Bakhtiari, S. & 28 others, Tjoa, L., Boxill, M., Demina, N., Shchagina, O., Dadali, E., Kruer, M., Cantalupo, G., Contaldo, I., Polster, T., Isidor, B., Bova, S. M., Fazeli, W., Wouters, L., Miranda, M. J., Darra, F., Pede, E., Le Duc, D., Jamra, R. A., Küry, S., Proietti, J., McSweeney, N., Brokamp, E., Andrews, P. I., Gouray Garcia, M., Chebib, M., Møller, R. S., Ahring, P. K. & Gardella, E., Jan 2024, In: Annals of Neurology. 95, 1, p. 27-41 15 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    4 Citations (Web of Science)

  • SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

    Stefanski, A., Pérez-Palma, E., Brünger, T., Montanucci, L., Gati, C., Klöckner, C., Johannesen, K. M., Goodspeed, K., Macnee, M., Deng, A. T., Aledo-Serrano, Á., Borovikov, A., Kava, M., Bouman, A. M., Hajianpour, M. J., Pal, D. K., Engelen, M., Hagebeuk, E. E. O., Shinawi, M. & Heidlebaugh, A. R. & 26 others, Oetjens, K., Hoffman, T. L., Striano, P., Freed, A. S., Futtrup, L., Balslev, T., Abulí, A., Danvoye, L., Lederer, D., Balci, T., Nouri, M. N., Butler, E., Drewes, S., van Engelen, K., Howell, K. B., Khoury, J., May, P., Trinidad, M., Froelich, S., Lemke, J. R., Tiller, J., Freed, A. N., Kang, J. Q., Wuster, A., Møller, R. S. & Lal, D., Dec 2023, In: Brain : a journal of neurology. 146, 12, p. 5198-5208 11 p.

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    5 Citations (Scopus)
    23 Downloads (Pure)
View all 24 research outputs