Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., Marcelis, C., Baysal, Ö., Hartwich, D., Holthöfer, L., Isidor, B., Cogne, B., Wieczorek, D., Capra, V., Scala, M., de Marco, P., & 52 othersOgnibene, M., Jamra, R. A., Platzer, K., Carter, L. B., Kuismin, O., van Haeringen, A., Maroofian, R., Valenzuela, I., Cuscó, I., Martinez-Agosto, J. A., Rabani, A. M., Mefford, H. C., Pereira, E. M., Close, C., Anyane-Yeboa, K., Wagner, M., Hannibal, M. C., Zacher, P., Thiffault, I., Beunders, G., Umair, M., Bhola, P. T., McGinnis, E., Millichap, J., van de Kamp, J. M., Prijoles, E. J., Dobson, A., Shillington, A., Graham, B. H., Garcia, E-J., Galindo, M. K., Ropers, F. G., Nibbeling, E. A. R., Hubbard, G., Karimov, C., Goj, G., Bend, R., Rath, J., Morrow, M. M., Millan, F., Salpietro, V., Torella, A., Nigro, V., Kurki, M., Stevenson, R. E., Santen, G. W. E., Zweier, M., Campeau, P. M., Severino, M., Reis, A., Accogli, A. & Vasileiou, G., 1 Nov 2023, In: Genetics in medicine. 25, 11, 100950.

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

DLG4-related synaptopathy: a new rare brain disorder

Rodríguez-Palmero, A., Boerrigter, M. M., Gómez-Andrés, D., Aldinger, K. A., Marcos-Alcalde, Í., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A. M., Bjerregaard, V. A., Bruel, A. L., Challman, T. D., Cogné, B., Coubes, C., de Man, S. A., Denommé-Pichon, A. S., Dye, T. J., & 66 othersElmslie, F., Feuk, L., García-Miñaúr, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., MacKenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Müller, A. J., O’Leary, M., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schlüter, A., Schönewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmüller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gómez-Puertas, P., Pujol, A. & Tümer, Z., May 2021, In: Genetics in medicine. 23, 5, p. 888-899 12 p.

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