Personal profile
Research interests
clinical genetics
genetics of neurodevelopemental problems
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Dive into the research topics where Gea Beunders is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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AUTS2-related syndrome: Insights from a large European cohort
Loberti, L., Adamo, L., Antolini, E., Casamassima, G., Destrèe, A., Brunetti-Pierri, N., Genevieve, D., Christophe, P., Coubes, C., van Esch, H., Herget, T., Kortüm, F., Lisfeld, J., Möllring, A. C., Zenker, M., Levy, J., Perrin, L., Tabet, A.-C., Maruani, A. & Sorlin, A. & 55 others, , 1 Jun 2025, In: Genetics in medicine. 27, 6, 101375.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile33 Downloads (Pure) -
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, , 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
Open AccessFile42 Downloads (Pure) -
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 others, , 1 Nov 2023, In: Genetics in medicine. 25, 11, 100950.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile26 Downloads (Pure) -
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
Rossi, A., Blok, L. S., Neuser, S., Klöckner, C., Platzer, K., Faivre, L. O., Weigand, H., Dentici, M. L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, L., Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M. & Lauridsen, M. F. & 23 others, , 1 Aug 2023, In: Clinical genetics. 104, 2, p. 186-197 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile16 Downloads (Pure) -
DLG4-related synaptopathy: a new rare brain disorder: 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 others, , May 2021, In: Genetics in medicine. 23, 5, p. 888-899 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access