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Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Oates, Stephanie; Absoud, Michael; Goyal, Sushma; Bayley, Sophie; Baulcomb, Jennifer; Sims, Annemarie; Riddett, Amy; Allis, Katrina; Brasch-Andersen, Charlotte; Balasubramanian, Meena; Bai, Renkui; Callewaert, Bert; Hüffmeier, Ulrike; Le Duc, Diana; Radtke, Maximilian; Korff, Christian; Kennedy, Joanna; Low, Karen; Møller, Rikke S; Nielsen, Jens Erik Klint; ... (2021). ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical genetics, 100(4), pp. 412-429. Wiley-Blackwell 10.1111/cge.14023
Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; ... (2017). Phenotypes and genotypes in individuals with SMC1A variants. American journal of medical genetics. Part A, 173(8), pp. 2108-2125. Wiley-Liss 10.1002/ajmg.a.38279
