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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
Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; ... (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet journal of rare diseases, 16(1), p. 136. BioMed Central 10.1186/s13023-021-01744-1
