Christiane Zweier

Medizinische Fakultät

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature (2024) Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, et al. Journal article Further delineation of the SCAF4-associated neurodevelopmental disorder (2024) Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al. Journal article BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A (2024) Mammadova D, Kraus C, Leis T, Popp B, Zweier C, Reis A, Trollmann R Journal article Clonal hematopoiesis of indeterminate potential is rare in pediatric patients undergoing autologous stem cell transplantation (2024) Kartal-Kaess M, Karow A, Bacher U, Pabst T, Joncourt R, Zweier C, Kuehni CE, et al. Journal article Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article