PD Dr. Georgia Vasileiou

Medizinische Fakultät Institute of Human Genetics

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia (2026) Mignot C, Papathanasiou Terzi MA, Ravelli C, Bosch E, Lin X, Trauffler A, Caumes R, et al. Journal article Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (European Journal of Human Genetics, (2025), 33, 8, (989-996), 10.1038/s41431-025-01884-z) (2026) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsma EK, et al. Journal article, Erratum Novel COL4A1 missense variant in a case of juvenile stroke (2025) Kretz A, Arbeiter M, Strobel J, Blum K, Frischholz B, Rödiger A, Hackstein H, et al. Journal article Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype (2025) Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, et al. Journal article Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder (2025) Jury J, Besnard T, Deb W, Toutain A, Gueguen P, Bruel AL, Bouman A, et al. Journal article Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (2025) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, et al. Journal article Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025) Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, et al. Journal article Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article 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 A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article