Lehrstuhl für Humangenetik

Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency (2025) Gregor A, Distel L, Ekici AB, Kirchner P, Uebe S, Krumbiegel M, Turan S, et al. Journal article Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy. (2025) Langhammer F, Gregor A, Ntamati NR, Ekici AB, Winner B, Nevian T, Zweier C Journal article GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets (2025) Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, et al. Journal article Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025) Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al. Journal article Exploring Differentially Expressed Genes and Understanding the Underlying Mechanisms in Glioblastoma (2025) Seven D, Ekici AB, Uebe S, Bilgiç B, Sencer A, Aydoseli A, Reis A, Buyru N Journal article Young woman with multiple bilateral ovarian masses Junge Frau mit multiplen Raumforderungen beider Ovarien (2025) Hosten AK, Homeister S, Strauß HG, Fathke C, Reis A, Wallwiener M Journal article Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease (2025) Fassad MR, Valenzuela S, Oláhová M, Collier JJ, Knowles CV, Mavraki E, Elbracht M, 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 The Genetics of Intelligence (2025) Reis A, Spinath FM Journal article, Review article