Institute of Human Genetics

Efficacy and safety of guselkumab in European patients with palmoplantar pustulosis: A multi-center, single-arm clinical trial (GAP study) (2025) Wilsmann-Theis D, Patt S, Pinter A, Gerdes S, Magnolo N, Németh R, Schmitz J, 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 Integrated multimodel analysis of intestinal inflammation exposes key molecular features of preclinical and clinical IBD (2025) Gonzalez-Acera M, Patankar J, Erkert L, Cineus R, Gamez-Belmonte R, Leupold T, Bubeck M, et al. Journal article De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal–Hreidarsson Syndrome (2025) Braun D, Gregor A, Haubitz M, Baerlocher GM, Kraus C, Rieubland C, Zweier C Journal article The Genetics of Intelligence (2025) Reis A, Spinath FM Journal article, Review article