Institute of Human Genetics

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 Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice (2025) Zachariae S, Quante AS, Kiechle M, Rhiem K, Fehm TN, Schröder JG, Horvath J, et al. Journal article 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 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 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