Institute of Human Genetics

RNA splicing modulator for Huntington's disease treatment induces peripheral neuropathy (2025) Krach F, Börstler T, Neubert S, Krumm L, Regensburger M, Winkler J, Winner B Journal article 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 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 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