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 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 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 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 Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability. (2025) De Hayr L, Blok LE, Dias KR, Long J, Begemann A, Moir RD, Willis IM, et al. Journal article NPT100-18A rescues mitochondrial oxidative stress and neuronal degeneration in human iPSC-based Parkinson's model. (2025) Alecu J, Sigutova V, Brazdis RM, Lörentz S, Marios-Evangelos B, Nursaitova A, Regensburger M, et al. Journal article, Original article Novel co-culture model of T cells and midbrain organoids for investigating neurodegeneration in Parkinson’s disease (2025) Gerasimova E, Beenen A, Kachkin D, Regensburger M, Zundler S, Blumenthal DB, Lutzny-Geier G, et al. Journal article, Original article The Genetics of Intelligence (2025) Reis A, Spinath FM Journal article, Review 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 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