Institute of Human Genetics

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins (2025) Skowronek D, Pilz RA, Saenko VV, Mellinger L, Singer D, Ribback S, Weise A, et al. Journal article A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes (2025) Schweiger M, Reis A, Gümüslü E, Krebsova A, Raab A, Lang C, Horn D, et al. Journal article Acid sphingomyelinase activity suggests a new antipsychotic pharmaco-treatment strategy for schizophrenia (2025) Chestnykh D, Mühle C, Schumacher F, Kalinichenko L, Löber S, Gmeiner P, Alzheimer C, et al. Journal article A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation (2025) Furlanetto F, Flegel N, Kremp M, Spear C, Fröb F, Alfonsetti M, Bohl B, et al. Journal article 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