Lehrstuhl für Humangenetik

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype (2025) Erdogan EN, Cheng CV, Caraffi SG, Ivanovski I, Piatelli G, Errichiello E, Papavasiliou AS, et al. Journal article Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD? (2025) Schubart C, Tögel L, Carta MG, Hetzner P, Helbig L, Zaglas C, Ziegler M, et al. Journal article 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 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 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 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