Lehrstuhl für Humangenetik

Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139) (2025) Zerad L, Didry-Barca B, Banal C, Onteniente B, Lefort N, Lepelley A, Seabra L, et al. Journal article Deciphering brain organoid heterogeneity by identifying key quality determinants (2025) Börstler T, Kachkin D, Gerasimova E, Zagha N, Furlanetto F, Nayebzade N, Zappia L, et al. Journal article Novel COL4A1 missense variant in a case of juvenile stroke (2025) Kretz A, Arbeiter M, Strobel J, Blum K, Frischholz B, Rödiger A, Hackstein H, et al. Journal article Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study (2025) Bjelica B, Wohnrade C, Osmanovic A, Schreiber-Katz O, Koerner S, Kollewe K, Haeckl S, et al. Journal article 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 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 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