Institute of Human Genetics

ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes (2026) Grosch M, Haak J, Kolb C, Plogmann I, Guaragna MS, Wiesener A, Pasutto F, et al. Journal article 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 Functionally deficient UBOX5 variants and primary angle-closure glaucoma (2025) Li Z, Chng WL, Liu Z, Do T, Nakano M, Chen LJ, Loo Y, et al. Journal article Closing the gap in the clinical adoption of computational pathology: a standardized, open-source framework to integrate deep-learning models into the laboratory information system (2025) Angeloni M, Rizzi D, Schön S, Caputo A, Merolla F, Hartmann A, Ferrazzi F, Fraggetta F Journal article IgA displays site- and subclass-specific glycoform differences despite equal glycoenzyme expression (2025) Falck D, Sokolova M, Koeleman CA, Irumva V, Kirchner P, Schulz S, Schmidt K, et al. Journal article Dynamic changes of extracellular vesicles during zebrafish organogenesis (2025) Mulzer LM, Felger T, Muñoz LE, Engl G, Reutter HM, Schiffer M, Jahromi LP, 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 Biphasic inflammation control by fibroblasts enables spinal cord regeneration in zebrafish (2025) John N, Fleming T, Kolb J, Lyraki O, Vásquez Sepúlveda SI, Parmar A, Kim K, et al. Journal article