Institute of Human Genetics

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 R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy (2025) Batonnet-Pichon S, Delort F, Lilienbaum A, Berwanger C, Schultheis D, Schlötzer-Schrehardt U, Schmidt A, 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 High incidence of Y-chromosome mosaicism in male and female individuals with MOGHE (2025) Cecchini E, Hartlieb T, Gaballa A, Kobow K, Katoch M, Vasileiou G, Hofer W, et al. Unpublished / Preprint Checkpoint Blockade Efficacy in Uveal Melanoma Is Linked to Tumor Immunity, CD28, and CCL8 (2025) Koch E, Liguori R, Castro AA, Schliep S, Petzold A, Wessely A, Fröhlich W, et al. Journal article Establishment of an Advanced In Vitro Model for Pseudoexfoliation Syndrome and Glaucoma (2025) Pulasani SKR, Zenkel M, Lämmer R, Jünemann A, Gießl A, Korn K, Kruse F, et al. Journal article