Institute of Human Genetics

Adgrg6/Gpr126 is required for compact wall integrity and establishing trabecular identity during cardiac trabeculation (2026) Srivastava S, Gunawan F, Vergarajauregui S, Gentile A, Angeloni M, Petersen SC, Günther S, et al. Journal article Genetic liability to psoriasis predicts severe disease outcomes (2026) Saklatvala JR, Lessard S, Teder-Laving M, Thomas LF, Ramessur R, Zierer J, Åsvold BO, et al. Journal article 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 Genetic basis of chronic nonbacterial osteomyelitis Genetischer Hintergrund der chronischen nichtbakteriellen Osteomyelitis (2026) Hayatu MD, Hüffmeier U 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