Institute of Human Genetics

Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries (2026) Taxer K, Wimmer K, Wadt K, Schnaiter S, Rudnik S, Zschocke J, Vetti HH, et al. Journal article Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia (2026) Mignot C, Papathanasiou Terzi MA, Ravelli C, Bosch E, Lin X, Trauffler A, Caumes R, et al. Journal article Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (European Journal of Human Genetics, (2025), 33, 8, (989-996), 10.1038/s41431-025-01884-z) (2026) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsma EK, et al. Journal article, Erratum Prognostic value of the tumor immune microenvironment, PD-L1 and p16INK4A in penile squamous cell carcinoma (2026) Fiegl A, Angeloni M, Mink J, Pryalukhin A, Khalmurzaev O, Lohse S, Lobo J, 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