Institute of Human Genetics

Genetic basis of chronic nonbacterial osteomyelitis Genetischer Hintergrund der chronischen nichtbakteriellen Osteomyelitis (2026) Hayatu MD, Hüffmeier U Journal article S1 Guideline: Therapy of generalized pustular psoriasis (2026) Mößner R, Cramer N, Gerdes S, Hüffmeier U, Körber A, Krause K, Kromer C, et al. Journal article Reply to: “Mathematical Comments on Linking Neurofilament Light Chain Levels to Disease Severity in HSP Subtypes SPG11 and SPG15” (2026) Regensburger M, Winner B, Winkler J Journal article Patch-Level Brain Tumor Sub-region Classification Using Foundation Models Under Long-Tailed Data Distributions (2026) Rivera Monroy LC, Mayr M, Mill L, Köstler H, Maier A Conference contribution 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 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 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