Institute of Human Genetics

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney (2026) Loderbauer L, Knaup K, Reisenbüchler D, Kaiser N, Naas S, Schneider K, Wopperer FJ, et al. Journal article Genetic basis of chronic nonbacterial osteomyelitis Genetischer Hintergrund der chronischen nichtbakteriellen Osteomyelitis (2026) Hayatu MD, Hüffmeier U Journal article Further characterization of the BRSK2-associated neurodevelopmental disorder (2026) Singhal P, Hsieh TC, Ehmke N, Bacchelli E, Viggiano M, Maestrini E, Visconti P, et al. 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