Lehrstuhl für Humangenetik

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 MYH9 Variant p.(Arg424Gly) Alters Nonmuscle Myosin IIA Contraction, Causing Atypical MYH9-related Disease (2026) Pollinger L, Greve JN, Grosch M, Kaliman S, Abuhattum S, Kräter M, Brauer I, et al. Journal article TNF alpha unmasks enteric malate aspartate shuttle dysfunction bridging Parkinson disease and intestinal inflammation (2026) Ghirotto B, Gonçalves LE, Ruder V, James C, Gerasimova E, Rizo T, Wend H, et al. Journal article 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 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 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