Lehrstuhl für Humangenetik

Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis (2020) Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, et al. Journal article Modeling Cell-Cell Interactions in Parkinson's Disease Using Human Stem Cell-Based Models. (2019) Rizo Garza T, Simmnacher K, Lanfer J, Rizo T, Kaindl J, Winner B Journal article Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn's disease (2019) Gombert S, Rhein M, Winterpacht A, Münster T, Hillemacher T, Leffler A, Frieling H Journal article CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article In Vivo Protein Complementation Demonstrates Presynaptic α-Synuclein Oligomerization and Age-Dependent Accumulation of 8–16-mer Oligomer Species (2019) Kiechle M, von Einem B, Höfs L, Voehringer P, Grozdanov V, Markx D, Parlato R, et al. Journal article β1 and β3 subunits amplify mechanosensitivity of the cardiac voltage-gated sodium channel Nav1.5 (2019) Maroni M, Körner J, Schüttler J, Winner B, Lampert A, Eberhardt E Journal article Skeletal abnormalities are common features in Ayme-Gripp syndrome (2019) Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, et al. Journal article Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019) Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al. Journal article MOLECULAR DIAGNOSIS OF KIDNEY TRANSPLANT FAILURE BY THE URINE (2019) Knaup K, Wiesener A, Buettner-Herold M, Dieterle A, Morath C, Vondran FWR, Wald A, et al. Conference contribution Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019) Zweier M, Begemann A, Mcwalter K, Cho MT, Abela L, Banka S, Behring B, et al. Conference contribution