Dr. rer. nat. Steffen Uebe

Institute of Human Genetics

Common RUNX3 missense variant contributes to psoriatic arthritis by affecting splicing and modifying signaling, activation and differentiation of T-cells (2020) Hüffmeier U, Löhr S, Uebe S, Popp B, Bowes J, Kirchner P, Giardina E, et al. Conference contribution Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Conference contribution Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020) Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al. Conference contribution Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases (2020) Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, et al. Journal article A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2 (2020) Hetzelt K, Kraus C, Kusnik S, Thiel C, Uebe S, Ekici AB, Trollmann R, et al. Journal article 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 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 The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome (2019) Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, et al. Journal article Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability (2019) Popp B, Agaimy A, Kraus C, Knaup K, Ekici AB, Uebe S, Reis A, et al. Journal article Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants (2019) Löhr S, Ekici AB, Uebe S, Büttner C, Köhm M, Behrens F, Böhm B, et al. Journal article