Dr. rer. nat. Steffen Uebe

Institute of Human Genetics

Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022) Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al. Conference contribution Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases (2022) Wopperer F, Knaup K, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, et al. Journal article Transcriptomes of MPO-Deficient Patients with Generalized Pustular Psoriasis Reveals Expansion of CD4+ Cytotoxic T Cells and an Involvement of the Complement System (2022) Haskamp S, Frey B, Becker I, Schulz-Kuhnt A, Atreya I, Berking C, Pauli D, et al. Journal article BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021) Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article Genetic diagnostic yield in a large cohort of patients with developmental and epileptic encephalopathy from Latin America: a preliminary report (2021) De Moraes HT, Urquia-Osorio H, Cavalcante CM, Guerreiro MM, Montenegro MA, Coan AC, Medina MT, et al. Conference contribution Experimental epileptogenesis in a cell culture model of primary neurons from rat brain: A temporal multi‐scale study (2021) Jablonski J, Hoffmann L, Blümcke I, Fejtová A, Uebe S, Ekici AB, Gnatkovsky V, Kobow K Journal article, Original article Transcriptomes of MPO-deficient patients with generalized pustular psoriasis reveals expansion of CD4+cytotoxic T cells and an involvement of complement system and interferon pathways (2021) Hüffmeier U, Frey B, Becker I, Atreya I, Berking C, Moessner R, Wilsmann-Theis D, et al. Conference contribution Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al. Journal article Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany (2021) Haskamp S, Horowitz J, Oji V, Philipp S, Sticherling M, Schäkel K, Schuhmann S, et al. Journal article