apl. Prof. Dr. Ulrike Hüffmeier

Medizinische Fakultät

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. Journal article The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019) Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al. Journal article Mannan-induced Nos2 in macrophages enhances IL-17-driven psoriatic arthritis by innate lymphocytes (2018) Zhong J, Scholz T, Yau ACY, Guerard S, Hüffmeier U, Burkhardt H, Holmdahl R Journal article Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations (2018) Wilsmann-Theis D, Schnell LM, Ralser-Isselstein V, Bieber T, Schoen MP, Hüffmeier U, Moessner R Journal article Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes (2017) Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier U Journal article The genetic basis for most patients with pustular skin disease remains elusive (2017) Mössner R, Wilsmann-Theis D, Oji V, Gkogkolou P, Löhr S, Schulz P, Körber A, et al. Journal article Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study (2017) Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, Wade KH, et al. Journal article Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients (2017) Uebe S, Ehrlicher M, Ekici AB, Behrens F, Boehm B, Homuth G, Schurmann C, et al. Journal article Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2016) Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, et al. Journal article Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 (2016) Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C Journal article