Institute of Human Genetics

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction (2019) Tiosano D, Baris HN, Chen A, Hitzert MM, Schüler M, Gulluni F, Wiesener A, et al. Journal article Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma (2019) Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, et al. Journal article TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma (2019) Hellwig M, Lauffer MC, Bockmayr M, Spohn M, Merk DJ, Harrison L, Ahlfeld J, et al. Journal article Genome-wide association study of germline variants and breast cancer-specific mortality (2019) Escala-Garcia M, Guo Q, Doerk T, Canisius S, Keeman R, Dennis J, Beesley J, et al. Journal article INHIBITION OF ARGINASE-1 EXPRESSION BY THE TRANSCRIPTION FACTOR FRA-1 IN MACROPHAGES EXACERBATES RHEUMATOID ARTHRITIS INFLAMMATION (2019) Hannemann N, Cao S, Schnelzer A, Jordan J, Eberhardt M, Schleicher U, Uebe S, et al. Conference contribution Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammation (2019) Zundler S, Becker E, Spocinska M, Slawik M, Parga-Vidal L, Stark R, Wiendl M, 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 Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus (2019) Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandino G, Lawrenson K, Hazelett DJ, Najafabadi HS, et al. Journal article Tyrosinase is a novel endogenous inhibitor of lymphangiogenesis (2019) Clahsen T, Büttner C, Regenfuss B, Gabriel T, Bock F, Reis A, Cursiefen C Conference contribution Disease Modeling of Neuropsychiatric Brain Disorders Using Human Stem Cell-Based Neural Models (2019) Kaindl J, Winner B Book chapter / Article in edited volumes