Institute of Human Genetics

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) (2020) Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, et al. Journal article Mycobacterial Cord Factor Reprograms the Macrophage Response to IFN-γ towards Enhanced Inflammation yet Impaired Antigen Presentation and Expression of GBP1 (2020) Huber A, Killy B, Grummel N, Bodendorfer B, Paul S, Wiesmann V, Naschberger E, et al. Journal article, Original article Macrophage migration inhibitory factor is regulated by HIF-1α and cAMP and promotes renal cyst cell proliferation in a macrophage-independent manner (2020) Safi W, Kraus A, Grampp S, Schödel J, Buchholz B Journal article Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease (2020) Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, et al. Journal article 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 Genome-wide cooperation ofEMTtranscription factorZEB1 withYAPandAP-1 in breast cancer (2020) Feldker N, Ferrazzi F, Schuhwerk H, Widholz SA, Guenther K, Frisch I, Jakob K, 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 Human sensory neurons derived from pluripotent stem cells for disease modelling and personalized medicine (2020) Lampert A, Bennett DL, McDermott LA, Neureiter A, Eberhardt E, Winner B, Zenke M Journal article CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome (2020) Börstler T, Wend H, Krumbiegel M, Kavyanifar A, Wiesmann da Silva Reis A, Lie DC, Winner B, Turan S Journal article, Original article Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration (2020) Pozner T, Regensburger M, Engelhorn T, Winkler J, Winner B Journal article, Review article