Institute of Human Genetics

Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals (2023) Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, et al. Journal article CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review (2023) Al-Kateb H, Au PY, Berland S, Cogne B, Demurger F, Fluss J, Isidor B, et al. Journal article VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations (2023) Baur V, Stoevesandt J, Hueber A, Hüffmeier U, Kneitz H, Morbach H, Schultz E, Goebeler M Journal article, Review article NLRP3 Inhibition Leads to Impaired Mucosal Fibroblast Function in Patients with Inflammatory Bowel Diseases (2023) Weber S, Sitte S, Vögele AL, Sologub L, Wilfer A, Rath T, Nägel A, et al. Journal article Tumor microenvironment-dependent epigenetic imprinting in the vasculature predicts colon cancer outcome (2023) Naschberger E, Fuchs M, Dickel N, Kunz M, Popp B, Anchang CG, Demmler R, et al. Journal article IL-3 receptor signalling suppresses chronic intestinal inflammation by controlling mechanobiology and tissue egress of regulatory T cells. (2023) Ullrich K, Derdau J, Baltes C, Battistella A, Rosso G, Uderhardt S, Schulze L, et al. Journal article Cardiovascular changes in the NZB/W F1 mouse model of lupus nephritis (2023) Böhme R, Daniel C, Ferrazzi F, Angeloni M, Ekici AB, Winkler T, Hilgers KF, et al. Journal article Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy (2023) Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, et al. Journal article Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine (2023) Schlosser P, Scherer N, Grundner-Culemann F, Monteiro-Martins S, Haug S, Steinbrenner I, Uluvar B, et al. Journal article Parkinson's disease or multiple system atrophy: potential separation by quantitative susceptibility mapping (2023) Marxreiter F, Lambrecht V, Mennecke A, Hanspach J, Jukic J, Regensburger M, Herrler J, et al. Journal article