Institute of Human Genetics

Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2 (2024) Pauly M, Krumbiegel M, Trumpp S, Braig S, Rupprecht T, Kraus C, Uebe S, et al. Journal article Increased PD-1 Expression on Circulating T Cells Correlates with Inferior Outcome after Autologous Stem Cell Transplantation (2024) Richter S, Böttcher M, Stoll A, Zeremski V, Völkl S, Mackensen A, Ekici AB, et al. Journal article CD200+ fibroblasts form a pro-resolving mesenchymal network in arthritis (2024) Rauber S, Mohammadian H, Schmidkonz C, Atzinger A, Soare A, Treutlein C, Kemble S, et al. Journal article De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay (2024) Ha T, Morgan A, Bartos MN, Beatty K, Cogné B, Braun D, Gerber CB, et al. Journal article Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia (2024) Krumm L, Winkler J, Winner B, Regensburger M Journal article Nanoparticles for the treatment of inflammatory conditions (2024) Janko C, Civelek M, Cicha I, Spielvogel H, Unterweger H, Alexiou C Journal article Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. (2024) Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, et al. Journal article Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. (2023) Tögel L, Schubart C, Lettmaier S, Neufert C, Hoyer J, Wolff K, Moskalev E, et al. Journal article VEXAS-Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen (2023) Baur V, Stoevesandt J, Hueber A, Hüffmeier U, Kneitz H, Morbach H, Schultz E, Goebeler M Journal article, Review article