Lehrstuhl für Humangenetik

P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO). (2024) Charras A, Hofmann SR, Cox A, Schulze F, Russ S, Northey S, Liu X, et al. Journal article 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 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 The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, 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