Institute of Human Genetics

Pathogenic PHIP Variants are Variably Associated With CAKUT (2024) de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, et al. Journal article Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article 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 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