Institute of Human Genetics

Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis (2022) Leenen E, Erger F, Altmuller J, Wenzel A, Thiele H, Harth A, Tschernoster N, et al. Journal article Recombinant pro-CTSD (cathepsin D) enhances SNCA/α-Synuclein degradation in α-Synucleinopathy models. (2022) Huarcaya AP, Drobny S, Marques ARA, Di Spiezio A, Dobert J, Balta D, Werner C, et al. Journal article, Review article Astrogenesis in the murine dentate gyrus is a life-long and dynamic process (2022) Schneider J, Weigel J, Wittmann MT, Svehla P, Ehrt S, Zheng F, Elmzzahi T, et al. Journal article Efficient and Easy Conversion of Human iPSCs into Functional Induced Microglia-like Cells (2022) Lanfer J, Winner B, Kaindl J, Krumm L, Acera MG, Neurath M, Regensburger M, Krach F Journal article, Review article Interspecies Single-Cell RNA-Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets (2022) Omata Y, Okada H, Uebe S, Izawa N, Ekici AB, Sarter-Zaiss K, Saito T, et al. Journal article Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group (2022) Bakhuizen JJ, Hanson H, Van De Tuin K, Lalloo F, Tischkowitz M, Wadt K, Doergeloh BB, et al. Conference contribution Beyond founder and truncting variants in TECPR2-associated disorder (2022) Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, et al. Conference contribution EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Conference contribution Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022) Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al. Conference contribution Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders (2022) Gumuslu E, Guemues E, Oz O, Ozkan M, Karaer K, Ekici AB, Yildiz EP, et al. Conference contribution