Lehrstuhl für Humangenetik

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study (2022) Popp B, Ekici AB, Knaup K, Schneider K, Uebe S, Park J, Bafna V, et al. Journal article Detecting tandem repeat variants in coding regions using code-adVNTR (2022) Park J, Bakhtiari M, Popp B, Wiesener M, Bafna V Journal article The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome (2022) Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, et al. Journal article Primary cilia and SHH signaling impairments in human and mouse models of Parkinson's disease (2022) Schmidt S, Luecken MD, Truembach D, Hembach S, Niedermeier KM, Wenck N, Pfluegler K, et al. Journal article Th2 single-cell heterogeneity and clonal distribution at distant sites in helminth-infected mice (2022) Radtke D, Thuma N, Schülein C, Kirchner P, Ekici AB, Schober K, Vöhringer D Journal article Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia (2022) Winner B, Rizo Garza T, Gebhardt L, Riedlberger J, Eberhardt E, Fester L, Alansary D, et al. Other publication type Translocation of Distinct Alpha Synuclein Species from the Nucleus to Neuronal Processes during Neuronal Differentiation (2022) Pieger K, Schmitt V, Gauer C, Gießl N, Prots I, Winner B, Winkler J, et al. Journal article Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer (2022) Fasching P, Liu D, Scully S, Ingle JN, Lyra PC, Rack B, Hein A, et al. Journal article Familial acute aortic dissection associated with a novel ACTA2 germline variant (2022) Strecker T, Wiesmueller F, Rudnik-Schoeneborn S, Hoyer J, Wiesmann da Silva Reis A, Weyand M, Agaimy A Journal article The Quest for Anti-α-Synuclein Antibody Specificity—Lessons Learnt From Flow Cytometry Analysis (2022) Leupold L, Sigutova V, Gerasimova E, Regensburger M, Zundler S, Zunke F, Xiang W, et al. Journal article, Original article