Lehrstuhl für Humangenetik

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases (2022) Wopperer F, Knaup K, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, et al. Journal article Transcriptomes of MPO-Deficient Patients with Generalized Pustular Psoriasis Reveals Expansion of CD4+ Cytotoxic T Cells and an Involvement of the Complement System (2022) Haskamp S, Frey B, Becker I, Schulz-Kuhnt A, Atreya I, Berking C, Pauli D, et al. Journal article Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article Monitoring of direct oral anticoagulants plasma levels for secondary stroke prevention (2022) Siedler G, Macha K, Stoll S, Plechschmidt J, Wang R, Gerner S, Strasser E, et al. Journal article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021) Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al. Journal article BDV Syndrome: An Emerging Syndrome with Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome (2021) Bosch E, Hebebrand M, Popp B, Penger T, Behring B, Cox H, Towner S, et al. Journal article Neonatal nephron loss during active nephrogenesis results in altered expression of renal developmental genes and markers of kidney injury (2021) Raming R, Cordasic N, Kirchner P, Ekici AB, Fahlbusch F, Wölfle J, Hilgers KF, et al. Journal article Correction to: Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn’s disease (Clinical Epigenetics, (2020), 12, 1, (1), 10.1186/s13148-019-0796-9) (2021) Gombert S, Rhein M, Winterpacht A, Münster T, Hillemacher T, Leffler A, Frieling H Journal article, Erratum EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article Lymphocyte Immune Response and T Cell Differentiation in Fontan Patients with protein-losing enteropathy (2021) Moosmann J, Toka O, Lukassen S, Ekici AB, Mackensen A, Dittrich S, Völkl S Journal article