Institute of Human Genetics

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021) Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, 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 Oral Anticoagulants in the Oldest Old with Recent Stroke and Atrial Fibrillation (2021) Polymeris AA, Macha K, Paciaroni M, Wilson D, Koga M, Cappellari M, Schaedelin S, et al. Journal article IL-33-induced metabolic reprogramming controls the differentiation of alternatively activated macrophages and the resolution of inflammation (2021) Faas M, Ipseiz N, Ackermann J, Culemann S, Grüneboom A, Schröder F, Rothe T, et al. Journal article Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation (2021) Schwarz H, Popp B, Airik R, Torabi Sarijalo N, Knaup K, Stoeckert J, Wiech T, et al. Journal article, Original article Perifoveal cone- And rod-mediated temporal contrast sensitivities in stargardt disease/fundus flavimaculatus (2021) Fars J, Pasutto F, Kremers J, Huchzermeyer C Journal article Genetic diagnostic yield in a large cohort of patients with developmental and epileptic encephalopathy from Latin America: a preliminary report (2021) De Moraes HT, Urquia-Osorio H, Cavalcante CM, Guerreiro MM, Montenegro MA, Coan AC, Medina MT, et al. Conference contribution Experimental epileptogenesis in a cell culture model of primary neurons from rat brain: A temporal multi‐scale study (2021) Jablonski J, Hoffmann L, Blümcke I, Fejtová A, Uebe S, Ekici AB, Gnatkovsky V, Kobow K Journal article, Original article