Institute of Human Genetics

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 Meta-analyses identify DNA methylation associated with kidney function and damage (2021) Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, et al. Journal article Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus (2021) Tin A, Schlosser P, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Yu Z, 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 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