Institute of Human Genetics

Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder (2021) Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel C, Winterholler M, Reis A, Zweier C Journal article Network- and systems-based re-engineering of dendritic cells with non-coding RNAs for cancer immunotherapy (2021) Lai X, Dreyer F, Cantone M, Eberhardt M, Gerer KF, Jaitly T, Uebe S, et al. Journal article Updated insight into the mutational and phenotypic spectrum of MED13L-related intellectual disability (2020) Asadollahi R, Boonsawat P, Popp B, Torti E, Bader I, Vitobello A, Moutton S, et al. Conference contribution Expanding the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and functional proof of aberrant WRC-mediated actin dynamics (2020) Begemann A, Sticht H, Mcwalter K, Vitobello A, Faivre L, Alhaddad B, Banka S, et al. Conference contribution Expanding the spectrum of WDR62 mutations : description of new cases (2020) Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al. Conference contribution SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neuro-developmental disorders (2020) Fliedner A, Kirchner P, Agre KE, De Graaf-Van De Laar I, Clarke MD, Davis-Keppen L, Ekici AB, et al. Conference contribution Common RUNX3 missense variant contributes to psoriatic arthritis by affecting splicing and modifying signaling, activation and differentiation of T-cells (2020) Hüffmeier U, Löhr S, Uebe S, Popp B, Bowes J, Kirchner P, Giardina E, et al. Conference contribution Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster (2020) Gregor A, Meerbrei T, Distel L, Gerstner T, Gupta A, Toutain A, Lynch SA, et al. Conference contribution Exome Pool-Seq Reloaded (2020) Popp B, Vasileiou G, Zweier M, Ekici AB, Moortgat S, Lederer D, Maystadt I, et al. Conference contribution Identification and characterization of a GLMN splice site variant in a three-generation-family with glomuvenous malformations (2020) Skowronek D, Hebebrand M, Erber R, Agaimy A, Zweier C, Felbor U, Rath M Conference contribution