Institute of Human Genetics

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 Investigating PHF13 induced infertility through single cell transcriptomics and non-vertebrate model organisms (2020) Bosch E, Lukassen S, Gregor A, Ekici AB, Zweier C, Winterpacht A Conference contribution Further clinical and molecular delineation of Alazami syndrome associated with variants in LARP7 (2020) Gumuslu E, Karaer K, Gumus E, Ekici AB, Kraus C, Reis A Conference contribution Further clinical and molecular delineation of spondylocostal dysostosis type 3 (2020) Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, et al. Conference contribution Mono-allelic deleterious variants in autosomal recessive skeletal dysplasia genes are strongly associated with idiopathic short stature (2020) Thiel CT, Hauer N, Vogl C, Uebe S, Sticht H, Ekici AB, Kraus C, et al. Conference contribution Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution