Dr. rer. nat. Anne Gregor

Institute of Human Genetics Lehrstuhl für Humangenetik

De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022) Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al. Journal article, Original article Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance (2021) Rapaport F, Boisson B, Gregor A, Béziat V, Boisson-Dupuis S, Bustamante J, Jouanguy E, et al. Journal article 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 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 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 Loss of PHF6 leads to aberrant development of human neuron-like cells (2020) Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C Journal article Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2020) Straub J, Gregor A, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, et al. Journal article Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases (2020) Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, et al. Journal article De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females (2020) Polla DL, Bhoj EJ, Verheij JB, Wassink-Ruiter JS, Reis A, Deshpande C, Gregor A, et al. Journal article Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing (2020) Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, et al. Journal article