Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila J Straub, EDH Konrad, J Grüner, A Toutain, LA Bok, MT Cho, ... The American Journal of Human Genetics 102 (1), 44-57, 2018 | 57 | 2018 |
Magnetic tissue engineering of the vocal fold using superparamagnetic iron oxide nanoparticles M Pöttler, A Fliedner, J Bergmann, LK Bui, M Mühlberger, C Braun, ... Tissue Engineering Part A 25 (21-22), 1470-1477, 2019 | 20 | 2019 |
Impact of superparamagnetic iron oxide nanoparticles on vocal fold fibroblasts: cell behavior and cellular iron kinetics M Pöttler, A Fliedner, E Schreiber, C Janko, RP Friedrich, C Bohr, ... Nanoscale research letters 12, 1-9, 2017 | 17 | 2017 |
Variants in SCAF4 cause a neurodevelopmental disorder and are associated with impaired mRNA processing A Fliedner, P Kirchner, A Wiesener, I van de Beek, Q Waisfisz, ... The American Journal of Human Genetics 107 (3), 544-554, 2020 | 14 | 2020 |
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster J Straub, A Gregor, T Sauerer, A Fliedner, L Distel, C Suchy, AB Ekici, ... Scientific Reports 10 (1), 1204, 2020 | 12 | 2020 |
Loss of PHF6 leads to aberrant development of human neuron-like cells A Fliedner, A Gregor, F Ferrazzi, AB Ekici, H Sticht, C Zweier Scientific reports 10 (1), 19030, 2020 | 10 | 2020 |
Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6 CB Gerber, A Fliedner, O Bartsch, S Berland, M Dewenter, M Haug, ... Clinical genetics 102 (3), 182-190, 2022 | 8 | 2022 |
Deciphering Developmental Disorders Study. Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological … J Straub, EDH Konrad, J Grüner, A Toutain, LA Bok, MT Cho, ... Am J Hum Genet 102 (01), 44-57, 2018 | 8 | 2018 |
X-chromosomale Entwicklungsstörungen im weiblichen Geschlecht A Fliedner, C Zweier Medizinische Genetik 30 (3), 334-341, 2018 | 1 | 2018 |
Rolle des Transkriptionsregulators PHF6 und des Transkriptionsterminators SCAF4 bei Entwicklungsstörungen A Fliedner Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2021 | | 2021 |
SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neuro-developmental disorders A Fliedner, P Kirchner, KE Agre, I de Graaf-van de Laar, MD Clarke, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 31-32, 2020 | | 2020 |
Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster J Straub, T Sauerer, A Fliedner, L Distel, C Suchy, AB Ekici, F Ferrazzi, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1399-1399, 2019 | | 2019 |
De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila J Straub, EDH Konrad, J Gruener, A Toutain, LA Bok, MT Cho, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 850-851, 2019 | | 2019 |
X-chromosomal neurodevelopmental disorders in females A Fliedner, C Zweier medizinische genetik 30, 334-341, 2018 | | 2018 |
Genetic Trigger for congenital mesoblastic Mephroma is discovered A Fliedner, C Zweier MEDIZINISCHE GENETIK 30 (3), 333-333, 2018 | | 2018 |
Roles of transcriptional regulator PHF6 and transcriptional terminator SCAF4 in neurodevelopmental disorders A Fliedner | | |