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Anna Fliedner
Anna Fliedner
University Hospital Erlangen
Verified email at uk-erlangen.de
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Cited by
Year
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
572018
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
202019
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
172017
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
142020
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
122020
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
102020
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
82022
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
82018
X-chromosomale Entwicklungsstörungen im weiblichen Geschlecht
A Fliedner, C Zweier
Medizinische Genetik 30 (3), 334-341, 2018
12018
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
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