Author
University Hospital LeipzigORCID 0000-0003-2299-1311Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini…·Alexandre Reymond
The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.
Sonja Neuser, Ilona Krey, Annemarie Schwan…·Bernt Popp
The paper describes the prenatal phenotype of PNKP-related primary microcephaly and characterizes the effects of variants using RNA analysis and structural modeling.
Sonja Neuser, Barbara Brechmann, Gali Heimer…·Darius Ebrahimi‐Fakhari
The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.