Author
Friedrich-Alexander-Universität Erlangen-NürnbergORCID 0000-0002-1993-1134Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson…·Guang Yang
The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.
Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes…·Rajesh V. Thakker
The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.
Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou
The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.
Georgia Vasileiou, Juliane Hoyer, Christian Thomas Thiel…·Bernt Popp
The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.