Author
University of ZurichORCID 0000-0002-0113-783XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari…·Henry Houlden
This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour…·Konrad Platzer
This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.
Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel…·Peter Michael Krawitz
The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.