Author
National Institutes of HealthORCID 0000-0003-1697-6959Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
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.
Sandy Mattijssen, Kyra Kerkhofs, Joshi Stephen…·Richard J Maraia
The paper identifies a POLR3B variant causing mis-splicing and altered Pol III transcriptome, revealing La protein's role in reshaping small ncRNA profiles and identifying tRF-1/tRF-3 as biomarkers for POLR3 deficiency.
Jonathan C. Andrews, Jung-Wan Mok, Oguz Kanca…·Michael F. Wangler
The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.
Harikiran Nistala, John Dronzek, Claudia G. Gonzaga-Jauregui…·Aris N. Economides
The paper investigates PRUNE1 variants causing NMIHBA, showing they disrupt exopolyphosphatase activity and lead to neurodevelopmental defects in mice.
Kristin M. Ates, Tong Wang, Trevor Moreland…·Y. Albert Pan
This study investigates the role of PHETA1/2 in zebrafish, showing that their deficiency causes renal and craniofacial defects, and links a patient variant to disease pathogenesis.