SysNDD is a curated database of gene-disease associations for neurodevelopmental disorders, providing standardized evidence and annotations for 4,275 entities from 4,932 publications.

bioRxiv · Oct 1, 2026 · PreprintGenetics

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan B. Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, , Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The American Journal of Human Genetics · Apr 16, 2025Peer-reviewedGenetic & Genomic Medicine

Genome-wide Association Study identifies two novel loci for Gilles de la Tourette Syndrome

Fotis Tsetsos, Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos, Zeynep Tümer, Renata Rizzo, Andreas Hartmann, Christel Depienne, Yulia Worbe, Kirsten Müller‐Vahl, Daniëlle C. Cath, Dorret Irene Boomsma, Tomasz Wolańczyk, , Peristera Paschou

This study identifies two novel genetic loci associated with Tourette Syndrome through a genome-wide meta-analysis and integrates functional data to implicate specific genes.

medRxiv · Dec 11, 2021 · PreprintGenetic & Genomic Medicine