Author
Ahvaz Jundishapur University of Medical SciencesORCID 0009-0006-1495-2389Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Sandra v. Hardenberg, Indra Niehaus, Anna Wiemers…·Bernd Auber
This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.
Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu
This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.
Barbara Vona, Neda Mazaheri, Sheng‐Jia Lin…·Hamid Galehdari
This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.