Author
Ahvaz Jundishapur University of Medical SciencesORCID 0000-0002-6295-127XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
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.
J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman
The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.
Shelby E. Redfield, Pedro De‐la‐Torre, Mina Zamani…·Barbara Vona
This study identifies PKHD1L1 as a cause of autosomal recessive nonsyndromic hearing loss through exome sequencing and functional analysis in human families and animal models.
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.