Ehsan Ghayoor Karimiani

The paper identifies a homozygous splice-site variant in PALM3 and a missense variant in OTOA in a family with autosomal recessive hearing loss, supporting PALM3 as a candidate gene through functional and comparative analysis.

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

The paper identifies the roles of TRMT1 and TRMT1L in tRNA modifications, showing their impact on tRNA stability and function, and links TRMT1 variants to disease.

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

This study links proteotoxic stress from defective autophagy to epileptogenesis in Drosophila and Vici Syndrome patients, suggesting autophagy-stimulating diets as a potential treatment.

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

The paper identifies how reduced ribosome levels in neural progenitor cells contribute to neurodevelopmental disorders and shows that mTOR activation can alleviate these defects.

This study identifies biallelic PNPLA8 variants causing microcephaly by reducing basal radial glia in cerebral organoids and disrupting phospholipid metabolism.

The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.