Elliott H. Sherr

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

The paper identifies C12ORF57 as a key regulator of synaptic AMPA currents and excitatory neuronal homeostasis, showing its role in synaptic homeostatic downscaling and its disruption in Temtamy syndrome.

This study shows that ISRIB reduces cisplatin-induced hearing loss and hair-cell death without affecting its cytotoxicity in cancer cells.

The paper shows that noise exposure causes calcium signaling waves and unfolded protein response in cochlea, with effects dependent on noise intensity.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

The paper identifies incomplete interhemispheric fissure remodelling as a key factor in corpus callosum dysgenesis, linking genetic and cellular factors to variable phenotypes in mice and humans.

This study shows that DCC and NTN1 regulate astroglial development and interhemispheric fissure remodeling, essential for corpus callosum and hippocampal commissure formation.

This study shows ISRIB protects against noise-induced cochlear synaptopathy in male mice but not females, highlighting sex-dependent effects of UPR inhibition.

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

This study investigates speech motor control impairments in individuals with 16p11.2 deletions, finding exaggerated pitch compensation and reduced sensorimotor adaptation to auditory feedback changes.