Barbara Vona

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

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 surveys genetics professionals on their use of functional evidence in variant classification for hearing and vision loss, highlighting challenges in data quality, accessibility, and integration into clinical practice.

The paper identifies FRMPD4 as a causal gene for X-linked non-syndromic hearing loss through genetic analysis and cross-species functional studies.

This study identifies XPOT deficiency as a human disorder causing immune defects, hearing loss, and developmental issues through impaired tRNA nuclear export.

The paper describes a protocol for an in vitro minigene splice assay using the pET01 vector to study aberrant splicing when patient samples or accessible tissues are unavailable.

The paper shows that combinatorial Maf transcription factors establish subtype-specific synaptic properties in spiral ganglion neurons.

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

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.

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 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.

This paper identifies biallelic TANGO1 mutations causing a novel syndromal collagenopathy in humans, leading to multiple systemic abnormalities.

This study shows that radixin is essential for cochlear amplification by modulating stereocilia function and sound-evoked electrical potentials in guinea pigs.