Letizia Vestito

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

This study analyzes genetic causes of syndromic and non-syndromic hearing loss in 5,488 individuals from the 100,000 Genomes Project, identifying 273 genes and a 27.5% diagnostic yield.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

The paper reduces the dimensionality of phenotypic data from 53,000 mouse models to visualize gene function diversity and highlights challenges in embedding sparse phenotypic data.

The paper identifies translational and splicing differences in dopaminoceptive neurons and highlights PGE2's role in enhancing D2 dopamine receptor function in the dorsal striatum.

This study examines the phenotypic effects of SNX14 loss-of-function mutations in mice and zebrafish, revealing species-specific consequences despite conserved biochemical roles.