Valentina Cipriani

The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort

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.

Distinctive cross-ancestry genetic architecture for age-related macular degeneration

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

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.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

The paper identifies two duplications at the MCDR3 locus associated with North Carolina macular dystrophy, refining the disease-causing region and showing expression of IRX1 and ADAMTS16 in fetal retina.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Phenopolis provides an open platform for integrating and analyzing sequencing and phenotype data to aid in clinical diagnosis and gene discovery.