Petra Lišková

This paper reanalyzes short-read WGS data and applies long-read WGS to improve genetic diagnosis of inherited retinal disease cases that were previously unresolved.

This study investigates the role of astrocytes in LHON pathology using iPSC-derived astrocytes, finding bioenergetic dysfunction and differences between recovery and non-recovery astrocytes.

This study combines monogenic and polygenic risk factors to predict disease progression in Fuchs endothelial corneal dystrophy, showing improved prediction when integrating both factors.

The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.

This study identifies two pathogenic mechanisms, RNA toxicity and TCF4 isoform dysregulation, in Fuchs endothelial corneal dystrophy using patient-derived corneal endothelial cells and multi-omics analyses.

The paper uses optical genome mapping to analyze tissue-specific instability of the CTG18.1 triplet repeat in FECD, finding higher instability in corneal endothelial cells than in blood leukocytes.

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.

This study identifies cis-regulatory elements and non-coding variants associated with North Carolina macular dystrophy using multi-omics and enhancer assays.

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.