Susanne Kohl

A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases

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.

A mutation-agnostic and allele-specific ASO strategy demonstrates potent functional rescue and retinal preservation in RHO-linked retinitis pigmentosa

This paper develops an allele-specific ASO strategy, SNARE, that selectively suppresses mutant RHO transcripts in RHO-linked retinitis pigmentosa, demonstrating functional rescue and retinal preservation in both in vitro and in vivo models.

Lost in communication: How Mueller glia cells fail to maintain retinal integrity in USH1C retinal organoids

This study uses retinal organoids from USH1C patients to show disrupted Muller glia signaling leads to retinal degeneration and loss of integrity.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

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

EDSpliCE, a CRISPR-Cas9 gene editing platform to rescue splicing, effectively corrects inherited retinal dystrophy-associated splicing defects

EDSpliCE corrects splicing defects in inherited retinal dystrophy using CRISPR-Cas9 with a single gRNA and exonuclease, showing effective splicing rescue in minigene assays and patient-derived fibroblasts.

Expression and subcellular localization of USH1C/harmonin in the human retina provide insights into pathomechanisms and therapy

The paper investigates harmonin expression and localization in human retinas to understand USH1C pathophysiology and potential gene therapy approaches.

Sleep and circadian phenotype in people without cone-mediated vision

This study examines circadian and sleep phenotypes in individuals with congenital achromatopsia, finding that they maintain regular rest-activity patterns despite severe light sensitivity and reduced daytime light exposure.

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

This study analyzes genetic mutations in 27 German LCA patients, identifying 93% pathogenic variants using MIP-based sequencing and highlighting the importance of genetic testing in IRD diagnosis.