Elise Héon

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.

The paper uses long-read sequencing to detect transgene concatenation and off-target integration in a mouse model, revealing hidden genomic complexity and phenotypic disruption.

This study shows RPGR variants impair motile cilia in airway multiciliated cells by causing apical F-actin accumulation, leading to reduced ciliation, shorter cilia, and impaired cilia beat.

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 epigenomic anomalies in iPSCs derived from Alzheimer's disease patients that affect neural differentiation and amyloid/Tau pathology.