Gemma Marfany

The paper uses scRNA-seq to study NR2E3 mutations in mouse retinas, identifying hybrid photoreceptors and their role in disease.

This study investigates retinal structure and function in SCA3 patients and transgenic mice, finding correlations between retinal changes and disease severity.

This paper generates two Nr2e3 mouse models using CRISPR-Cas9-D10A nickase to study retinal dystrophies, identifying a new short isoform and phenotypes resembling human RP and ESCS.