Diana Valverde

This study identifies RSG1/CPLANE2 as a causative gene for human ciliopathy and shows its role in ciliary transition zone assembly.

This study investigates the role of alms1 in zebrafish, showing its impact on immune response and brain ageing through transcriptomic analysis and CRISPR/Cas9 depletion.

This study performs a meta-analysis of genotype-phenotype associations in Alström syndrome, finding that mutations in exon 10 are linked to higher liver disease prevalence.