Imma Hernán

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

ERK signalling: a master regulator of cell behaviour, life and fate

High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

De novo germline mutation in the serine–threonine kinase STK11/LKB1 gene associated with Peutz–Jeghers syndrome