Author
Instituto de Salud Carlos III
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
3 papers
Recent·Most cited
Graciela Uría-Regojo, Lidia Fernández‐Caballero, Aroa López-Alcojor…·Pablo Mínguez
This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.
Ionut-Florin Iancu, Irene Perea‐Romero, Gonzalo Núñez‐Moreno…·Pablo Mínguez
The paper builds a cohort-specific allelic frequency database to prioritize variants and genes in non-solved inherited retinal dystrophies, identifying 8 potential causative variants and 18 genes for further study.
Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly…·Carmen Ayuso
The paper analyzes RPE65 variants in 45 patients with retinal dystrophy, finding associations between variant types and age at onset.