TY  - GEN
AU  - Martín-Sánchez, Marta
AU  - Bravo-Gil, Nereida
AU  - González-Del Pozo, María
AU  - Méndez-Vidal, Cristina
AU  - Fernández-Suárez, Elena
AU  - Rodríguez-de la Rúa, Enrique
AU  - Borrego, Salud
AU  - Antiñolo, Guillermo
PY  - 2020
DO  - 10.3390/ijms21249355
UR  - https://hdl.handle.net/20.500.12105/25274
AB  - The management of unsolved inherited retinal dystrophies (IRD) cases is challenging since no standard pipelines have been established. This study aimed to define a diagnostic algorithm useful for the diagnostic routine and to address unsolved cases....
LA  - eng
KW  - CITED1
KW  - WDFY3
KW  - Genetic diagnosis
KW  - Inherited retinal dystrophies
KW  - Next generation sequencing
KW  - Adaptor Proteins, Signal Transducing
KW  - Apoptosis Regulatory Proteins
KW  - Autophagy-Related Proteins
KW  - Genetic Testing
KW  - Humans
KW  - Mutation
KW  - Retinal Dystrophies
KW  - Trans-Activators
KW  - Exome Sequencing
KW  - Workflow
TI  - A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
TY  - research article
ER  -