TY  - JOUR
AU  - Martin-Sanchez, Marta
AU  - Bravo-Gil, Nereida
AU  - Gonzalez-Del-Pozo, Maria
AU  - Mendez-Vidal, Cristina
AU  - Fernandez-Suarez, Elena
AU  - Rodriguez-de-la-Rua, Enrique
AU  - Borrego, Salud
AU  - Antiñolo, Guillermo
PY  - 2020
DO  - 10.3390/ijms21249355
UR  - http://hdl.handle.net/10668/16770
T2  - International journal of molecular sciences
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  - en
PB  - MDPI AG
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
VL  - 21
ER  -